Publications

Publications published since 2005 from OUS - Department of Medical Genetics

1264 publications found (only first 1000 shown)

Publications 2019

  1. Akkouh IA, Skrede S, Holmgren A, Ersland KM, Hansson L, Bahrami S, Andreassen OA, Steen VM, Djurovic S, Hughes T (2019)
    Exploring lithium's transcriptional mechanisms of action in bipolar disorder: a multi-step study
    Neuropsychopharmacology (in press)
    DOI 10.1038/s41386-019-0556-8, PubMed 31652432
  2. Alnæs D, Kaufmann T, van der Meer D, Córdova-Palomera A, Rokicki J, Moberget T, Bettella F, Agartz I, Barch DM, Bertolino A, Brandt CL, Cervenka S, Djurovic S, Doan NT, Eisenacher S, Fatouros-Bergman H, Flyckt L, Di Giorgio A, Haatveit B, Jönsson EG, Kirsch P, Lund MJ, Meyer-Lindenberg A, Pergola G, Schwarz E et al. (2019)
    Brain Heterogeneity in Schizophrenia and Its Association With Polygenic Risk
    JAMA Psychiatry, 76 (7), 739-748
    DOI 10.1001/jamapsychiatry.2019.0257, PubMed 30969333
  3. Aslaksen S, Methlie P, Vigeland MD, Jøssang DE, Wolff AB, Sheng Y, Oftedal BE, Skinningsrud B, Undlien DE, Selmer KK, Husebye ES, Bratland E (2019)
    Coexistence of Congenital Adrenal Hyperplasia and Autoimmune Addison's Disease
    Front Endocrinol (Lausanne), 10, 648
    DOI 10.3389/fendo.2019.00648, PubMed 31611844
  4. Bizuayehu TT, Mommens M, Sundaram AYM, Dhanasiri AKS, Babiak I (2019)
    Postovulatory maternal transcriptome in Atlantic salmon and its relation to developmental potential of embryos
    BMC Genomics, 20 (1), 315
    DOI 10.1186/s12864-019-5667-4, PubMed 31014241
  5. Bjune K, Wierød L, Naderi S (2019)
    Inhibitors of AKT kinase increase LDL receptor mRNA expression by two different mechanisms
    PLoS One, 14 (6), e0218537
    DOI 10.1371/journal.pone.0218537, PubMed 31216345
  6. Bogsrud MP, Græsdal A, Johansen D, Langslet G, Hovland A, Arnesen KE, Mundal LJ, Retterstøl K, Wium C, Holven KB (2019)
    LDL-cholesterol goal achievement, cardiovascular disease, and attributed risk of Lp(a) in a large cohort of predominantly genetically verified familial hypercholesterolemia
    J Clin Lipidol, 13 (2), 279-286
    DOI 10.1016/j.jacl.2019.01.010, PubMed 30910667
  7. Bownass L, Abbs S, Armstrong R, Baujat G, Behzadi G, Berentsen RD, Burren C, Calder A, Cormier-Daire V, Newbury-Ecob R, Foulds N, Juliusson PB, Kant SG, Lefroy H, Mehta SG, Merckoll E, Michot C, Monsell F, Offiah AC, Richards A, Rosendahl K, Rustad CF, Shears D, Tveten K, Wellesley D et al. (2019)
    PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases
    Am J Med Genet A, 179 (9), 1884-1894
    DOI 10.1002/ajmg.a.61282, PubMed 31313512
  8. Bratlie S, Halvorsen K, Myskja BK, Mellegård H, Bjorvatn C, Frost P, Heiene G, Hofmann B, Holst-Jensen A, Holst-Larsen T, Malnes RS, Paus B, Sandvig B, Sjøli SI, Skarstein B, Thorseth MB, Vagstad N, Våge DI, Borge OJ (2019)
    A novel governance framework for GMO: A tiered, more flexible regulation for GMOs would help to stimulate innovation and public debate
    EMBO Rep, 20 (5)
    DOI 10.15252/embr.201947812, PubMed 31015362
  9. Bråten LCH, Rolfsen MP, Espeland A, Wigemyr M, Aßmus J, Froholdt A, Haugen AJ, Marchand GH, Kristoffersen PM, Lutro O, Randen S, Wilhelmsen M, Winsvold BS, Kadar TI, Holmgard TE, Vigeland MD, Vetti N, Nygaard ØP, Lie BA, Hellum C, Anke A, Grotle M, Schistad EI, Skouen JS, Grøvle L et al. (2019)
    Efficacy of antibiotic treatment in patients with chronic low back pain and Modic changes (the AIM study): double blind, randomised, placebo controlled, multicentre trial
    BMJ, 367, l5654
    DOI 10.1136/bmj.l5654, PubMed 31619437
  10. Böker T, Vanem TT, Pripp AH, Rand-Hendriksen S, Paus B, Smith HJ, Lundby R (2019)
    Dural ectasia in Marfan syndrome and other hereditary connective tissue disorders: a 10-year follow-up study
    Spine J, 19 (8), 1412-1421
    DOI 10.1016/j.spinee.2019.04.010, PubMed 30998996
  11. Cernilogar FM, Hasenöder S, Wang Z, Scheibner K, Burtscher I, Sterr M, Smialowski P, Groh S, Evenroed IM, Gilfillan GD, Lickert H, Schotta G (2019)
    Pre-marked chromatin and transcription factor co-binding shape the pioneering activity of Foxa2
    Nucleic Acids Res, 47 (17), 9069-9086
    DOI 10.1093/nar/gkz627, PubMed 31350899
  12. Choquet M, Smolina I, Dhanasiri AKS, Blanco-Bercial L, Kopp M, Jueterbock A, Sundaram AYM, Hoarau G (2019)
    Towards population genomics in non-model species with large genomes: a case study of the marine zooplankton Calanus finmarchicus
    R Soc Open Sci, 6 (2), 180608
    DOI 10.1098/rsos.180608, PubMed 30891252
  13. Creese B, Vassos E, Bergh S, Athanasiu L, Johar I, Rongve A, Medbøen IT, Vasconcelos Da Silva M, Aakhus E, Andersen F, Bettella F, Braekhus A, Djurovic S, Paroni G, Proitsi P, Saltvedt I, Seripa D, Stordal E, Fladby T, Aarsland D, Andreassen OA, Ballard C, Selbaek G, AddNeuroMed consortium and the Alzheimer’s Disease Neuroimaging Initiative (2019)
    Examining the association between genetic liability for schizophrenia and psychotic symptoms in Alzheimer's disease
    Transl Psychiatry, 9 (1), 273
    DOI 10.1038/s41398-019-0592-5, PubMed 31641104
  14. Crosbie EJ, Ryan NAJ, Arends MJ, Bosse T, Burn J, Cornes JM, Crawford R, Eccles D, Frayling IM, Ghaem-Maghami S, Hampel H, Kauff ND, Kitchener HC, Kitson SJ, Manchanda R, McMahon RFT, Monahan KJ, Menon U, Møller P, Möslein G, Rosenthal A, Sasieni P, Seif MW, Singh N, Skarrott P et al. (2019)
    The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome
    Genet Med, 21 (10), 2390-2400
    DOI 10.1038/s41436-019-0489-y, PubMed 30918358
  15. Davies G, Lam M, Harris SE, Trampush JW, Luciano M, Hill WD, Hagenaars SP, Ritchie SJ, Marioni RE, Fawns-Ritchie C, Liewald DCM, Okely JA, Ahola-Olli AV, Barnes CLK, Bertram L, Bis JC, Burdick KE, Christoforou A, DeRosse P, Djurovic S, Espeseth T, Giakoumaki S, Giddaluru S, Gustavson DE, Hayward C et al. (2019)
    Author Correction: Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function
    Nat Commun, 10 (1), 2068
    DOI 10.1038/s41467-019-10160-w, PubMed 31043617
  16. Dominguez-Valentin M, Sampson JR, Seppälä TT, Ten Broeke SW, Plazzer JP, Nakken S, Engel C, Aretz S, Jenkins MA, Sunde L, Bernstein I, Capella G, Balaguer F, Thomas H, Evans DG, Burn J, Greenblatt M, Hovig E, de Vos Tot Nederveen Cappel WH, Sijmons RH, Bertario L, Tibiletti MG, Cavestro GM, Lindblom A, Della Valle A et al. (2019)
    Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
    Genet Med (in press)
    DOI 10.1038/s41436-019-0596-9, PubMed 31337882
  17. Drange OK, Smeland OB, Shadrin AA, Finseth PI, Witoelar A, Frei O, Psychiatric Genomics Consortium Bipolar Disorder Working Group, Wang Y, Hassani S, Djurovic S, Dale AM, Andreassen OA (2019)
    Genetic Overlap Between Alzheimer's Disease and Bipolar Disorder Implicates the MARK2 and VAC14 Genes
    Front Neurosci, 13, 220
    DOI 10.3389/fnins.2019.00220, PubMed 30930738
  18. Dyment DA, Terhal PA, Rustad CF, Tveten K, Griffith C, Jayakar P, Shinawi M, Ellingwood S, Smith R, van Gassen K, McWalter K, Innes AM, Lines MA (2019)
    De novo substitutions of TRPM3 cause intellectual disability and epilepsy
    Eur J Hum Genet, 27 (10), 1611-1618
    DOI 10.1038/s41431-019-0462-x, PubMed 31278393
  19. Ellervik C, Roselli C, Christophersen IE, Alonso A, Pietzner M, Sitlani CM, Trompet S, Arking DE, Geelhoed B, Guo X, Kleber ME, Lin HJ, Lin H, MacFarlane P, Selvin E, Shaffer C, Smith AV, Verweij N, Weiss S, Cappola AR, Dörr M, Gudnason V, Heckbert S, Mooijaart S, März W et al. (2019)
    Assessment of the Relationship Between Genetic Determinants of Thyroid Function and Atrial Fibrillation: A Mendelian Randomization Study
    JAMA Cardiol, 4 (2), 144-152
    DOI 10.1001/jamacardio.2018.4635, PubMed 30673084
  20. Fosslie M, Manaf A, Lerdrup M, Hansen K, Gilfillan GD, Dahl JA (2019)
    Going low to reach high: Small-scale ChIP-seq maps new terrain
    Wiley Interdiscip Rev Syst Biol Med, e1465
    DOI 10.1002/wsbm.1465, PubMed 31478357
  21. Frei O, Holland D, Smeland OB, Shadrin AA, Fan CC, Maeland S, O'Connell KS, Wang Y, Djurovic S, Thompson WK, Andreassen OA, Dale AM (2019)
    Bivariate causal mixture model quantifies polygenic overlap between complex traits beyond genetic correlation
    Nat Commun, 10 (1), 2417
    DOI 10.1038/s41467-019-10310-0, PubMed 31160569
  22. Furi L, Crawford LA, Rangel-Pineros G, Manso AS, De Ste Croix M, Haigh RD, Kwun MJ, Engelsen Fjelland K, Gilfillan GD, Bentley SD, Croucher NJ, Clokie MR, Oggioni MR (2019)
    Methylation Warfare: Interaction of Pneumococcal Bacteriophages with Their Host
    J Bacteriol, 201 (19)
    DOI 10.1128/JB.00370-19, PubMed 31285240
  23. Gabrielsen ISM, Helgeland H, Akselsen H, D Aass HC, Sundaram AYM, Snowhite IV, Pugliese A, Flåm ST, Lie BA (2019)
    Transcriptomes of antigen presenting cells in human thymus
    PLoS One, 14 (7), e0218858
    DOI 10.1371/journal.pone.0218858, PubMed 31261375
  24. Gervin K, Salas LA, Bakulski KM, van Zelm MC, Koestler DC, Wiencke JK, Duijts L, Moll HA, Kelsey KT, Kobor MS, Lyle R, Christensen BC, Felix JF, Jones MJ (2019)
    Systematic evaluation and validation of reference and library selection methods for deconvolution of cord blood DNA methylation data
    Clin Epigenetics, 11 (1), 125
    DOI 10.1186/s13148-019-0717-y, PubMed 31455416
  25. Grove J, Ripke S, Als TD, Mattheisen M, Walters RK, Won H, Pallesen J, Agerbo E, Andreassen OA, Anney R, Awashti S, Belliveau R, Bettella F, Buxbaum JD, Bybjerg-Grauholm J, Bækvad-Hansen M, Cerrato F, Chambert K, Christensen JH, Churchhouse C, Dellenvall K, Demontis D, De Rubeis S, Devlin B, Djurovic S et al. (2019)
    Identification of common genetic risk variants for autism spectrum disorder
    Nat Genet, 51 (3), 431-444
    DOI 10.1038/s41588-019-0344-8, PubMed 30804558
  26. Gudmundsson OO, Walters GB, Ingason A, Johansson S, Zayats T, Athanasiu L, Sonderby IE, Gustafsson O, Nawaz MS, Jonsson GF, Jonsson L, Knappskog PM, Ingvarsdottir E, Davidsdottir K, Djurovic S, Knudsen GPS, Askeland RB, Haraldsdottir GS, Baldursson G, Magnusson P, Sigurdsson E, Gudbjartsson DF, Stefansson H, Andreassen OA, Haavik J et al. (2019)
    Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder
    Transl Psychiatry, 9 (1), 258
    DOI 10.1038/s41398-019-0599-y, PubMed 31624239
  27. Heinicke F, Zhong X, Zucknick M, Breidenbach J, Sundaram AYM, T Flåm S, Leithaug M, Dalland M, Farmer A, Henderson JM, Hussong MA, Moll P, Nguyen L, McNulty A, Shaffer JM, Shore S, Yip HK, Vitkovska J, Rayner S, Lie BA, Gilfillan GD (2019)
    Systematic assessment of commercially available low-input miRNA library preparation kits
    RNA Biol
    DOI 10.1080/15476286.2019.1667741, PubMed 31559901
  28. Helgeland J, Tomic O, Hansen TM, Kristoffersen DT, Hassani S, Lindahl AK (2019)
    Postoperative wound dehiscence after laparotomy: a useful healthcare quality indicator? A cohort study based on Norwegian hospital administrative data
    BMJ Open, 9 (4), e026422
    DOI 10.1136/bmjopen-2018-026422, PubMed 30948604
  29. Henriksen MW, Breck H, von Tetzchner S, Paus B, Skjeldal OH (2019)
    Medical Issues in Adults with Rett Syndrome - A National Survey
    Dev Neurorehabil
    DOI 10.1080/17518423.2019.1646341, PubMed 31342829
  30. Holtan JP, Selmer KK, Heimdal KR, Bragadóttir R (2019)
    Inherited retinal disease in Norway - a characterization of current clinical and genetic knowledge
    Acta Ophthalmol
    DOI 10.1111/aos.14218, PubMed 31429209
  31. Holven KB, Ulven SM, Bogsrud MP (2019)
    Editorial Comment: Hyperlipidaemia and cardiovascular disease and impact of early cholesterol accumulation
    Curr Opin Lipidol, 30 (6), 490-493
    DOI 10.1097/MOL.0000000000000646, PubMed 31688171
  32. Huckins LM, Dobbyn A, Ruderfer DM, Hoffman G, Wang W, Pardiñas AF, Rajagopal VM, Als TD, T Nguyen H, Girdhar K, Boocock J, Roussos P, Fromer M, Kramer R, Domenici E, Gamazon ER, Purcell S, CommonMind Consortium, Schizophrenia Working Group of the Psychiatric Genomics Consortium, iPSYCH-GEMS Schizophrenia Working Group, Demontis D, Børglum AD, Walters JTR, O'Donovan MC, Sullivan P et al. (2019)
    Gene expression imputation across multiple brain regions provides insights into schizophrenia risk
    Nat Genet, 51 (4), 659-674
    DOI 10.1038/s41588-019-0364-4, PubMed 30911161
  33. Hughes T, Simon GP, Saito K (2019)
    Light-Healable Epoxy Polymer Networks via Anthracene Dimer Scission of Diamine Crosslinker
    ACS Appl Mater Interfaces, 11 (21), 19429-19443
    DOI 10.1021/acsami.9b02521, PubMed 31062582
  34. Jansen IE, Savage JE, Watanabe K, Bryois J, Williams DM, Steinberg S, Sealock J, Karlsson IK, Hägg S, Athanasiu L, Voyle N, Proitsi P, Witoelar A, Stringer S, Aarsland D, Almdahl IS, Andersen F, Bergh S, Bettella F, Bjornsson S, Brækhus A, Bråthen G, de Leeuw C, Desikan RS, Djurovic S et al. (2019)
    Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk
    Nat Genet, 51 (3), 404-413
    DOI 10.1038/s41588-018-0311-9, PubMed 30617256
  35. Jiang X, Finucane HK, Schumacher FR, Schmit SL, Tyrer JP, Han Y, Michailidou K, Lesseur C, Kuchenbaecker KB, Dennis J, Conti DV, Casey G, Gaudet MM, Huyghe JR, Albanes D, Aldrich MC, Andrew AS, Andrulis IL, Anton-Culver H, Antoniou AC, Antonenkova NN, Arnold SM, Aronson KJ, Arun BK, Bandera EV et al. (2019)
    Shared heritability and functional enrichment across six solid cancers
    Nat Commun, 10 (1), 431
    DOI 10.1038/s41467-018-08054-4, PubMed 30683880
  36. Jiang X, Finucane HK, Schumacher FR, Schmit SL, Tyrer JP, Han Y, Michailidou K, Lesseur C, Kuchenbaecker KB, Dennis J, Conti DV, Casey G, Gaudet MM, Huyghe JR, Albanes D, Aldrich MC, Andrew AS, Andrulis IL, Anton-Culver H, Antoniou AC, Antonenkova NN, Arnold SM, Aronson KJ, Arun BK, Bandera EV et al. (2019)
    Publisher Correction: Shared heritability and functional enrichment across six solid cancers
    Nat Commun, 10 (1), 4386
    DOI 10.1038/s41467-019-12095-8, PubMed 31548585
  37. Johannessen M, Haugen IB, Bakken TL, Braaten Ø (2019)
    A 22q13.33 duplication harbouring the SHANK3 gene: does it cause neuropsychiatric disorders?
    BMJ Case Rep, 12 (11)
    DOI 10.1136/bcr-2018-228258, PubMed 31678916
  38. Juvodden HT, Viken MK, Nordstrand SEH, Viste R, Westlye LT, Thorsby PM, Lie BA, Knudsen-Heier S (2019)
    HLA and sleep parameter associations in post-H1N1 narcolepsy type 1 patients and first-degree relatives
    Sleep (in press)
    DOI 10.1093/sleep/zsz239, PubMed 31606740
  39. Kalstø SM, Siland JE, Rienstra M, Christophersen IE (2019)
    Atrial Fibrillation Genetics Update: Toward Clinical Implementation
    Front Cardiovasc Med, 6, 127
    DOI 10.3389/fcvm.2019.00127, PubMed 31552271
  40. Karlsen TA, Sundaram AYM, Brinchmann JE (2019)
    Single-Cell RNA Sequencing of In Vitro Expanded Chondrocytes: MSC-Like Cells With No Evidence of Distinct Subsets
    Cartilage, 1947603519847746 (in press)
    DOI 10.1177/1947603519847746, PubMed 31072202
  41. Kaufmann T, van der Meer D, Doan NT, Schwarz E, Lund MJ, Agartz I, Alnæs D, Barch DM, Baur-Streubel R, Bertolino A, Bettella F, Beyer MK, Bøen E, Borgwardt S, Brandt CL, Buitelaar J, Celius EG, Cervenka S, Conzelmann A, Córdova-Palomera A, Dale AM, de Quervain DJF, Carlo P, Djurovic S, Dørum ES et al. (2019)
    Common brain disorders are associated with heritable patterns of apparent aging of the brain
    Nat Neurosci, 22 (10), 1617-1623
    DOI 10.1038/s41593-019-0471-7, PubMed 31551603
  42. Kjeldsen-Kragh J, Titze TL, Lie BA, Vaage JT, Kjær M (2019)
    HLA-DRB3*01:01 exhibits a dose-dependent impact on HPA-1a antibody levels in HPA-1a-immunized women
    Blood Adv, 3 (7), 945-951
    DOI 10.1182/bloodadvances.2019032227, PubMed 30923048
  43. Kotsopoulos J, Lubinski J, Lynch HT, Tung N, Armel S, Senter L, Singer CF, Fruscio R, Couch F, Weitzel JN, Karlan B, Foulkes WD, Moller P, Eisen A, Ainsworth P, Neuhausen SL, Olopade O, Sun P, Gronwald J, Narod SA, Hereditary Breast Cancer Clinical Study Group (2019)
    Oophorectomy and risk of contralateral breast cancer among BRCA1 and BRCA2 mutation carriers
    Breast Cancer Res Treat, 175 (2), 443-449
    DOI 10.1007/s10549-019-05162-7, PubMed 30756284
  44. Lam M, Hill WD, Trampush JW, Yu J, Knowles E, Davies G, Stahl E, Huckins L, Liewald DC, Djurovic S, Melle I, Sundet K, Christoforou A, Reinvang I, DeRosse P, Lundervold AJ, Steen VM, Espeseth T, Räikkönen K, Widen E, Palotie A, Eriksson JG, Giegling I, Konte B, Hartmann AM et al. (2019)
    Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways
    Am J Hum Genet, 105 (2), 334-350
    DOI 10.1016/j.ajhg.2019.06.012, PubMed 31374203
  45. Law PJ, Timofeeva M, Fernandez-Rozadilla C, Broderick P, Studd J, Fernandez-Tajes J, Farrington S, Svinti V, Palles C, Orlando G, Sud A, Holroyd A, Penegar S, Theodoratou E, Vaughan-Shaw P, Campbell H, Zgaga L, Hayward C, Campbell A, Harris S, Deary IJ, Starr J, Gatcombe L, Pinna M, Briggs S et al. (2019)
    Association analyses identify 31 new risk loci for colorectal cancer susceptibility
    Nat Commun, 10 (1), 2154
    DOI 10.1038/s41467-019-09775-w, PubMed 31089142
  46. Liang F, Lv K, Wang Y, Yuan Y, Lu L, Feng Q, Jing X, Wang H, Liu C, Rayner S, Ling S, Chen H, Wan Y, Zhou W, He L, Wu B, Qu L, Chen S, Xiong J, Li Y (2019)
    Personalized Epigenome Remodeling Under Biochemical and Psychological Changes During Long-Term Isolation Environment
    Front Physiol, 10, 932
    DOI 10.3389/fphys.2019.00932, PubMed 31417412
  47. Lin A, Sved Skottvoll F, Rayner S, Pedersen-Bjergaard S, Sullivan G, Krauss S, Ray Wilson S, Harrison S (2019)
    3D cell culture models and organ-on-a-chip: Meet separation science and mass spectrometry
    Electrophoresis
    DOI 10.1002/elps.201900170, PubMed 31544246
  48. López-Isac E, Acosta-Herrera M, Kerick M, Assassi S, Satpathy AT, Granja J, Mumbach MR, Beretta L, Simeón CP, Carreira P, Ortego-Centeno N, Castellvi I, Bossini-Castillo L, Carmona FD, Orozco G, Hunzelmann N, Distler JHW, Franke A, Lunardi C, Moroncini G, Gabrielli A, de Vries-Bouwstra J, Wijmenga C, Koeleman BPC, Nordin A et al. (2019)
    GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways
    Nat Commun, 10 (1), 4955
    DOI 10.1038/s41467-019-12760-y, PubMed 31672989
  49. Loveday C, Sud A, Litchfield K, Levy M, Holroyd A, Broderick P, Kote-Jarai Z, Dunning AM, Muir K, Peto J, Eeles R, Easton DF, Dudakia D, Orr N, Pashayan N, UK Testicular Cancer Collaboration, PRACTICAL Consortium, Reid A, Huddart RA, Houlston RS, Turnbull C (2019)
    Runs of homozygosity and testicular cancer risk
    Andrology, 7 (4), 555-564
    DOI 10.1111/andr.12667, PubMed 31310061
  50. Malt EA, Juhasz K, Frengen A, Wangensteen T, Emilsen NM, Hansen B, Agafonov O, Nilsen HL (2019)
    Neuropsychiatric phenotype in relation to gene variants in the hemizygous allele in 3q29 deletion carriers: A case series
    Mol Genet Genomic Med, 7 (9), e889
    DOI 10.1002/mgg3.889, PubMed 31347308
  51. Mancuso N, Gayther S, Gusev A, Zheng W, Penney KL, PRACTICAL consortium, Kote-Jarai Z, Eeles R, Freedman M, Haiman C, Pasaniuc B (2019)
    Author Correction: Large-scale transcriptome-wide association study identifies new prostate cancer risk regions
    Nat Commun, 10 (1), 171
    DOI 10.1038/s41467-018-08108-7, PubMed 30622272
  52. Marbach F, Rustad CF, Riess A, Đukić D, Hsieh TC, Jobani I, Prescott T, Bevot A, Erger F, Houge G, Redfors M, Altmueller J, Stokowy T, Gilissen C, Kubisch C, Scarano E, Mazzanti L, Fiskerstrand T, Krawitz PM, Lessel D, Netzer C (2019)
    The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping
    Am J Hum Genet, 104 (4), 749-757
    DOI 10.1016/j.ajhg.2019.02.021, PubMed 30905398
  53. Matejcic M, Saunders EJ, Dadaev T, Brook MN, Wang K, Sheng X, Olama AAA, Schumacher FR, Ingles SA, Govindasami K, Benlloch S, Berndt SI, Albanes D, Koutros S, Muir K, Stevens VL, Gapstur SM, Tangen CM, Batra J, Clements J, Gronberg H, Pashayan N, Schleutker J, Wolk A, West C et al. (2019)
    Author Correction: Germline variation at 8q24 and prostate cancer risk in men of European ancestry
    Nat Commun, 10 (1), 382
    DOI 10.1038/s41467-019-08293-z, PubMed 30655571
  54. Metcalfe K, Eisen A, Senter L, Armel S, Bordeleau L, Meschino WS, Pal T, Lynch HT, Tung NM, Kwong A, Ainsworth P, Karlan B, Moller P, Eng C, Weitzel JN, Sun P, Lubinski J, Narod SA, Hereditary Breast Cancer Clinical Study Group (2019)
    International trends in the uptake of cancer risk reduction strategies in women with a BRCA1 or BRCA2 mutation
    Br J Cancer, 121 (1), 15-21
    DOI 10.1038/s41416-019-0446-1, PubMed 30971774
  55. Mullins N, Bigdeli TB, Børglum AD, Coleman JRI, Demontis D, Mehta D, Power RA, Ripke S, Stahl EA, Starnawska A, Anjorin A, M.R.C.Psych, Corvin A, Sanders AR, Forstner AJ, Reif A, Koller AC, Świątkowska B, Baune BT, Müller-Myhsok B, Penninx BWJH, Pato C, Zai C, Rujescu D, Hougaard DM et al. (2019)
    GWAS of Suicide Attempt in Psychiatric Disorders and Association With Major Depression Polygenic Risk Scores
    Am J Psychiatry, 176 (8), 651-660
    DOI 10.1176/appi.ajp.2019.18080957, PubMed 31164008
  56. Mundal LJ, Hovland A, Igland J, Veierød MB, Holven KB, Bogsrud MP, Tell GS, Leren TP, Retterstøl K (2019)
    Association of Low-Density Lipoprotein Cholesterol With Risk of Aortic Valve Stenosis in Familial Hypercholesterolemia
    JAMA Cardiol (in press)
    DOI 10.1001/jamacardio.2019.3903, PubMed 31617858
  57. Mäki-Marttunen T, Kaufmann T, Elvsåshagen T, Devor A, Djurovic S, Westlye LT, Linne ML, Rietschel M, Schubert D, Borgwardt S, Efrim-Budisteanu M, Bettella F, Halnes G, Hagen E, Næss S, Ness TV, Moberget T, Metzner C, Edwards AG, Fyhn M, Dale AM, Einevoll GT, Andreassen OA (2019)
    Biophysical Psychiatry-How Computational Neuroscience Can Help to Understand the Complex Mechanisms of Mental Disorders
    Front Psychiatry, 10, 534
    DOI 10.3389/fpsyt.2019.00534, PubMed 31440172
  58. Mäki-Marttunen T, Krull F, Bettella F, Hagen E, Næss S, Ness TV, Moberget T, Elvsåshagen T, Metzner C, Devor A, Edwards AG, Fyhn M, Djurovic S, Dale AM, Andreassen OA, Einevoll GT (2019)
    Alterations in Schizophrenia-Associated Genes Can Lead to Increased Power in Delta Oscillations
    Cereb Cortex, 29 (2), 875-891
    DOI 10.1093/cercor/bhy291, PubMed 30475994
  59. Møller P, Dominguez-Valentin M, Rødland EA, Hovig E (2019)
    Causes for Frequent Pathogenic BRCA1 Variants Include Low Penetrance in Fertile Ages, Recurrent De-Novo Mutations and Genetic Drift
    Cancers (Basel), 11 (2)
    DOI 10.3390/cancers11020132, PubMed 30678073
  60. Mørch RH, Dieset I, Færden A, Reponen EJ, Hope S, Hoseth EZ, Gardsjord ES, Aas M, Iversen T, Joa I, Morken G, Agartz I, Melle I, Aukrust P, Djurovic S, Ueland T, Andreassen OA (2019)
    Inflammatory markers are altered in severe mental disorders independent of comorbid cardiometabolic disease risk factors
    Psychol Med, 49 (10), 1749-1757
    DOI 10.1017/S0033291718004142, PubMed 30688187
  61. Mørch RH, Dieset I, Færden A, Reponen EJ, Hope S, Hoseth EZ, Gardsjord ES, Aas M, Iversen T, Joa I, Morken G, Agartz I, Melle I, Aukrust P, Djurovic S, Ueland T, Andreassen OA (2019)
    Inflammatory markers are altered in severe mental disorders independent of comorbid cardiometabolic disease risk factors - ERRATUM
    Psychol Med, 49 (10), 1758
    DOI 10.1017/S0033291719000291, PubMed 30803457
  62. Page EC, Bancroft EK, Brook MN, Assel M, Hassan Al Battat M, Thomas S, Taylor N, Chamberlain A, Pope J, Raghallaigh HN, Evans DG, Rothwell J, Maehle L, Grindedal EM, James P, Mascarenhas L, McKinley J, Side L, Thomas T, van Asperen C, Vasen H, Kiemeney LA, Ringelberg J, Jensen TD, Osther PJS et al. (2019)
    Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers
    Eur Urol, 76 (6), 831-842
    DOI 10.1016/j.eururo.2019.08.019, PubMed 31537406
  63. Pardiñas AF, Holmans P, Pocklington AJ, Escott-Price V, Ripke S, Carrera N, Legge SE, Bishop S, Cameron D, Hamshere ML, Han J, Hubbard L, Lynham A, Mantripragada K, Rees E, MacCabe JH, McCarroll SA, Baune BT, Breen G, Byrne EM, Dannlowski U, Eley TC, Hayward C, Martin NG, McIntosh AM et al. (2019)
    Publisher Correction: Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection
    Nat Genet, 51 (7), 1193
    DOI 10.1038/s41588-019-0450-7, PubMed 31160808
  64. Pedersen S, Bliksrud YT, Selmer KK, Ramm-Pettersen A (2019)
    Pyruvate dehydrogenase deficiency
    Tidsskr. Nor. Laegeforen., 139 (15), 1473-1476
  65. Pedersen S, Bliksrud YT, Selmer KK, Ramm-Pettersen A (2019)
    Pyruvatdehydrogenase-mangel
    Tidsskr Nor Laegeforen, 139 (15)
    DOI 10.4045/tidsskr.18.0988, PubMed 31642628
  66. Pope MK, Ratajska A, Johnsen H, Rypdal KB, Sejersted Y, Paus B (2019)
    Diagnostics of Hereditary Connective Tissue Disorders by Genetic Next-Generation Sequencing
    Genet Test Mol Biomarkers, 23 (11), 783-790
    DOI 10.1089/gtmb.2019.0064, PubMed 31638417
  67. Richards AL, Pardiñas AF, Frizzati A, Tansey KE, Lynham AJ, Holmans P, Legge SE, Savage JE, Agartz I, Andreassen OA, Blokland GAM, Corvin A, Cosgrove D, Degenhardt F, Djurovic S, Espeseth T, Ferraro L, Gayer-Anderson C, Giegling I, van Haren NE, Hartmann AM, Hubert JJ, Jönsson EG, Konte B, Lennertz L et al. (2019)
    The Relationship Between Polygenic Risk Scores and Cognition in Schizophrenia
    Schizophr Bull (in press)
    DOI 10.1093/schbul/sbz061, PubMed 31206164
  68. Rongve A, Witoelar A, Ruiz A, Athanasiu L, Abdelnour C, Clarimon J, Heilmann-Heimbach S, Hernández I, Moreno-Grau S, de Rojas I, Morenas-Rodríguez E, Fladby T, Sando SB, Bråthen G, Blanc F, Bousiges O, Lemstra AW, van Steenoven I, Londos E, Almdahl IS, Pålhaugen L, Eriksen JA, Djurovic S, Stordal E, Saltvedt I et al. (2019)
    GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study
    Sci Rep, 9 (1), 7013
    DOI 10.1038/s41598-019-43458-2, PubMed 31065058
  69. Rongve A, Witoelar A, Ruiz A, Athanasiu L, Abdelnour C, Clarimon J, Heilmann-Heimbach S, Hernández I, Moreno-Grau S, de Rojas I, Morenas-Rodríguez E, Fladby T, Sando SB, Bråthen G, Blanc F, Bousiges O, Lemstra AW, van Steenoven I, Londos E, Almdahl IS, Pålhaugen L, Eriksen JA, Djurovic S, Stordal E, Saltvedt I et al. (2019)
    Author Correction: GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study
    Sci Rep, 9 (1), 15168
    DOI 10.1038/s41598-019-51827-0, PubMed 31619746
  70. Rydning SL, Koht J, Sheng Y, Sowa P, Hjorthaug HS, Wedding IM, Erichsen AK, Hovden IA, Backe PH, Tallaksen CME, Vigeland MD, Selmer KK (2019)
    Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis
    Brain, 142 (4), e12
    DOI 10.1093/brain/awz041, PubMed 30847471
  71. Sanyal N, Lo MT, Kauppi K, Djurovic S, Andreassen OA, Johnson VE, Chen CH (2019)
    GWASinlps: non-local prior based iterative SNP selection tool for genome-wide association studies
    Bioinformatics, 35 (1), 1-11
    DOI 10.1093/bioinformatics/bty472, PubMed 29931045
  72. Satizabal CL, Adams HHH, Hibar DP, White CC, Knol MJ, Stein JL, Scholz M, Sargurupremraj M, Jahanshad N, Roshchupkin GV, Smith AV, Bis JC, Jian X, Luciano M, Hofer E, Teumer A, van der Lee SJ, Yang J, Yanek LR, Lee TV, Li S, Hu Y, Koh JY, Eicher JD, Desrivières S et al. (2019)
    Genetic architecture of subcortical brain structures in 38,851 individuals
    Nat Genet, 51 (11), 1624-1636
    DOI 10.1038/s41588-019-0511-y, PubMed 31636452
  73. Schumacher FR, Olama AAA, Berndt SI, Benlloch S, Ahmed M, Saunders EJ, Dadaev T, Leongamornlert D, Anokian E, Cieza-Borrella C, Goh C, Brook MN, Sheng X, Fachal L, Dennis J, Tyrer J, Muir K, Lophatananon A, Stevens VL, Gapstur SM, Carter BD, Tangen CM, Goodman PJ, Thompson IM, Batra J et al. (2019)
    Author Correction: Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci
    Nat Genet, 51 (2), 363
    DOI 10.1038/s41588-018-0330-6, PubMed 30622367
  74. Schwarz E, Doan NT, Pergola G, Westlye LT, Kaufmann T, Wolfers T, Brecheisen R, Quarto T, Ing AJ, Di Carlo P, Gurholt TP, Harms RL, Noirhomme Q, Moberget T, Agartz I, Andreassen OA, Bellani M, Bertolino A, Blasi G, Brambilla P, Buitelaar JK, Cervenka S, Flyckt L, Frangou S, Franke B et al. (2019)
    Reproducible grey matter patterns index a multivariate, global alteration of brain structure in schizophrenia and bipolar disorder
    Transl Psychiatry, 9 (1), 12
    DOI 10.1038/s41398-018-0225-4, PubMed 30664633
  75. Seifert MB, Olesen MS, Christophersen IE, Nielsen JB, Carlson J, Holmqvist F, Tveit A, Haunsø S, Svendsen JH, Platonov PG (2019)
    Genetic variants on chromosomes 7p31 and 12p12 are associated with abnormal atrial electrical activation in patients with early-onset lone atrial fibrillation
    Ann Noninvasive Electrocardiol, 24 (6), e12661
    DOI 10.1111/anec.12661, PubMed 31152482
  76. Seppälä TT, Ahadova A, Dominguez-Valentin M, Macrae F, Evans DG, Therkildsen C, Sampson J, Scott R, Burn J, Möslein G, Bernstein I, Holinski-Feder E, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Lautrup CK, Lindblom A, Plazzer JP, Winship I, Tjandra D, Katz LH, Aretz S, Hüneburg R, Holzapfel S, Heinimann K et al. (2019)
    Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report
    Hered Cancer Clin Pract, 17, 8
    DOI 10.1186/s13053-019-0106-8, PubMed 30858900
  77. Skretting G, Andersen E, Myklebust CF, Sandset PM, Tinholt M, Iversen N, Stavik B (2019)
    Transcription factor FOXP3: A repressor of the TFPI gene?
    J Cell Biochem, 120 (8), 12924-12936
    DOI 10.1002/jcb.28563, PubMed 30861202
  78. Skugor A, Kjos NP, Sundaram AYM, Mydland LT, Ånestad R, Tauson AH, Øverland M (2019)
    Effects of long-term feeding of rapeseed meal on skeletal muscle transcriptome, production efficiency and meat quality traits in Norwegian Landrace growing-finishing pigs
    PLoS One, 14 (8), e0220441
    DOI 10.1371/journal.pone.0220441, PubMed 31390356
  79. Smeland OB, Bahrami S, Frei O, Shadrin A, O'Connell K, Savage J, Watanabe K, Krull F, Bettella F, Steen NE, Ueland T, Posthuma D, Djurovic S, Dale AM, Andreassen OA (2019)
    Correction: Genome-wide analysis reveals extensive genetic overlap between schizophrenia, bipolar disorder, and intelligence
    Mol Psychiatry (in press)
    DOI 10.1038/s41380-019-0456-7, PubMed 31308466
  80. Smeland OB, Bahrami S, Frei O, Shadrin A, O'Connell K, Savage J, Watanabe K, Krull F, Bettella F, Steen NE, Ueland T, Posthuma D, Djurovic S, Dale AM, Andreassen OA (2019)
    Genome-wide analysis reveals extensive genetic overlap between schizophrenia, bipolar disorder, and intelligence
    Mol Psychiatry (in press)
    DOI 10.1038/s41380-018-0332-x, PubMed 30610197
  81. Smeland OB, Frei O, Shadrin A, O'Connell K, Fan CC, Bahrami S, Holland D, Djurovic S, Thompson WK, Dale AM, Andreassen OA (2019)
    Discovery of shared genomic loci using the conditional false discovery rate approach
    Hum Genet (in press)
    DOI 10.1007/s00439-019-02060-2, PubMed 31520123
  82. Stahl EA, Breen G, Forstner AJ, McQuillin A, Ripke S, Trubetskoy V, Mattheisen M, Wang Y, Coleman JRI, Gaspar HA, de Leeuw CA, Steinberg S, Pavlides JMW, Trzaskowski M, Byrne EM, Pers TH, Holmans PA, Richards AL, Abbott L, Agerbo E, Akil H, Albani D, Alliey-Rodriguez N, Als TD, Anjorin A et al. (2019)
    Genome-wide association study identifies 30 loci associated with bipolar disorder
    Nat Genet, 51 (5), 793-803
    DOI 10.1038/s41588-019-0397-8, PubMed 31043756
  83. Steineger J, Geirdal AØ, Osnes T, Heimdal KR, Dheyauldeen S (2019)
    Intranasal bevacizumab injections improve quality of life in HHT patients
    Laryngoscope
    DOI 10.1002/lary.28179, PubMed 31287573
  84. Strøm TB, Bjune K, da Costa LT, Leren TP (2019)
    Strategies to prevent cleavage of the linker region between ligand-binding repeats 4 and 5 of the LDL receptor
    Hum Mol Genet (in press)
    DOI 10.1093/hmg/ddz164, PubMed 31332430
  85. Strøm TB, Bjune K, Leren TP (2019)
    Bone morphogenetic protein 1 cleaves the linker region between ligand-binding repeats 4 and 5 of the LDL receptor and makes the LDL receptor non-functional
    Hum Mol Genet (in press)
    DOI 10.1093/hmg/ddz238, PubMed 31600776
  86. Strøm TB, Vinje T, Bjune K, da Costa LT, Laerdahl JK, Leren TP (2019)
    Lysosomal acid lipase does not have a propeptide and should not be considered being a proprotein
    Proteins
    DOI 10.1002/prot.25821, PubMed 31587363
  87. Sud A, Thomsen H, Law PJ, Försti A, da Silva Filho MI, Holroyd A, Broderick P, Orlando G, Lenive O, Wright L, Cooke R, Easton D, Pharoah P, Dunning A, Peto J, Canzian F, Eeles R, Kote-Jarai Z, Muir K, Pashayan N, PRACTICAL consortium, Hoffmann P, Nöthen MM, Jöckel KH, von Strandmann EP et al. (2019)
    Author Correction: Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility
    Nat Commun, 10 (1), 157
    DOI 10.1038/s41467-018-08105-w, PubMed 30622283
  88. Sumathipala D, Strømme P, Gilissen C, Corominas J, Frengen E, Misceo D (2019)
    TBCK Encephaloneuropathy With Abnormal Lysosomal Storage: Use of a Structural Variant Bioinformatics Pipeline on Whole-Genome Sequencing Data Unravels a 20-Year-Old Clinical Mystery
    Pediatr Neurol, 96, 74-75
    DOI 10.1016/j.pediatrneurol.2019.02.001, PubMed 30898414
  89. Sundaram AYM, Garseth ÅH, Maccari G, Grimholt U (2019)
    An Illumina approach to MHC typing of Atlantic salmon
    Immunogenetics (in press)
    DOI 10.1007/s00251-019-01143-8, PubMed 31713647
  90. Syvertsen M, Selmer K, Enger U, Nakken KO, Pal DK, Smith A, Koht J (2019)
    Psychosocial complications in juvenile myoclonic epilepsy
    Epilepsy Behav, 90, 122-128
    DOI 10.1016/j.yebeh.2018.11.022, PubMed 30530133
  91. Sæbø Pettersen K, Sundaram AYM, Skjerdal T, Wasteson Y, Kijewski A, Lindbäck T, Aspholm M (2019)
    Exposure to Broad-Spectrum Visible Light Causes Major Transcriptomic Changes in Listeria monocytogenes EGDe
    Appl Environ Microbiol, 85 (22)
    DOI 10.1128/AEM.01462-19, PubMed 31492665
  92. Sønderby IE, Gústafsson Ó, Doan NT, Hibar DP, Martin-Brevet S, Abdellaoui A, Ames D, Amunts K, Andersson M, Armstrong NJ, Bernard M, Blackburn N, Blangero J, Boomsma DI, Bralten J, Brattbak HR, Brodaty H, Brouwer RM, Bülow R, Calhoun V, Caspers S, Cavalleri G, Chen CH, Cichon S, Ciufolini S et al. (2019)
    Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia
    Mol Psychiatry (in press)
    DOI 10.1038/s41380-019-0358-8, PubMed 30705424
  93. Tao XY, Li ML, Wang Q, Baima C, Hong M, Li W, Wu YB, Li YR, Zhao YM, Rayner S, Zhu WY (2019)
    The reemergence of human rabies and emergence of an Indian subcontinent lineage in Tibet, China
    PLoS Negl Trop Dis, 13 (1), e0007036
    DOI 10.1371/journal.pntd.0007036, PubMed 30640911
  94. Ten Broeke SW, Rodríguez-Girondo M, Suerink M, Aretz S, Bernstein I, Capellá G, Engel C, Gomez-Garcia EB, van Hest LP, von Knebel Doeberitz M, Lagerstedt-Robinson K, Letteboer TGW, Moller P, van Os TA, Pineda M, Rahner N, Olderode-Berends MJW, von Salomé J, Schackert HK, Spruijt L, Steinke-Lange V, Wagner A, Tops CMJ, Nielsen M (2019)
    The Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect
    Cancer Epidemiol Biomarkers Prev, 28 (6), 1010-1014
    DOI 10.1158/1055-9965.EPI-18-0576, PubMed 30824524
  95. Vals MA, Ashikov A, Ilves P, Loorits D, Zeng Q, Barone R, Huijben K, Sykut-Cegielska J, Diogo L, Elias AF, Greenwood RS, Grunewald S, van Hasselt PM, van de Kamp JM, Mancini G, Okninska A, Pajusalu S, Rudd PM, Rustad CF, Salvarinova R, de Vries BBA, Wolf NI, EPGEN Study, Ng BG, Freeze HH et al. (2019)
    Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients
    J Inherit Metab Dis, 42 (3), 553-564
    DOI 10.1002/jimd.12055, PubMed 30746764
  96. Vijayakrishnan J, Studd J, Broderick P, Kinnersley B, Holroyd A, Law PJ, Kumar R, Allan JM, Harrison CJ, Moorman AV, Vora A, Roman E, Rachakonda S, Kinsey SE, Sheridan E, Thompson PD, Irving JA, Koehler R, Hoffmann P, Nöthen MM, Heilmann-Heimbach S, Jöckel KH, Easton DF, Pharaoh PDP, Dunning AM et al. (2019)
    Author Correction: Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia
    Nat Commun, 10 (1), 419
    DOI 10.1038/s41467-018-08106-9, PubMed 30664635
  97. Vinje T, Laerdahl JK, Bjune K, Leren TP, Strøm TB (2019)
    Characterization of the mechanisms by which missense mutations in the lysosomal acid lipase gene disrupt enzymatic activity
    Hum Mol Genet, 28 (18), 3043-3052
    DOI 10.1093/hmg/ddz114, PubMed 31131398
  98. Wangensteen T, Felde CN, Ahmed D, Mæhle L, Ariansen SL (2019)
    Diagnostic mRNA splicing assay for variants in BRCA1 and BRCA2 identified two novel pathogenic splicing aberrations
    Hered Cancer Clin Pract, 17, 14
    DOI 10.1186/s13053-019-0113-9, PubMed 31143303
  99. Went M, Sud A, Försti A, Halvarsson BM, Weinhold N, Kimber S, van Duin M, Thorleifsson G, Holroyd A, Johnson DC, Li N, Orlando G, Law PJ, Ali M, Chen B, Mitchell JS, Gudbjartsson DF, Kuiper R, Stephens OW, Bertsch U, Broderick P, Campo C, Bandapalli OR, Einsele H, Gregory WA et al. (2019)
    Author Correction: Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma
    Nat Commun, 10 (1), 213
    DOI 10.1038/s41467-018-08107-8, PubMed 30631080
  100. Wikenius E, Myhre AM, Page CM, Moe V, Smith L, Heiervang ER, Undlien DE, LeBlanc M (2019)
    Prenatal maternal depressive symptoms and infant DNA methylation: a longitudinal epigenome-wide study
    Nord J Psychiatry, 73 (4-5), 257-263
    DOI 10.1080/08039488.2019.1613446, PubMed 31070508
  101. Writing Committee for the ENIGMA-CNV Working Group , van der Meer D, Sønderby IE, Kaufmann T, Walters GB, Abdellaoui A, Ames D, Amunts K, Andersson M, Armstrong NJ, Bernard M, Blackburn NB, Blangero J, Boomsma DI, Brodaty H, Brouwer RM, Bülow R, Cahn W, Calhoun VD, Caspers S, Cavalleri GL, Ching CRK, Cichon S, Ciufolini S, Corvin A et al. (2019)
    Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition
    JAMA Psychiatry, 1-11 (in press)
    DOI 10.1001/jamapsychiatry.2019.3779, PubMed 31665216
  102. Wu L, Wang JF, Cai QY, Cavazos TB, Emami NC, Long JR, Shu XO, Lu YC, Guo XY, Bauer JA, Pasaniuc B, Penney KL, Freedman ML, Kote-Jarai Z, Witte JS, Haiman CA, Eeles RA, Zheng W, Benlloch S, Henderson BE, Conti DV, Schumacher FR, Easton D, Al Olama AA, Muir K et al. (2019)
    Identification of Novel Susceptibility Loci and Genes for Prostate Cancer Risk: A Transcriptome-Wide Association Study in over 140,000 European Descendants
    Cancer Res., 79 (13), 3192-3204
  103. Zhong X, Heinicke F, Lie BA, Rayner S (2019)
    Accurate Adapter Information Is Crucial for Reproducibility and Reusability in Small RNA Seq Studies
    Noncoding RNA, 5 (4)
    DOI 10.3390/ncrna5040049, PubMed 31661777
  104. Zhong X, Heinicke F, Rayner S (2019)
    miRBaseMiner, a tool for investigating miRBase content
    RNA Biol, 16 (11), 1534-1546
    DOI 10.1080/15476286.2019.1637680, PubMed 31251108
  105. Zhong X, Pla A, Rayner S (2019)
    Jasmine: a Java pipeline for isomiR characterization in miRNA-Seq Data
    Bioinformatics (in press)
    DOI 10.1093/bioinformatics/btz806, PubMed 31681943
  106. Øyri LKL, Bogsrud MP, Kristiansen AL, Myhre JB, Retterstøl K, Brekke HK, Gundersen TE, Andersen LF, Holven KB (2019)
    Infant cholesterol and glycated haemoglobin concentrations vary widely-Associations with breastfeeding, infant diet and maternal biomarkers
    Acta Paediatr
    DOI 10.1111/apa.14936, PubMed 31299108
  107. Aas M, Djurovic S, Ueland T, Mørch RH, Fjæra Laskemoen J, Reponen EJ, Cattaneo A, Eiel Steen N, Agartz I, Melle I, Andreassen OA (2019)
    The relationship between physical activity, clinical and cognitive characteristics and BDNF mRNA levels in patients with severe mental disorders
    World J Biol Psychiatry, 20 (7), 567-576
    DOI 10.1080/15622975.2018.1557345, PubMed 30560709
  108. Aas M, Elvsåshagen T, Westlye LT, Kaufmann T, Athanasiu L, Djurovic S, Melle I, van der Meer D, Martin-Ruiz C, Steen NE, Agartz I, Andreassen OA (2019)
    Telomere length is associated with childhood trauma in patients with severe mental disorders
    Transl Psychiatry, 9 (1), 97
    DOI 10.1038/s41398-019-0432-7, PubMed 30898995

Publications 2018

  1. Adams CD, Richmond R, Ferreira DLS, Spiller W, Tan V, Zheng J, Würtz P, Donovan J, Hamdy F, Neal D, Lane JA, Smith GD, Relton C, Eeles RA, Haiman CA, Kote-Jarai Z, Schumacher FR, Olama AAA, Benlloch S, Muir K, Berndt SI, Conti DV, Wiklund F, Chanock SJ, Gapstur S et al. (2018)
    Circulating Metabolic Biomarkers of Screen-Detected Prostate Cancer in the ProtecT Study
    Cancer Epidemiol Biomarkers Prev, 28 (1), 208-216
    DOI 10.1158/1055-9965.EPI-18-0079, PubMed 30352818
  2. Akkouh IA, Ueland T, Andreassen OA, Brattbakk HR, Steen VM, Hughes T, Djurovic S (2018)
    Expression of TCN1 in Blood is Negatively Associated with Verbal Declarative Memory Performance
    Sci Rep, 8 (1), 12654
    DOI 10.1038/s41598-018-30898-5, PubMed 30139959
  3. Bakke KA, Howlin P, Retterstøl L, Kanavin ØJ, Heiberg A, Nærland T (2018)
    Effect of epilepsy on autism symptoms in Angelman syndrome
    Mol Autism, 9, 2
    DOI 10.1186/s13229-017-0185-1, PubMed 29340132
  4. Bakke MJ, Agusti C, Bruusgaard JC, Sundaram AYM, Horsberg TE (2018)
    Deltamethrin resistance in the salmon louse, Lepeophtheirus salmonis (Krøyer): Maternal inheritance and reduced apoptosis
    Sci Rep, 8 (1), 8450
    DOI 10.1038/s41598-018-26420-6, PubMed 29855496
  5. Berg AO, Jørgensen KN, Nerhus M, Athanasiu L, Popejoy AB, Bettella F, Norbom LCB, Gurholt TP, Dahl SR, Andreassen OA, Djurovic S, Agartz I, Melle I (2018)
    Vitamin D levels, brain volume, and genetic architecture in patients with psychosis
    PLoS One, 13 (8), e0200250
    DOI 10.1371/journal.pone.0200250, PubMed 30142216
  6. Bjune K, Sundvold H, Leren TP, Naderi S (2018)
    MK-2206, an allosteric inhibitor of AKT, stimulates LDLR expression and LDL uptake: A potential hypocholesterolemic agent
    Atherosclerosis, 276, 28-38
    DOI 10.1016/j.atherosclerosis.2018.07.009, PubMed 30025252
  7. Bjune K, Wierød L, Naderi S (2018)
    Triciribine increases LDLR expression and LDL uptake through stabilization of LDLR mRNA
    Sci Rep, 8 (1), 16174
    DOI 10.1038/s41598-018-34237-6, PubMed 30385871
  8. Cockerell I, Guenin M, Heimdal K, Bjørnvold M, Selmer KK, Rouvière O (2018)
    Renal manifestations of tuberous sclerosis complex: patients' and parents' knowledge and routines for renal follow-up - a questionnaire study
    BMC Nephrol, 19 (1), 39
    DOI 10.1186/s12882-018-0835-3, PubMed 29439672
  9. Dadaev T, Saunders EJ, Newcombe PJ, Anokian E, Leongamornlert DA, Brook MN, Cieza-Borrella C, Mijuskovic M, Wakerell S, Olama AAA, Schumacher FR, Berndt SI, Benlloch S, Ahmed M, Goh C, Sheng X, Zhang Z, Muir K, Govindasami K, Lophatananon A, Stevens VL, Gapstur SM, Carter BD, Tangen CM, Goodman P et al. (2018)
    Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants
    Nat Commun, 9 (1), 2256
    DOI 10.1038/s41467-018-04109-8, PubMed 29892050
  10. Dahl JA, Gilfillan GD (2018)
    How low can you go? Pushing the limits of low-input ChIP-seq
    Brief Funct Genomics, 17 (2), 89-95
    DOI 10.1093/bfgp/elx037, PubMed 29087438
  11. Davies G, Lam M, Harris SE, Trampush JW, Luciano M, Hill WD, Hagenaars SP, Ritchie SJ, Marioni RE, Fawns-Ritchie C, Liewald DCM, Okely JA, Ahola-Olli AV, Barnes CLK, Bertram L, Bis JC, Burdick KE, Christoforou A, DeRosse P, Djurovic S, Espeseth T, Giakoumaki S, Giddaluru S, Gustavson DE, Hayward C et al. (2018)
    Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function
    Nat Commun, 9 (1), 2098
    DOI 10.1038/s41467-018-04362-x, PubMed 29844566
  12. de Jong S, Diniz MJA, Saloma A, Gadelha A, Santoro ML, Ota VK, Noto C, Major Depressive Disorder and Bipolar Disorder Working Groups of the Psychiatric Genomics Consortium, Curtis C, Newhouse SJ, Patel H, Hall LS, O Reilly PF, Belangero SI, Bressan RA, Breen G (2018)
    Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder
    Commun Biol, 1, 163
    DOI 10.1038/s42003-018-0155-y, PubMed 30320231
  13. Dejgaard LA, Haland TF, Lie OH, Ribe M, Bjune T, Leren IS, Berge KE, Edvardsen T, Haugaa KH (2018)
    Vigorous exercise in patients with hypertrophic cardiomyopathy
    Int J Cardiol, 250, 157-163
    DOI 10.1016/j.ijcard.2017.07.015, PubMed 29169752
  14. Dieset I, Mørch RH, Hope S, Hoseth EZ, Reponen EJ, Gran JM, Aas M, Michelsen AE, Reichborn-Kjennerud T, Nesvåg R, Agartz I, Melle I, Aukrust P, Djurovic S, Ueland T, Andreassen OA (2018)
    An association between YKL-40 and type 2 diabetes in psychotic disorders
    Acta Psychiatr Scand, 139 (1), 37-45
    DOI 10.1111/acps.12971, PubMed 30328100
  15. Dominguez-Valentin M, Evans DGR, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Martins A, Møller P, Hovig E (2018)
    Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds
    Hered Cancer Clin Pract, 16, 4
    DOI 10.1186/s13053-018-0086-0, PubMed 29371908
  16. Dominguez-Valentin M, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Martins A, Møller P, Hovig E (2018)
    Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families
    Fam Cancer, 17 (1), 141-153
    DOI 10.1007/s10689-017-0011-0, PubMed 28608266
  17. Dominguez-Valentin M, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Martins A, Møller P, Hovig E (2018)
    Identification of genetic variants for clinical management of familial colorectal tumors
    BMC Med Genet, 19 (1), 26
    DOI 10.1186/s12881-018-0533-9, PubMed 29458332
  18. Dusanov S, Ruzzin J, Kiviranta H, Klemsdal TO, Retterstøl L, Rantakokko P, Airaksinen R, Djurovic S, Tonstad S (2018)
    Associations between persistent organic pollutants and metabolic syndrome in morbidly obese individuals
    Nutr Metab Cardiovasc Dis, 28 (7), 735-742
    DOI 10.1016/j.numecd.2018.03.004, PubMed 29699815
  19. EAS Familial Hypercholesterolaemia Studies Collaboration, Vallejo-Vaz AJ, De Marco M, Stevens CAT, Akram A, Freiberger T, Hovingh GK, Kastelein JJP, Mata P, Raal FJ, Santos RD, Soran H, Watts GF, Abifadel M, Aguilar-Salinas CA, Al-Khnifsawi M, AlKindi FA, Alnouri F, Alonso R, Al-Rasadi K, Al-Sarraf A, Ashavaid TF, Binder CJ, Bogsrud MP, Bourbon M et al. (2018)
    Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
    Atherosclerosis, 277, 234-255
    DOI 10.1016/j.atherosclerosis.2018.08.051, PubMed 30270054
  20. Ebenesersdóttir SS, Sandoval-Velasco M, Gunnarsdóttir ED, Jagadeesan A, Guðmundsdóttir VB, Thordardóttir EL, Einarsdóttir MS, Moore KHS, Sigurðsson Á, Magnúsdóttir DN, Jónsson H, Snorradóttir S, Hovig E, Møller P, Kockum I, Olsson T, Alfredsson L, Hansen TF, Werge T, Cavalleri GL, Gilbert E, Lalueza-Fox C, Walser JW, Kristjánsdóttir S, Gopalakrishnan S et al. (2018)
    Ancient genomes from Iceland reveal the making of a human population
    Science, 360 (6392), 1028-1032
    DOI 10.1126/science.aar2625, PubMed 29853688
  21. Eguíluz-Gracia I, Malmstrom K, Dheyauldeen SA, Lohi J, Sajantila A, Aaløkken R, Sundaram AYM, Gilfillan GD, Makela M, Baekkevold ES, Jahnsen FL (2018)
    Monocytes accumulate in the airways of children with fatal asthma
    Clin Exp Allergy, 48 (12), 1631-1639
    DOI 10.1111/cea.13265, PubMed 30184280
  22. Falkenberg-Jensen B, Heimdal KR, Høgevold HE, Jablonski GE, Due-Tønnessen BJ, Hopp E (2018)
    Abnormally wide eustachian tubes involving the sphenoid bone: A collection
    Laryngoscope Investig Otolaryngol, 3 (3), 214-217
    DOI 10.1002/lio2.158, PubMed 30062137
  23. Fjermestad KW, Nyhus L, Kanavin ØJ, Heiberg A, Hoxmark LB (2018)
    Health Survey of Adults with Neurofibromatosis 1 Compared to Population Study Controls
    J Genet Couns, 27 (5), 1102-1110
    DOI 10.1007/s10897-018-0229-5, PubMed 29429039
  24. Gamage TH, Gunnes G, Lee RH, Louch WE, Holmgren A, Bruton JD, Lengle E, Kolstad TRS, Revold T, Amundsen SS, Dalen KT, Holme PA, Tjønnfjord GE, Christensen G, Westerblad H, Klungland A, Bergmeier W, Misceo D, Frengen E (2018)
    STIM1 R304W causes muscle degeneration and impaired platelet activation in mice
    Cell Calcium, 76, 87-100
    DOI 10.1016/j.ceca.2018.10.001, PubMed 30390422
  25. Hasselberg NE, Berge KE, Rasmussen M, Früh A, Ørstavik K, Haugaa KH (2018)
    [Cardiomyopathy in hereditary muscular dystrophies]
    Tidsskr Nor Laegeforen, 138 (1)
    DOI 10.4045/tidsskr.16.0683, PubMed 29313627
  26. Hasselberg NE, Haland TF, Saberniak J, Brekke PH, Berge KE, Leren TP, Edvardsen T, Haugaa KH (2018)
    Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation
    Eur Heart J, 39 (10), 853-860
    DOI 10.1093/eurheartj/ehx596, PubMed 29095976
  27. Henriksen MW, Breck H, von Tetzchner S, Paus B, Skjeldal OH, Brodtkorb E (2018)
    Epilepsy in classic Rett syndrome: Course and characteristics in adult age
    Epilepsy Res, 145, 134-139
    DOI 10.1016/j.eplepsyres.2018.06.012, PubMed 29966812
  28. Henriksen MW, Ravn K, Paus B, von Tetzchner S, Skjeldal OH (2018)
    De novo mutations in SCN1A are associated with classic Rett syndrome: a case report
    BMC Med Genet, 19 (1), 184
    DOI 10.1186/s12881-018-0700-z, PubMed 30305042
  29. Heramb C, Wangensteen T, Grindedal EM, Ariansen SL, Lothe S, Heimdal KR, Mæhle L (2018)
    BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway
    Hered Cancer Clin Pract, 16, 3
    DOI 10.1186/s13053-017-0085-6, PubMed 29339979
  30. Hjorthaug HS, Gervin K, Mowinckel P, Munthe-Kaas MC (2018)
    Exploring the influence from whole blood DNA extraction methods on Infinium 450K DNA methylation
    PLoS One, 13 (12), e0208699
    DOI 10.1371/journal.pone.0208699, PubMed 30540848
  31. Hoseth EZ, Krull F, Dieset I, Mørch RH, Hope S, Gardsjord ES, Steen NE, Melle I, Brattbakk HR, Steen VM, Aukrust P, Djurovic S, Andreassen OA, Ueland T (2018)
    Exploring the Wnt signaling pathway in schizophrenia and bipolar disorder
    Transl Psychiatry, 8 (1), 55
    DOI 10.1038/s41398-018-0102-1, PubMed 29507296
  32. Hoseth EZ, Krull F, Dieset I, Mørch RH, Hope S, Gardsjord ES, Steen NE, Melle I, Brattbakk HR, Steen VM, Aukrust P, Djurovic S, Andreassen OA, Ueland T (2018)
    Attenuated Notch signaling in schizophrenia and bipolar disorder
    Sci Rep, 8 (1), 5349
    DOI 10.1038/s41598-018-23703-w, PubMed 29593239
  33. Hovland A, Mundal LJ, Igland J, Veierød MB, Holven KB, Bogsrud MP, Tell GS, Leren TP, Retterstøl K (2018)
    Risk of Ischemic Stroke and Total Cerebrovascular Disease in Familial Hypercholesterolemia
    Stroke, 50 (1), 172-174
    DOI 10.1161/STROKEAHA.118.023456, PubMed 30580708
  34. Hughes T, Sønderby IE, Polushina T, Hansson L, Holmgren A, Athanasiu L, Melbø-Jørgensen C, Hassani S, Hoeffding LK, Herms S, Bergen SE, Karlsson R, Song J, Rietschel M, Nöthen MM, Forstner AJ, Hoffmann P, Hultman CM, Landén M, Cichon S, Werge T, Andreassen OA, Le Hellard S, Djurovic S (2018)
    Elevated expression of a minor isoform of ANK3 is a risk factor for bipolar disorder
    Transl Psychiatry, 8 (1), 210
    DOI 10.1038/s41398-018-0175-x, PubMed 30297702
  35. Jiang X, Dong X, Li SH, Zhou YP, Rayner S, Xia HM, Gao GF, Yuan H, Tang YP, Luo MH (2018)
    Proteomic Analysis of Zika Virus Infected Primary Human Fetal Neural Progenitors Suggests a Role for Doublecortin in the Pathological Consequences of Infection in the Cortex
    Front Microbiol, 9, 1067
    DOI 10.3389/fmicb.2018.01067, PubMed 29922247
  36. Johnsen GM, Størvold GL, Drabbels JJM, Haasnoot GW, Eikmans M, Spruyt-Gerritse MJ, Alnæs-Katjavivi P, Scherjon SA, Redman CWG, Claas FHJ, Staff AC (2018)
    The combination of maternal KIR-B and fetal HLA-C2 is associated with decidua basalis acute atherosis in pregnancies with preeclampsia
    J Reprod Immunol, 129, 23-29
    DOI 10.1016/j.jri.2018.07.005, PubMed 30055414
  37. Jørstad ØK, Ødegaard EM, Heimdal KR, Kerty E (2018)
    Leber Hereditary Optic Neuropathy Caused by a Mitochondrial DNA 10663T>C Point Mutation and Its Response to Idebenone Treatment
    J Neuroophthalmol, 38 (1), 129-131
    DOI 10.1097/WNO.0000000000000598, PubMed 29210930
  38. Kaikkonen E, Rantapero T, Zhang Q, Taimen P, Laitinen V, Kallajoki M, Jambulingam D, Ettala O, Knaapila J, Boström PJ, Wahlström G, Sipeky C, Pursiheimo JP, Tammela T, Kellokumpu-Lehtinen PL, PRACTICAL Consortium, Fey V, Maehle L, Wiklund F, Wei GH, Schleutker J (2018)
    ANO7 is associated with aggressive prostate cancer
    Int J Cancer, 143 (10), 2479-2487
    DOI 10.1002/ijc.31746, PubMed 30157291
  39. Kaufmann T, Alnæs D, Brandt CL, Bettella F, Djurovic S, Andreassen OA, Westlye LT (2018)
    Stability of the Brain Functional Connectome Fingerprint in Individuals With Schizophrenia
    JAMA Psychiatry, 75 (7), 749-751
    DOI 10.1001/jamapsychiatry.2018.0844, PubMed 29799905
  40. Kaveh F, Baumbusch LO, Nebdal D, Børresen-Dale AL, Lingjærde OC, Edvardsen H, Kristensen VN, Solvang HK (2018)
    Correction to: A systematic comparison of copy number alterations in four types of female cancer
    BMC Cancer, 18 (1), 80
    DOI 10.1186/s12885-017-3766-7, PubMed 29338700
  41. Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E et al. (2018)
    KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants
    Genet Med, 21 (4), 850-860
    DOI 10.1038/s41436-018-0259-2, PubMed 30245513
  42. Kim SJ, Huzarski T, Gronwald J, Singer CF, Møller P, Lynch HT, Armel S, Karlan BY, Foulkes WD, Neuhausen SL, Senter L, Eisen A, Eng C, Panchal S, Pal T, Olopade O, Zakalik D, Lubinski J, Narod SA, Kotsopoulos J, Hereditary Breast Cancer Clinical Study Group (2018)
    Prospective evaluation of body size and breast cancer risk among BRCA1 and BRCA2 mutation carriers
    Int J Epidemiol, 47 (3), 987-997
    DOI 10.1093/ije/dyy039, PubMed 29547931
  43. Kotlarz D, Marquardt B, Barøy T, Lee WS, Konnikova L, Hollizeck S, Magg T, Lehle AS, Walz C, Borggraefe I, Hauck F, Bufler P, Conca R, Wall SM, Schumacher EM, Misceo D, Frengen E, Bentsen BS, Uhlig HH, Hopfner KP, Muise AM, Snapper SB, Strømme P, Klein C (2018)
    Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy
    Nat Genet, 50 (3), 344-348
    DOI 10.1038/s41588-018-0063-6, PubMed 29483653
  44. Kotsopoulos J, Gronwald J, Karlan B, Rosen B, Huzarski T, Moller P, Lynch HT, Singer CF, Senter L, Neuhausen SL, Tung N, Eisen A, Foulkes WD, Ainsworth P, Sun P, Lubinski J, Narod SA, Hereditary Ovarian Cancer Clinical Study Group (2018)
    Age-specific ovarian cancer risks among women with a BRCA1 or BRCA2 mutation
    Gynecol Oncol, 150 (1), 85-91
    DOI 10.1016/j.ygyno.2018.05.011, PubMed 29793803
  45. Kotsopoulos J, Gronwald J, Karlan BY, Huzarski T, Tung N, Moller P, Armel S, Lynch HT, Senter L, Eisen A, Singer CF, Foulkes WD, Jacobson MR, Sun P, Lubinski J, Narod SA, Hereditary Breast Cancer Clinical Study Group (2018)
    Hormone Replacement Therapy After Oophorectomy and Breast Cancer Risk Among BRCA1 Mutation Carriers
    JAMA Oncol, 4 (8), 1059-1065
    DOI 10.1001/jamaoncol.2018.0211, PubMed 29710224
  46. Kulkarni RU, Vandenberghe M, Thunemann M, James F, Andreassen OA, Djurovic S, Devor A, Miller EW (2018)
    In Vivo Two-Photon Voltage Imaging with Sulfonated Rhodamine Dyes
    ACS Cent Sci, 4 (10), 1371-1378
    DOI 10.1021/acscentsci.8b00422, PubMed 30410975
  47. Kverneland M, Molteberg E, Iversen PO, Veierød MB, Taubøll E, Selmer KK, Nakken KO (2018)
    Effect of modified Atkins diet in adults with drug-resistant focal epilepsy: A randomized clinical trial
    Epilepsia, 59 (8), 1567-1576
    DOI 10.1111/epi.14457, PubMed 29901816
  48. Lande A, Andersen I, Egeland T, Lie BA, Viken MK (2018)
    HLA -A, -C, -B, -DRB1, -DQB1 and -DPB1 allele and haplotype frequencies in 4514 healthy Norwegians
    Hum Immunol, 79 (7), 527-529
    DOI 10.1016/j.humimm.2018.04.012, PubMed 29684411
  49. Langerud J, Jarhelle E, Van Ghelue M, Ariansen SL, Iversen N (2018)
    Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance
    Hum Genomics, 12 (1), 51
    DOI 10.1186/s40246-018-0183-1, PubMed 30458859
  50. LeBlanc M, Nustad HE, Zucknick M, Page CM (2018)
    Quality control for Illumina 450K methylation data in the absence of iDat files using correlation structure in pedigrees and repeated measures
    BMC Genet, 19 (Suppl 1), 66
    DOI 10.1186/s12863-018-0636-5, PubMed 30255766
  51. Li W, Fan CC, Mäki-Marttunen T, Thompson WK, Schork AJ, Bettella F, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Djurovic S, Dale AM, Andreassen OA, Wang Y (2018)
    A molecule-based genetic association approach implicates a range of voltage-gated calcium channels associated with schizophrenia
    Am J Med Genet B Neuropsychiatr Genet, 177 (4), 454-467
    DOI 10.1002/ajmg.b.32634, PubMed 29704319
  52. Lillestøl K (2018)
    'Neurasthenia gastrica' revisited: perceptions of nerve-gut interactions in nervous exhaustion, 1880-1920
    Microb Ecol Health Dis, 29 (2), 1553438
    DOI 10.1080/16512235.2018.1553438, PubMed 30651725
  53. Makrythanasis P, Maroofian R, Stray-Pedersen A, Musaev D, Zaki MS, Mahmoud IG, Selim L, Elbadawy A, Jhangiani SN, Coban Akdemir ZH, Gambin T, Sorte HS, Heiberg A, McEvoy-Venneri J, James KN, Stanley V, Belandres D, Guipponi M, Santoni FA, Ahangari N, Tara F, Doosti M, Iwaszkiewicz J, Zoete V, Backe PH et al. (2018)
    Biallelic variants in KIF14 cause intellectual disability with microcephaly
    Eur J Hum Genet, 26 (3), 330-339
    DOI 10.1038/s41431-017-0088-9, PubMed 29343805
  54. Matejcic M, Saunders EJ, Dadaev T, Brook MN, Wang K, Sheng X, Olama AAA, Schumacher FR, Ingles SA, Govindasami K, Benlloch S, Berndt SI, Albanes D, Koutros S, Muir K, Stevens VL, Gapstur SM, Tangen CM, Batra J, Clements J, Gronberg H, Pashayan N, Schleutker J, Wolk A, West C et al. (2018)
    Germline variation at 8q24 and prostate cancer risk in men of European ancestry
    Nat Commun, 9 (1), 4616
    DOI 10.1038/s41467-018-06863-1, PubMed 30397198
  55. Menke LA, DDD study, Gardeitchik T, Hammond P, Heimdal KR, Houge G, Hufnagel SB, Ji J, Johansson S, Kant SG, Kinning E, Leon EL, Newbury-Ecob R, Paolacci S, Pfundt R, Ragge NK, Rinne T, Ruivenkamp C, Saitta SC, Sun Y, Tartaglia M, Terhal PA, van Essen AJ, Vigeland MD, Xiao B et al. (2018)
    Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome
    Am J Med Genet A, 176 (4), 862-876
    DOI 10.1002/ajmg.a.38626, PubMed 29460469
  56. Mikropoulos C, Hutten Selkirk CG, Saya S, Bancroft E, Vertosick E, Dadaev T, Brendler C, Page E, Dias A, Evans DG, Rothwell J, Maehle L, Axcrona K, Richardson K, Eccles D, Jensen T, Osther PJ, van Asperen CJ, Vasen H, Kiemeney LA, Ringelberg J, Cybulski C, Wokolorczyk D, Hart R, Glover W et al. (2018)
    Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition
    Br J Cancer, 118 (6), e17
    DOI 10.1038/bjc.2018.11, PubMed 29509747
  57. Mikropoulos C, Selkirk CGH, Saya S, Bancroft E, Vertosick E, Dadaev T, Brendler C, Page E, Dias A, Evans DG, Rothwell J, Maehle L, Axcrona K, Richardson K, Eccles D, Jensen T, Osther PJ, van Asperen CJ, Vasen H, Kiemeney LA, Ringelberg J, Cybulski C, Wokolorczyk D, Hart R, Glover W et al. (2018)
    Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition
    Br J Cancer, 118 (2), 266-276
    DOI 10.1038/bjc.2017.429, PubMed 29301143
  58. Mundal LJ, Igland J, Veierød MB, Holven KB, Ose L, Selmer RM, Wisloff T, Kristiansen IS, Tell GS, Leren TP, Retterstøl K (2018)
    Impact of age on excess risk of coronary heart disease in patients with familial hypercholesterolaemia
    Heart, 104 (19), 1600-1607
    DOI 10.1136/heartjnl-2017-312706, PubMed 29622598
  59. Møller P, Hovig E (2018)
    Retraction Note to: The BRCA2 variant c.68-7 T > A is associated with breast cancer
    Hered Cancer Clin Pract, 16, 10
    DOI 10.1186/s13053-018-0093-1, PubMed 29745381
  60. Navarro-Fernández J, Eugenia de la Morena-Barrio M, Martínez-Alonso E, Dybedal I, Toderici M, Bohdan N, Miñano A, Heimdal K, Abildgaard U, Martínez-Menárguez JÁ, Corral J, Vicente V (2018)
    Biochemical and cellular consequences of the antithrombin p.Met1? mutation identified in a severe thrombophilic family
    Oncotarget, 9 (69), 33202-33214
    DOI 10.18632/oncotarget.26059, PubMed 30237862
  61. Norum J, Grindedal EM, Heramb C, Karsrud I, Ariansen SL, Undlien DE, Schlichting E, Mæhle L (2018)
    BRCA mutation carrier detection. A model-based cost-effectiveness analysis comparing the traditional family history approach and the testing of all patients with breast cancer
    ESMO Open, 3 (3), e000328
    DOI 10.1136/esmoopen-2018-000328, PubMed 29682331
  62. Nustad HE, Almeida M, Canty AJ, LeBlanc M, Page CM, Melton PE (2018)
    Epigenetics, heritability and longitudinal analysis
    BMC Genet, 19 (Suppl 1), 77
    DOI 10.1186/s12863-018-0648-1, PubMed 30255778
  63. Nustad HE, Page CM, Reiner AH, Zucknick M, LeBlanc M (2018)
    A Bayesian mixed modeling approach for estimating heritability
    BMC Proc, 12 (Suppl 9), 31
    DOI 10.1186/s12919-018-0131-z, PubMed 30275883
  64. Opsahl EM, Akslen LA, Schlichting E, Aas T, Brauckhoff K, Hagen AI, Rosenlund AF, Sigstad E, Grøholt KK, Mæhle L, Engebretsen LF, Jørgensen LH, Varhaug JE, Bjøro T (2018)
    Trends in Diagnostics, Surgical Treatment, and Prognostic Factors for Outcomes in Medullary Thyroid Carcinoma in Norway: A Nationwide Population-Based Study
    Eur Thyroid J, 8 (1), 31-40
    DOI 10.1159/000493977, PubMed 30800639
  65. Pardiñas AF, Holmans P, Pocklington AJ, Escott-Price V, Ripke S, Carrera N, Legge SE, Bishop S, Cameron D, Hamshere ML, Han J, Hubbard L, Lynham A, Mantripragada K, Rees E, MacCabe JH, McCarroll SA, Baune BT, Breen G, Byrne EM, Dannlowski U, Eley TC, Hayward C, Martin NG, McIntosh AM et al. (2018)
    Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection
    Nat Genet, 50 (3), 381-389
    DOI 10.1038/s41588-018-0059-2, PubMed 29483656
  66. Paus B (2018)
    Perhaps test, often explore, always counsel
    Tidsskr Nor Laegeforen, 138 (13)
    DOI 10.4045/tidsskr.18.0574, PubMed 30180484
  67. Paus B (2018)
    The right to know amyotrophic lateral sclerosis Reply
    Tidsskr. Nor. Laegeforen., 138 (16), 1502-1503
  68. Paus B (2018)
    B. Paus responds
    Tidsskr Nor Laegeforen, 138 (16)
    DOI 10.4045/tidsskr.18.0735, PubMed 30344325
  69. Pla A, Zhong X, Rayner S (2018)
    miRAW: A deep learning-based approach to predict microRNA targets by analyzing whole microRNA transcripts
    PLoS Comput Biol, 14 (7), e1006185
    DOI 10.1371/journal.pcbi.1006185, PubMed 30005074
  70. Rama M, Duflos C, Melki I, Bessis D, Bonhomme A, Martin H, Doummar D, Valence S, Rodriguez D, Carme E, Genevieve D, Heimdal K, Insalaco A, Franck N, Queyrel-Moranne V, Tieulie N, London J, Uettwiller F, Georgin-Lavialle S, Belot A, Koné-Paut I, Hentgen V, Boursier G, Touitou I, Sarrabay G (2018)
    A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience
    Eur J Hum Genet, 26 (7), 960-971
    DOI 10.1038/s41431-018-0130-6, PubMed 29681619
  71. Riise N, Lindberg BR, Kulseth MA, Fredwall SO, Lundby R, Estensen ME, Drolsum L, Merckoll E, Krohg-Sørensen K, Paus B (2018)
    Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report
    BMC Med Genet, 19 (1), 155
    DOI 10.1186/s12881-018-0671-0, PubMed 30170566
  72. Rounge TB, Umu SU, Keller A, Meese E, Ursin G, Tretli S, Lyle R, Langseth H (2018)
    Circulating small non-coding RNAs associated with age, sex, smoking, body mass and physical activity
    Sci Rep, 8 (1), 17650
    DOI 10.1038/s41598-018-35974-4, PubMed 30518766
  73. Rydning SL, Dudesek A, Rimmele F, Funke C, Krüger S, Biskup S, Vigeland MD, Hjorthaug HS, Sejersted Y, Tallaksen C, Selmer KK, Kamm C (2018)
    A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia
    Eur J Neurol, 25 (7), 943-e71
    DOI 10.1111/ene.13625, PubMed 29528531
  74. Santoro F, Pettini E, Kazmin D, Ciabattini A, Fiorino F, Gilfillan GD, Evenroed IM, Andersen P, Pozzi G, Medaglini D (2018)
    Transcriptomics of the Vaccine Immune Response: Priming With Adjuvant Modulates Recall Innate Responses After Boosting
    Front Immunol, 9, 1248
    DOI 10.3389/fimmu.2018.01248, PubMed 29922291
  75. Savage JE, Jansen PR, Stringer S, Watanabe K, Bryois J, de Leeuw CA, Nagel M, Awasthi S, Barr PB, Coleman JRI, Grasby KL, Hammerschlag AR, Kaminski JA, Karlsson R, Krapohl E, Lam M, Nygaard M, Reynolds CA, Trampush JW, Young H, Zabaneh D, Hägg S, Hansell NK, Karlsson IK, Linnarsson S et al. (2018)
    Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence
    Nat Genet, 50 (7), 912-919
    DOI 10.1038/s41588-018-0152-6, PubMed 29942086
  76. Schumacher FR, Al Olama AA, Berndt SI, Benlloch S, Ahmed M, Saunders EJ, Dadaev T, Leongamornlert D, Anokian E, Cieza-Borrella C, Goh C, Brook MN, Sheng X, Fachal L, Dennis J, Tyrer J, Muir K, Lophatananon A, Stevens VL, Gapstur SM, Carter BD, Tangen CM, Goodman PJ, Thompson IM, Batra J et al. (2018)
    Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci
    Nat Genet, 50 (7), 928-936
    DOI 10.1038/s41588-018-0142-8, PubMed 29892016
  77. Segorbe D, Wilkinson D, Mizeranschi A, Hughes T, Aaløkken R, Váchová L, Palková Z, Gilfillan GD (2018)
    An optimized FAIRE procedure for low cell numbers in yeast
    Yeast, 35 (8), 507-512
    DOI 10.1002/yea.3316, PubMed 29577419
  78. Singer CF, Balmaña J, Bürki N, Delaloge S, Filieri ME, Gerdes AM, Grindedal EM, Han S, Johansson O, Kaufman B, Krajc M, Loman N, Olah E, Paluch-Shimon S, Plavetic ND, Pohlodek K, Rhiem K, Teixeira M, Evans DG (2018)
    Genetic counselling and testing of susceptibility genes for therapeutic decision-making in breast cancer-an European consensus statement and expert recommendations
    Eur J Cancer, 106, 54-60
    DOI 10.1016/j.ejca.2018.10.007, PubMed 30471648
  79. Sitek JC, Kulseth MA, Rypdal KB, Skodje T, Sheng Y, Retterstøl L (2018)
    Whole-exome sequencing for diagnosis of hereditary ichthyosis
    J Eur Acad Dermatol Venereol, 32 (6), 1022-1027
    DOI 10.1111/jdv.14870, PubMed 29444371
  80. Sjaastad O, Blau N, Rydning SL, Peters V, Rødningen O, Stray-Pedersen A, Krossnes B, Tallaksen C, Koht J (2018)
    Homocarnosinosis: A historical update and findings in the SPG11 gene
    Acta Neurol Scand, 138 (3), 245-250
    DOI 10.1111/ane.12949, PubMed 29732542
  81. Skogseid IM, Røsby O, Konglund A, Connelly JP, Nedregaard B, Jablonski GE, Kvernmo N, Stray-Pedersen A, Glover JC (2018)
    Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation
    J Neurodev Disord, 10 (1), 17
    DOI 10.1186/s11689-018-9235-z, PubMed 29788902
  82. Smeland OB, Wang Y, Frei O, Li W, Hibar DP, Franke B, Bettella F, Witoelar A, Djurovic S, Chen CH, Thompson PM, Dale AM, Andreassen OA (2018)
    Genetic Overlap Between Schizophrenia and Volumes of Hippocampus, Putamen, and Intracranial Volume Indicates Shared Molecular Genetic Mechanisms
    Schizophr Bull, 44 (4), 854-864
    DOI 10.1093/schbul/sbx148, PubMed 29136250
  83. Srinivasan S, Bettella F, Frei O, Hill WD, Wang Y, Witoelar A, Schork AJ, Thompson WK, Davies G, Desikan RS, Deary IJ, Melle I, Ueland T, Dale AM, Djurovic S, Smeland OB, Andreassen OA (2018)
    Enrichment of genetic markers of recent human evolution in educational and cognitive traits
    Sci Rep, 8 (1), 12585
    DOI 10.1038/s41598-018-30387-9, PubMed 30135563
  84. Steineger J, Osnes T, Heimdal K, Dheyauldeen S (2018)
    Long-term experience with intranasal bevacizumab therapy
    Laryngoscope, 128 (10), 2237-2244
    DOI 10.1002/lary.27147, PubMed 29469958
  85. Steineger J, Ueland T, Aukrust P, Michelsen A, Osnes T, Heimdal K, Dheyauldeen S (2018)
    Pentraxin 3 level is elevated in hereditary hemorrhagic telangiectasia and reflects the severity of disease-associated epistaxis
    Laryngoscope, 129 (1), E44-E49
    DOI 10.1002/lary.27548, PubMed 30329172
  86. Stokowy T, Polushina T, Sønderby IE, Karlsson R, Giddaluru S, Le Hellard S, Bergen SE, Sullivan PF, Andreassen OA, Djurovic S, Hultman CM, Steen VM (2018)
    Genetic variation in 117 myelination-related genes in schizophrenia: Replication of association to lipid biosynthesis genes
    Sci Rep, 8 (1), 6915
    DOI 10.1038/s41598-018-25280-4, PubMed 29720671
  87. Stormorken AT, Berg T, Norum OJ, Hølmebakk T, Aaberg K, Steigen SE, Grindedal EM (2018)
    APC mosaicism in a young woman with desmoid type fibromatosis and familial adenomatous polyposis
    Fam Cancer, 17 (4), 539-543
    DOI 10.1007/s10689-018-0072-8, PubMed 29368261
  88. Strømme P, Groeneweg S, Lima de Souza EC, Zevenbergen C, Torgersbråten A, Holmgren A, Gurcan E, Meima ME, Peeters RP, Visser WE, Høneren Johansson L, Babovic A, Zetterberg H, Heuer H, Frengen E, Misceo D, Visser TJ (2018)
    Mutated Thyroid Hormone Transporter OATP1C1 Associates with Severe Brain Hypometabolism and Juvenile Neurodegeneration
    Thyroid, 28 (11), 1406-1415
    DOI 10.1089/thy.2018.0595, PubMed 30296914
  89. Stüken A, Haverkamp THA, Dirven HAAM, Gilfillan GD, Leithaug M, Lund V (2018)
    Microbial Community Composition of Tap Water and Biofilms Treated with or without Copper-Silver Ionization
    Environ Sci Technol, 52 (6), 3354-3364
    DOI 10.1021/acs.est.7b05963, PubMed 29461810
  90. Størdal K, McArdle HJ, Hayes H, Tapia G, Viken MK, Lund-Blix NA, Haugen M, Joner G, Skrivarhaug T, Mårild K, Njølstad PR, Eggesbø M, Mandal S, Page CM, London SJ, Lie BA, Stene LC (2018)
    Prenatal iron exposure and childhood type 1 diabetes
    Sci Rep, 8 (1), 9067
    DOI 10.1038/s41598-018-27391-4, PubMed 29899542
  91. Szabo A, Gogolak P, Koncz G, Foldvari Z, Pazmandi K, Miltner N, Poliska S, Bacsi A, Djurovic S, Rajnavolgyi E (2018)
    Immunomodulatory capacity of the serotonin receptor 5-HT2B in a subset of human dendritic cells
    Sci Rep, 8 (1), 1765
    DOI 10.1038/s41598-018-20173-y, PubMed 29379077
  92. Søberg K, Skålhegg BS (2018)
    The Molecular Basis for Specificity at the Level of the Protein Kinase a Catalytic Subunit
    Front Endocrinol (Lausanne), 9, 538
    DOI 10.3389/fendo.2018.00538, PubMed 30258407
  93. Sønderby IE, Gústafsson Ó, Doan NT, Hibar DP, Martin-Brevet S, Abdellaoui A, Ames D, Amunts K, Andersson M, Armstrong NJ, Bernard M, Blackburn N, Blangero J, Boomsma DI, Bralten J, Brattbak HR, Brodaty H, Brouwer RM, Bülow R, Calhoun V, Caspers S, Cavalleri G, Chen CH, Cichon S, Ciufolini S et al. (2018)
    Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia
    Mol Psychiatry (in press)
    DOI 10.1038/s41380-018-0118-1, PubMed 30283035
  94. Teixeira da Costa L, Powell C, van Noort S, Costa C, Sinno M, Caleca V, Rhode C, Kennedy RJ, van Staden M, van Asch B (2018)
    The complete mitochondrial genome of Bactrocera biguttula (Bezzi) (Diptera: Tephritidae) and phylogenetic relationships with other Dacini
    Int J Biol Macromol, 126, 130-140
    DOI 10.1016/j.ijbiomac.2018.12.186, PubMed 30584936
  95. Thunemann M, Lu Y, Liu X, Kılıç K, Desjardins M, Vandenberghe M, Sadegh S, Saisan PA, Cheng Q, Weldy KL, Lyu H, Djurovic S, Andreassen OA, Dale AM, Devor A, Kuzum D (2018)
    Deep 2-photon imaging and artifact-free optogenetics through transparent graphene microelectrode arrays
    Nat Commun, 9 (1), 2035
    DOI 10.1038/s41467-018-04457-5, PubMed 29789548
  96. Tinholt M, Garred Ø, Borgen E, Beraki E, Schlichting E, Kristensen V, Sahlberg KK, Iversen N (2018)
    Subtype-specific clinical and prognostic relevance of tumor-expressed F5 and regulatory F5 variants in breast cancer: the CoCaV study
    J Thromb Haemost, 16 (7), 1347-1356
    DOI 10.1111/jth.14151, PubMed 29766637
  97. Tuveng JM, Berling BM, Bunford G, Vanoye CG, Welch RC, Leren TP, George AL, Rognum TO (2018)
    Long QT syndrome KCNH2 mutation with sequential fetal and maternal sudden death
    Forensic Sci Med Pathol, 14 (3), 367-371
    DOI 10.1007/s12024-018-9989-3, PubMed 29881912
  98. Vaccaro CA, López-Kostner F, Adriana DV, Palmero EI, Rossi BM, Antelo M, Solano A, Carraro DM, Forones NM, Bohorquez M, Lino-Silva LS, Buleje J, Spirandelli F, Abe-Sandes K, Nascimento I, Sullcahuaman Y, Sarroca C, Gonzalez ML, Herrando AI, Alvarez K, Neffa F, Galvão HC, Esperon P, Golubicki M, Cisterna D et al. (2018)
    From colorectal cancer pattern to the characterization of individuals at risk: Picture for genetic research in Latin America
    Int J Cancer, 145 (2), 318-326
    DOI 10.1002/ijc.31920, PubMed 30303536
  99. van der Meer D, Rokicki J, Kaufmann T, Córdova-Palomera A, Moberget T, Alnæs D, Bettella F, Frei O, Doan NT, Sønderby IE, Smeland OB, Agartz I, Bertolino A, Bralten J, Brandt CL, Buitelaar JK, Djurovic S, van Donkelaar M, Dørum ES, Espeseth T, Faraone SV, Fernández G, Fisher SE, Franke B, Haatveit B et al. (2018)
    Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes
    Mol Psychiatry (in press)
    DOI 10.1038/s41380-018-0262-7, PubMed 30279459
  100. Vanem TT, Geiran OR, Krohg-Sørensen K, Røe C, Paus B, Rand-Hendriksen S (2018)
    Survival, causes of death, and cardiovascular events in patients with Marfan syndrome
    Mol Genet Genomic Med, 6 (6), 1114-1123
    DOI 10.1002/mgg3.489, PubMed 30393980
  101. Wilkinson D, Maršíková J, Hlaváček O, Gilfillan GD, Ježková E, Aaløkken R, Váchová L, Palková Z (2018)
    Transcriptome Remodeling of Differentiated Cells during Chronological Ageing of Yeast Colonies: New Insights into Metabolic Differentiation
    Oxid Med Cell Longev, 2018, 4932905
    DOI 10.1155/2018/4932905, PubMed 29576850
  102. Wilkinson D, Váchová L, Hlaváček O, Maršíková J, Gilfillan GD, Palková Z (2018)
    Long Noncoding RNAs in Yeast Cells and Differentiated Subpopulations of Yeast Colonies and Biofilms
    Oxid Med Cell Longev, 2018, 4950591
    DOI 10.1155/2018/4950591, PubMed 29765496
  103. Witoelar A, Rongve A, Almdahl IS, Ulstein ID, Engvig A, White LR, Selbæk G, Stordal E, Andersen F, Brækhus A, Saltvedt I, Engedal K, Hughes T, Bergh S, Bråthen G, Bogdanovic N, Bettella F, Wang Y, Athanasiu L, Bahrami S, Le Hellard S, Giddaluru S, Dale AM, Sando SB, Steinberg S et al. (2018)
    Meta-analysis of Alzheimer's disease on 9,751 samples from Norway and IGAP study identifies four risk loci
    Sci Rep, 8 (1), 18088
    DOI 10.1038/s41598-018-36429-6, PubMed 30591712
  104. Yang B, Liu XJ, Yao Y, Jiang X, Wang XZ, Yang H, Sun JY, Miao Y, Wang W, Huang ZL, Wang Y, Tang Q, Rayner S, Britt WJ, McVoy MA, Luo MH, Zhao F (2018)
    WDR5 Facilitates Human Cytomegalovirus Replication by Promoting Capsid Nuclear Egress
    J Virol, 92 (9)
    DOI 10.1128/JVI.00207-18, PubMed 29437978
  105. Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Stray-Pedersen A, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L et al. (2018)
    Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies
    Genet Med, 21 (3), 663-675
    DOI 10.1038/s41436-018-0085-6, PubMed 30158690
  106. Zuber V, Jönsson EG, Frei O, Witoelar A, Thompson WK, Schork AJ, Bettella F, Wang Y, Djurovic S, Smeland OB, Dieset I, Fanous AH, Desikan RS, Küry S, Bézieau S, Dale AM, Mills IG, Andreassen OA (2018)
    Identification of shared genetic variants between schizophrenia and lung cancer
    Sci Rep, 8 (1), 674
    DOI 10.1038/s41598-017-16481-4, PubMed 29330379

Publications 2017

  1. Andresen MS, Ali HO, Myklebust CF, Sandset PM, Stavik B, Iversen N, Skretting G (2017)
    Estrogen induced expression of tissue factor pathway inhibitor-2 in MCF7 cells involves lysine-specific demethylase 1
    Mol Cell Endocrinol, 443, 80-88
    DOI 10.1016/j.mce.2017.01.016, PubMed 28088469
  2. Ansar M, Riazuddin S, Sarwar MT, Makrythanasis P, Paracha SA, Iqbal Z, Khan J, Assir MZ, Hussain M, Razzaq A, Polla DL, Taj AS, Holmgren A, Batool N, Misceo D, Iwaszkiewicz J, de Brouwer APM, Guipponi M, Hanquinet S, Zoete V, Santoni FA, Frengen E, Ahmed J, Riazuddin S, van Bokhoven H et al. (2017)
    Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay
    Genet Med, 20 (7), 778-784
    DOI 10.1038/gim.2017.113, PubMed 28837161
  3. Bjørgo K, Fjær R, Mørk HH, Ferdinandusse S, Falkenberg KD, Waterham HR, Øye AM, Sikiric A, Amundsen SS, Kulseth MA, Selmer K (2017)
    Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder
    Mol Genet Metab, 121 (4), 325-328
    DOI 10.1016/j.ymgme.2017.06.004, PubMed 28673549
  4. Caddeo A, Mancina RM, Pirazzi C, Russo C, Sasidharan K, Sandstedt J, Maurotti S, Montalcini T, Pujia A, Leren TP, Romeo S, Pingitore P (2017)
    Molecular analysis of three known and one novel LPL variants in patients with type I hyperlipoproteinemia
    Nutr Metab Cardiovasc Dis, 28 (2), 158-164
    DOI 10.1016/j.numecd.2017.11.003, PubMed 29288010
  5. Chen CH, Wang Y, Lo MT, Schork A, Fan CC, Holland D, Kauppi K, Smeland OB, Djurovic S, Sanyal N, Hibar DP, Thompson PM, Thompson WK, Andreassen OA, Dale AM (2017)
    Leveraging genome characteristics to improve gene discovery for putamen subcortical brain structure
    Sci Rep, 7 (1), 15736
    DOI 10.1038/s41598-017-15705-x, PubMed 29147026
  6. Chen H, Ewing CM, Zheng S, Grindedaal EM, Cooney KA, Wiley K, Djurovic S, Andreassen OA, Axcrona K, Mills IG, Xu J, Maehle L, Fosså SD, Isaacs WB (2017)
    Genetic factors influencing prostate cancer risk in Norwegian men
    Prostate, 78 (3), 186-192
    DOI 10.1002/pros.23453, PubMed 29181843
  7. Cheng S, Jiang X, Yang B, Wen L, Zhao F, Zeng WB, Liu XJ, Dong X, Sun JY, Ming YZ, Zhu H, Rayner S, Tang Q, Fortunato E, Luo MH (2017)
    Infected T98G glioblastoma cells support human cytomegalovirus reactivation from latency
    Virology, 510, 205-215
    DOI 10.1016/j.virol.2017.07.023, PubMed 28750324
  8. Cockerell I, Guenin M, Heimdal K, Bjørnvold M, Selmer KK, Rouvière O (2017)
    Prevalence of Renal Angiomyolipomas and Spontaneous Bleeding Related to Angiomyolipomas in Tuberous Sclerosis Complex Patients in France and Norway-a Questionnaire Study
    Urology, 104, 70-76
    DOI 10.1016/j.urology.2017.02.023, PubMed 28232177
  9. Cui XY, Skretting G, Tinholt M, Stavik B, Dahm AEA, Sahlberg KK, Kanse S, Iversen N, Sandset PM (2017)
    A novel hypoxia response element regulates oxygen-related repression of tissue factor pathway inhibitor in the breast cancer cell line MCF-7
    Thromb Res, 157, 111-116
    DOI 10.1016/j.thromres.2017.07.013, PubMed 28734156
  10. de Muinck EJ, Trosvik P, Gilfillan GD, Hov JR, Sundaram AYM (2017)
    A novel ultra high-throughput 16S rRNA gene amplicon sequencing library preparation method for the Illumina HiSeq platform
    Microbiome, 5 (1), 68
    DOI 10.1186/s40168-017-0279-1, PubMed 28683838
  11. Dejgaard LA, Haland TF, Lie OH, Ribe M, Bjune T, Leren IS, Berge KE, Edvardsen T, Haugaa KH (2017)
    Data on exercise and cardiac imaging in a patient cohort with hypertrophic cardiomyopathy
    Data Brief, 15, 30-39
    DOI 10.1016/j.dib.2017.08.018, PubMed 28971120
  12. Devor A, Andreassen OA, Wang Y, Mäki-Marttunen T, Smeland OB, Fan CC, Schork AJ, Holland D, Thompson WK, Witoelar A, Chen CH, Desikan RS, McEvoy LK, Djurovic S, Greengard P, Svenningsson P, Einevoll GT, Dale AM (2017)
    Genetic evidence for role of integration of fast and slow neurotransmission in schizophrenia
    Mol Psychiatry, 22 (6), 792-801
    DOI 10.1038/mp.2017.33, PubMed 28348379
  13. Doan NT, Kaufmann T, Bettella F, Jørgensen KN, Brandt CL, Moberget T, Alnæs D, Douaud G, Duff E, Djurovic S, Melle I, Ueland T, Agartz I, Andreassen OA, Westlye LT (2017)
    Distinct multivariate brain morphological patterns and their added predictive value with cognitive and polygenic risk scores in mental disorders
    Neuroimage Clin, 15, 719-731
    DOI 10.1016/j.nicl.2017.06.014, PubMed 28702349
  14. Epi4K Consortium, EuroEPINOMICS-RES Consortium, Epilepsy Phenome Genome Project (2017)
    Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data
    Eur J Hum Genet, 25 (7), 894-899
    DOI 10.1038/ejhg.2017.61, PubMed 28513609
  15. Falch CM, Sundaram AYM, Øystese KA, Normann KR, Lekva T, Silamikelis I, Eieland AK, Andersen M, Bollerslev J, Olarescu NC (2017)
    Gene expression profiling of fast- and slow-growing non-functioning gonadotroph pituitary adenomas
    Eur J Endocrinol, 178 (3), 295-307
    DOI 10.1530/EJE-17-0702, PubMed 29259037
  16. Fuglerud BM, Lemma RB, Wanichawan P, Sundaram AYM, Eskeland R, Gabrielsen OS (2017)
    A c-Myb mutant causes deregulated differentiation due to impaired histone binding and abrogated pioneer factor function
    Nucleic Acids Res, 45 (13), 7681-7696
    DOI 10.1093/nar/gkx364, PubMed 28472346
  17. Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM et al. (2017)
    YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction
    Am J Hum Genet, 100 (6), 907-925
    DOI 10.1016/j.ajhg.2017.05.006, PubMed 28575647
  18. Gervin K, Nordeng H, Ystrom E, Reichborn-Kjennerud T, Lyle R (2017)
    Long-term prenatal exposure to paracetamol is associated with DNA methylation differences in children diagnosed with ADHD
    Clin Epigenetics, 9, 77
    DOI 10.1186/s13148-017-0376-9, PubMed 28785368
  19. Grindedal EM, Heramb C, Karsrud I, Ariansen SL, Mæhle L, Undlien DE, Norum J, Schlichting E (2017)
    Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers
    BMC Cancer, 17 (1), 438
    DOI 10.1186/s12885-017-3422-2, PubMed 28637432
  20. Haland TF, Hasselberg NE, Almaas VM, Dejgaard LA, Saberniak J, Leren IS, Berge KE, Haugaa KH, Edvardsen T (2017)
    The systolic paradox in hypertrophic cardiomyopathy
    Open Heart, 4 (1), e000571
    DOI 10.1136/openhrt-2016-000571, PubMed 28674623
  21. Hamilton MJ, Caswell RC, Canham N, Cole T, Firth HV, Foulds N, Heimdal K, Hobson E, Houge G, Joss S, Kumar D, Lampe AK, Maystadt I, McKay V, Metcalfe K, Newbury-Ecob R, Park SM, Robert L, Rustad CF, Wakeling E, Wilkie AOM, Study TDDD, Twigg SRF, Suri M (2017)
    Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability
    J Med Genet, 55 (1), 28-38
    DOI 10.1136/jmedgenet-2017-104620, PubMed 29021403
  22. Hanssen EN, Lyle R, Egeland T, Gill P (2017)
    Degradation in forensic trace DNA samples explored by massively parallel sequencing
    Forensic Sci Int Genet, 27, 160-166
    DOI 10.1016/j.fsigen.2017.01.002, PubMed 28088090
  23. Henriksen EKK, Viken MK, Wittig M, Holm K, Folseraas T, Mucha S, Melum E, Hov JR, Lazaridis KN, Juran BD, Chazouillères O, Färkkilä M, Gotthardt DN, Invernizzi P, Carbone M, Hirschfield GM, Rushbrook SM, Goode E, UK-PSC Consortium, Ponsioen CY, Weersma RK, Eksteen B, Yimam KK, Gordon SC, Goldberg D et al. (2017)
    HLA haplotypes in primary sclerosing cholangitis patients of admixed and non-European ancestry
    HLA, 90 (4), 228-233
    DOI 10.1111/tan.13076, PubMed 28695657
  24. Hibar DP, Adams HHH, Jahanshad N, Chauhan G, Stein JL, Hofer E, Renteria ME, Bis JC, Arias-Vasquez A, Ikram MK, Desrivières S, Vernooij MW, Abramovic L, Alhusaini S, Amin N, Andersson M, Arfanakis K, Aribisala BS, Armstrong NJ, Athanasiu L, Axelsson T, Beecham AH, Beiser A, Bernard M, Blanton SH et al. (2017)
    Novel genetic loci associated with hippocampal volume
    Nat Commun, 8, 13624
    DOI 10.1038/ncomms13624, PubMed 28098162
  25. Holm I, Spildrejorde M, Stadheim B, Eiklid KL, Samarakoon PS (2017)
    Whole exome sequencing of sporadic patients with Currarino Syndrome: A report of three trios
    Gene, 624, 50-55
    DOI 10.1016/j.gene.2017.04.030, PubMed 28456592
  26. Hoseth EZ, Ueland T, Dieset I, Birnbaum R, Shin JH, Kleinman JE, Hyde TM, Mørch RH, Hope S, Lekva T, Abraityte AJ, Michelsen AE, Melle I, Westlye LT, Ueland T, Djurovic S, Aukrust P, Weinberger DR, Andreassen OA (2017)
    A Study of TNF Pathway Activation in Schizophrenia and Bipolar Disorder in Plasma and Brain Tissue
    Schizophr Bull, 43 (4), 881-890
    DOI 10.1093/schbul/sbw183, PubMed 28049760
  27. Hovland A, Mundal LJ, Igland J, Veierød MB, Holven KB, Bogsrud MP, Tell GS, Leren TP, Retterstøl K (2017)
    Increased risk of heart failure and atrial fibrillation in heterozygous familial hypercholesterolemia
    Atherosclerosis, 266, 69-73
    DOI 10.1016/j.atherosclerosis.2017.09.027, PubMed 28992466
  28. Jarhelle E, Riise Stensland HM, Mæhle L, Van Ghelue M (2017)
    Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort
    Fam Cancer, 16 (1), 1-16
    DOI 10.1007/s10689-016-9916-2, PubMed 27495310
  29. Jiang HF, Wang W, Jiang X, Zeng WB, Shen ZZ, Song YG, Yang H, Liu XJ, Dong X, Zhou J, Sun JY, Yu FL, Guo L, Cheng T, Rayner S, Zhao F, Zhu H, Luo MH (2017)
    ORF7 of Varicella-Zoster Virus Is Required for Viral Cytoplasmic Envelopment in Differentiated Neuronal Cells
    J Virol, 91 (12)
    DOI 10.1128/JVI.00127-17, PubMed 28356523
  30. Johannessen J, Nærland T, Hope S, Torske T, Høyland AL, Strohmaier J, Heiberg A, Rietschel M, Djurovic S, Andreassen OA (2017)
    Parents' Attitudes toward Clinical Genetic Testing for Autism Spectrum Disorder-Data from a Norwegian Sample
    Int J Mol Sci, 18 (5)
    DOI 10.3390/ijms18051078, PubMed 28524073
  31. Kling D, Egeland T, Piñero MH, Vigeland MD (2017)
    Evaluating the statistical power of DNA-based identification, exemplified by 'The missing grandchildren of Argentina'
    Forensic Sci Int Genet, 31, 57-66
    DOI 10.1016/j.fsigen.2017.08.006, PubMed 28858673
  32. Krohg-Sørensen K, Lingaas PS, Lundblad R, Seem E, Paus B, Geiran OR (2017)
    Cardiovascular surgery in Loeys-Dietz syndrome types 1-4
    Eur J Cardiothorac Surg, 52 (6), 1125-1131
    DOI 10.1093/ejcts/ezx147, PubMed 28541520
  33. Lam M, Trampush JW, Yu J, Knowles E, Davies G, Liewald DC, Starr JM, Djurovic S, Melle I, Sundet K, Christoforou A, Reinvang I, DeRosse P, Lundervold AJ, Steen VM, Espeseth T, Räikkönen K, Widen E, Palotie A, Eriksson JG, Giegling I, Konte B, Roussos P, Giakoumaki S, Burdick KE et al. (2017)
    Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets
    Cell Rep, 21 (9), 2597-2613
    DOI 10.1016/j.celrep.2017.11.028, PubMed 29186694
  34. Lande A, Kroken M, Rabben K, Retterstøl L (2017)
    Temple syndrome as a differential diagnosis to Prader-Willi syndrome: Identifying three new patients
    Am J Med Genet A, 176 (1), 175-180
    DOI 10.1002/ajmg.a.38533, PubMed 29159982
  35. Le Hellard S, Wang Y, Witoelar A, Zuber V, Bettella F, Hugdahl K, Espeseth T, Steen VM, Melle I, Desikan R, Schork AJ, Thompson WK, Dale AM, Djurovic S, Andreassen OA, Schizophrenia Working Group of the Psychiatric Genomics Consortium (2017)
    Identification of Gene Loci That Overlap Between Schizophrenia and Educational Attainment
    Schizophr Bull, 43 (3), 654-664
    DOI 10.1093/schbul/sbw085, PubMed 27338279
  36. Lee S, Norheim F, Gulseth HL, Langleite TM, Kolnes KJ, Tangen DS, Stadheim HK, Gilfillan GD, Holen T, Birkeland KI, Jensen J, Drevon CA (2017)
    Interaction between plasma fetuin-A and free fatty acids predicts changes in insulin sensitivity in response to long-term exercise
    Physiol Rep, 5 (5)
    DOI 10.14814/phy2.13183, PubMed 28270597
  37. Levin T, Mæhle L (2017)
    Uptake of genetic counseling, genetic testing and surveillance in hereditary malignant melanoma (CDKN2A) in Norway
    Fam Cancer, 16 (2), 257-265
    DOI 10.1007/s10689-016-9939-8, PubMed 27804060
  38. Liu XJ, Yang B, Huang SN, Wu CC, Li XJ, Cheng S, Jiang X, Hu F, Ming YZ, Nevels M, Britt WJ, Rayner S, Tang Q, Zeng WB, Zhao F, Luo MH (2017)
    Human cytomegalovirus IE1 downregulates Hes1 in neural progenitor cells as a potential E3 ubiquitin ligase
    PLoS Pathog, 13 (7), e1006542
    DOI 10.1371/journal.ppat.1006542, PubMed 28750047
  39. Low KJ, Ansari M, Abou Jamra R, Clarke A, El Chehadeh S, FitzPatrick DR, Greenslade M, Henderson A, Hurst J, Keller K, Kuentz P, Prescott T, Roessler F, Selmer KK, Schneider MC, Stewart F, Tatton-Brown K, Thevenon J, Vigeland MD, Vogt J, Willems M, Zonana J, Study DD, Smithson SF (2017)
    PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features
    Eur J Hum Genet, 25 (5), 552-559
    DOI 10.1038/ejhg.2017.27, PubMed 28327570
  40. Lu Y, Pouget JG, Andreassen OA, Djurovic S, Esko T, Hultman CM, Metspalu A, Milani L, Werge T, Sullivan PF (2017)
    Genetic risk scores and family history as predictors of schizophrenia in Nordic registers
    Psychol Med, 48 (7), 1201-1208
    DOI 10.1017/S0033291717002665, PubMed 28942743
  41. Maršíková J, Wilkinson D, Hlaváček O, Gilfillan GD, Mizeranschi A, Hughes T, Begany M, Rešetárová S, Váchová L, Palková Z (2017)
    Metabolic differentiation of surface and invasive cells of yeast colony biofilms revealed by gene expression profiling
    BMC Genomics, 18 (1), 814
    DOI 10.1186/s12864-017-4214-4, PubMed 29061122
  42. Mellerup E, Andreassen OA, Bennike B, Dam H, Djurovic S, Jorgensen MB, Kessing LV, Koefoed P, Melle I, Mors O, Moeller GL (2017)
    Combinations of genetic variants associated with bipolar disorder
    PLoS One, 12 (12), e0189739
    DOI 10.1371/journal.pone.0189739, PubMed 29267373
  43. Mero IL, Mørk HH, Sheng Y, Blomhoff A, Opheim GL, Erichsen A, Vigeland MD, Selmer KK (2017)
    Homozygous KIDINS220 loss-of-function variants in fetuses with cerebral ventriculomegaly and limb contractures
    Hum Mol Genet, 26 (19), 3792-3796
    DOI 10.1093/hmg/ddx263, PubMed 28934391
  44. Møller P, Hovig E (2017)
    The BRCA2 variant c.68-7 T>A is associated with breast cancer
    Hered Cancer Clin Pract, 15, 20 (Retracted)
    DOI 10.1186/s13053-017-0080-y, PubMed 29158857
  45. Møller P, Seppälä TT, Bernstein I, Holinski-Feder E, Sala P, Gareth Evans D, Lindblom A, Macrae F, Blanco I, Sijmons RH, Jeffries J, Vasen HFA, Burn J, Nakken S, Hovig E, Rødland EA, Tharmaratnam K, de Vos Tot Nederveen Cappel WH, Hill J, Wijnen JT, Jenkins MA, Green K, Lalloo F, Sunde L, Mints M et al. (2017)
    Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database
    Gut, 67 (7), 1306-1316
    DOI 10.1136/gutjnl-2017-314057, PubMed 28754778
  46. Mørch RH, Dieset I, Faerden A, Hope S, Aas M, Nerhus M, Gardsjord ES, Haram M, Falk RS, Joa I, Morken G, Agartz I, Aukrust P, Djurovic S, Melle I, Ueland T, Andreassen OA (2017)
    Persistent increase in TNF and IL-1 markers in severe mental disorders suggests trait-related inflammation: a one year follow-up study
    Acta Psychiatr Scand, 136 (4), 400-408
    DOI 10.1111/acps.12783, PubMed 28815548
  47. Mårild K, Tapia G, Haugen M, Dahl SR, Cohen AS, Lundqvist M, Lie BA, Stene LC, Størdal K (2017)
    Maternal and neonatal vitamin D status, genotype and childhood celiac disease
    PLoS One, 12 (7), e0179080
    DOI 10.1371/journal.pone.0179080, PubMed 28686601
  48. Olafsson S, Stridh P, Bos SD, Ingason A, Euesden J, Sulem P, Thorleifsson G, Gustafsson O, Johannesson A, Geirsson AJ, Thorsson AV, Sigurgeirsson B, Ludviksson BR, Olafsson E, Kristjansdottir H, Jonasson JG, Olafsson JH, Orvar KB, Benediktsson R, Bjarnason R, Kristjansdottir S, Gislason T, Valdimarsson T, Mikaelsdottir E, Sigurdsson S et al. (2017)
    Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations
    NPJ Genom Med, 2, 24
    DOI 10.1038/s41525-017-0027-2, PubMed 29263835
  49. Orstavik K, Garfelt B, Leren TP, Saberniak J, Haugaa K, Jonsrud C (2017)
    A 50 year old man with proximal power failure and heart disease
    Tidsskr. Nor. Laegeforen., 137 (16), 1206-1209
  50. Pakdaman Y, Sanchez-Guixé M, Kleppe R, Erdal S, Bustad HJ, Bjørkhaug L, Haugarvoll K, Tzoulis C, Heimdal K, Knappskog PM, Johansson S, Aukrust I (2017)
    In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins
    Biosci Rep, 37 (2)
    DOI 10.1042/BSR20170251, PubMed 28396517
  51. Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A et al. (2017)
    GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
    J Med Genet, 54 (7), 460-470
    DOI 10.1136/jmedgenet-2016-104509, PubMed 28377535
  52. Popperud TH, Viken MK, Kerty E, Lie BA (2017)
    Juvenile myasthenia gravis in Norway: HLA-DRB1*04:04 is positively associated with prepubertal onset
    PLoS One, 12 (10), e0186383
    DOI 10.1371/journal.pone.0186383, PubMed 29036181
  53. Ramm-Pettersen A, Nakken KO, Haavardsholm KC, Selmer KK (2017)
    GLUT1-deficiency syndrome: Report of a four-generation Norwegian family with a mild phenotype
    Epilepsy Behav, 70 (Pt A), 1-4
    DOI 10.1016/j.yebeh.2017.02.016, PubMed 28407523
  54. Rayner S, Bruhn S, Vallhov H, Andersson A, Billmyre RB, Scheynius A (2017)
    Identification of small RNAs in extracellular vesicles from the commensal yeast Malassezia sympodialis
    Sci Rep, 7, 39742
    DOI 10.1038/srep39742, PubMed 28051166
  55. Reppe S, Lien TG, Hsu YH, Gautvik VT, Olstad OK, Yu R, Bakke HG, Lyle R, Kringen MK, Glad IK, Gautvik KM (2017)
    Distinct DNA methylation profiles in bone and blood of osteoporotic and healthy postmenopausal women
    Epigenetics, 12 (8), 674-687
    DOI 10.1080/15592294.2017.1345832, PubMed 28650214
  56. Retterstøl K, Narverud I, Selmer R, Berge KE, Osnes IV, Ulven SM, Halvorsen B, Aukrust P, Holven KB, Iversen PO (2017)
    Severe hypertriglyceridemia in Norway: prevalence, clinical and genetic characteristics
    Lipids Health Dis, 16 (1), 115
    DOI 10.1186/s12944-017-0511-9, PubMed 28606150
  57. Rossi BM, Palmero EI, López-Kostner F, Sarroca C, Vaccaro CA, Spirandelli F, Ashton-Prolla P, Rodriguez Y, de Campos Reis Galvão H, Reis RM, Escremim de Paula A, Capochin Romagnolo LG, Alvarez K, Della Valle A, Neffa F, Kalfayan PG, Spirandelli E, Chialina S, Gutiérrez Angulo M, Castro-Mujica MDC, Sanchez de Monte J, Quispe R, da Silva SD, Rossi NT, Barletta-Carrillo C et al. (2017)
    A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America
    BMC Cancer, 17 (1), 623
    DOI 10.1186/s12885-017-3599-4, PubMed 28874130
  58. Rustad CF, Dahl HM, Bowers NL, Sitek JC, Heiberg A, Huson S, Prescott T, Evans DGR (2017)
    Neurofibromatosis type 2: Multiple intra-dermal tumors in a toddler
    Am J Med Genet A, 173 (5), 1447-1449
    DOI 10.1002/ajmg.a.38177, PubMed 28371307
  59. Rydning SL, Backe PH, Sousa MML, Iqbal Z, Øye AM, Sheng Y, Yang M, Lin X, Slupphaug G, Nordenmark TH, Vigeland MD, Bjørås M, Tallaksen CM, Selmer KK (2017)
    Novel UCHL1 mutations reveal new insights into ubiquitin processing
    Hum Mol Genet, 26 (6), 1217-1218
    DOI 10.1093/hmg/ddx072, PubMed 28334853
  60. Rydning SL, Backe PH, Sousa MML, Iqbal Z, Øye AM, Sheng Y, Yang M, Lin X, Slupphaug G, Nordenmark TH, Vigeland MD, Bjørås M, Tallaksen CM, Selmer KK (2017)
    Novel UCHL1 mutations reveal new insights into ubiquitin processing
    Hum Mol Genet, 26 (6), 1031-1040
    DOI 10.1093/hmg/ddw391, PubMed 28007905
  61. Sarropoulou E, Sundaram AYM, Kaitetzidou E, Kotoulas G, Gilfillan GD, Papandroulakis N, Mylonas CC, Magoulas A (2017)
    Full genome survey and dynamics of gene expression in the greater amberjack Seriola dumerili
    Gigascience, 6 (12), 1-13
    DOI 10.1093/gigascience/gix108, PubMed 29126158
  62. Schinagl C, Melum GR, Rødningen OK, Bjørgo K, Andresen JH (2017)
    Severe persistent pulmonary hypertension of the newborn and dysmorphic features in neonate with a deletion involving TWIST1 and PHF14: a case report
    J Med Case Rep, 11 (1), 226
    DOI 10.1186/s13256-017-1402-4, PubMed 28814329
  63. Seppälä T, Pylvänäinen K, Evans DG, Järvinen H, Renkonen-Sinisalo L, Bernstein I, Holinski-Feder E, Sala P, Lindblom A, Macrae F, Blanco I, Sijmons R, Jeffries J, Vasen H, Burn J, Nakken S, Hovig E, Rødland EA, Tharmaratnam K, de Vos Tot Nederveen Cappel WH, Hill J, Wijnen J, Jenkins M, Genuardi M, Green K et al. (2017)
    Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report
    Hered Cancer Clin Pract, 15, 18
    DOI 10.1186/s13053-017-0078-5, PubMed 29046738
  64. Sigstad E, Grøholt KK, Jørgensen K, Stormorken A, Li HS (2017)
    A woman in her thirties with breast cancer and bilateral goitre
    Tidsskr Nor Laegeforen, 137 (11), 806-809
    DOI 10.4045/tidsskr.16.0577, PubMed 28597636
  65. Smeland OB, Frei O, Kauppi K, Hill WD, Li W, Wang Y, Krull F, Bettella F, Eriksen JA, Witoelar A, Davies G, Fan CC, Thompson WK, Lam M, Lencz T, Chen CH, Ueland T, Jönsson EG, Djurovic S, Deary IJ, Dale AM, Andreassen OA, NeuroCHARGE (Cohorts for Heart and Aging Research in Genomic Epidemiology) Cognitive Working Group (2017)
    Identification of Genetic Loci Jointly Influencing Schizophrenia Risk and the Cognitive Traits of Verbal-Numerical Reasoning, Reaction Time, and General Cognitive Function
    JAMA Psychiatry, 74 (10), 1065-1075
    DOI 10.1001/jamapsychiatry.2017.1986, PubMed 28746715
  66. Smeland OB, Wang Y, Lo MT, Li W, Frei O, Witoelar A, Tesli M, Hinds DA, Tung JY, Djurovic S, Chen CH, Dale AM, Andreassen OA (2017)
    Identification of genetic loci shared between schizophrenia and the Big Five personality traits
    Sci Rep, 7 (1), 2222
    DOI 10.1038/s41598-017-02346-3, PubMed 28533504
  67. Srinivasan S, Bettella F, Hassani S, Wang Y, Witoelar A, Schork AJ, Thompson WK, Collier DA, Desikan RS, Melle I, Dale AM, Djurovic S, Andreassen OA (2017)
    Probing the Association between Early Evolutionary Markers and Schizophrenia
    PLoS One, 12 (1), e0169227
    DOI 10.1371/journal.pone.0169227, PubMed 28081145
  68. Stavik B, Holm S, Espada S, Iversen N, Sporsheim B, Bjerkeli V, Dahl TB, Sandset PM, Skjelland M, Espevik T, Skretting G, Halvorsen B (2017)
    Increased expression of TFPI in human carotid stenosis
    Thromb Res, 155, 31-37
    DOI 10.1016/j.thromres.2017.04.024, PubMed 28482260
  69. Strøm TB, Laerdahl JK, Leren TP (2017)
    Mutations affecting the transmembrane domain of the LDL receptor: impact of charged residues on the membrane insertion
    Hum Mol Genet, 26 (9), 1634-1642
    DOI 10.1093/hmg/ddx068, PubMed 28334946
  70. Størdal K, Mårild K, Tapia G, Haugen M, Cohen AS, Lie BA, Stene LC (2017)
    Fetal and Maternal Genetic Variants Influencing Neonatal Vitamin D Status
    J Clin Endocrinol Metab, 102 (11), 4072-4079
    DOI 10.1210/jc.2017-00827, PubMed 28938476
  71. Subasinghe CJ, Sirisena ND, Herath C, Berge KE, Leren TP, Bulugahapitiya U, Dissanayake VHW (2017)
    Novel mutation in the SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report
    BMC Nephrol, 18 (1), 140
    DOI 10.1186/s12882-017-0563-0, PubMed 28446151
  72. Sundaram A, Tengs T, Grimholt U (2017)
    Issues with RNA-seq analysis in non-model organisms: A salmonid example
    Dev Comp Immunol, 75, 38-47
    DOI 10.1016/j.dci.2017.02.006, PubMed 28223254
  73. Trampush JW, Yang ML, Yu J, Knowles E, Davies G, Liewald DC, Starr JM, Djurovic S, Melle I, Sundet K, Christoforou A, Reinvang I, DeRosse P, Lundervold AJ, Steen VM, Espeseth T, Räikkönen K, Widen E, Palotie A, Eriksson JG, Giegling I, Konte B, Roussos P, Giakoumaki S, Burdick KE et al. (2017)
    GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium
    Mol Psychiatry, 22 (3), 336-345
    DOI 10.1038/mp.2016.244, PubMed 28093568
  74. Trampush JW, Yang MLZ, Yu J, Knowles E, Davies G, Liewald DC, Starr JM, Djurovic S, Melle I, Sundet K, Christoforou A, Reinvang I, DeRosse P, Lundervold AJ, Steen VM, Espeseth T, Räikkönen K, Widen E, Palotie A, Eriksson JG, Giegling I, Konte B, Roussos P, Giakoumaki S, Burdick KE et al. (2017)
    GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium
    Mol Psychiatry, 22 (11), 1651-1652
    DOI 10.1038/mp.2017.197, PubMed 29068436
  75. Umu SU, Langseth H, Bucher-Johannessen C, Fromm B, Keller A, Meese E, Lauritzen M, Leithaug M, Lyle R, Rounge TB (2017)
    A comprehensive profile of circulating RNAs in human serum
    RNA Biol, 15 (2), 242-250
    DOI 10.1080/15476286.2017.1403003, PubMed 29219730
  76. Viken MK, Flåm ST, Skrivarhaug T, Amundsen SS, Sollid LM, Drivvoll AK, Joner G, Dahl-Jørgensen K, Lie BA (2017)
    HLA class II alleles in Norwegian patients with coexisting type 1 diabetes and celiac disease
    HLA, 89 (5), 278-284
    DOI 10.1111/tan.12986, PubMed 28247576
  77. Vinje T, Wierød L, Leren TP, Strøm TB (2017)
    Prevalence of cholesteryl ester storage disease among hypercholesterolemic subjects and functional characterization of mutations in the lysosomal acid lipase gene
    Mol Genet Metab, 123 (2), 169-176
    DOI 10.1016/j.ymgme.2017.11.008, PubMed 29196158
  78. Weiss K, Wigby K, Fannemel M, Henderson LB, Beck N, Ghali N, Study DDD, Anderlid BM, Lundin J, Hamosh A, Jones MC, Ghedia S, Muenke M, Kruszka P (2017)
    Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay
    Eur J Hum Genet, 25 (8), 946-951
    DOI 10.1038/ejhg.2017.86, PubMed 28513610
  79. Witoelar A, Jansen IE, Wang Y, Desikan RS, Gibbs JR, Blauwendraat C, Thompson WK, Hernandez DG, Djurovic S, Schork AJ, Bettella F, Ellinghaus D, Franke A, Lie BA, McEvoy LK, Karlsen TH, Lesage S, Morris HR, Brice A, Wood NW, Heutink P, Hardy J, Singleton AB, Dale AM, Gasser T et al. (2017)
    Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases
    JAMA Neurol, 74 (7), 780-792
    DOI 10.1001/jamaneurol.2017.0469, PubMed 28586827
  80. Witt SH, Streit F, Jungkunz M, Frank J, Awasthi S, Reinbold CS, Treutlein J, Degenhardt F, Forstner AJ, Heilmann-Heimbach S, Dietl L, Schwarze CE, Schendel D, Strohmaier J, Abdellaoui A, Adolfsson R, Air TM, Akil H, Alda M, Alliey-Rodriguez N, Andreassen OA, Babadjanova G, Bass NJ, Bauer M, Baune BT et al. (2017)
    Genome-wide association study of borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophrenia
    Transl Psychiatry, 7 (6), e1155
    DOI 10.1038/tp.2017.115, PubMed 28632202
  81. Aas M, Melle I, Bettella F, Djurovic S, Le Hellard S, Bjella T, Ringen PA, Lagerberg TV, Smeland OB, Agartz I, Andreassen OA, Tesli M (2017)
    Psychotic patients who used cannabis frequently before illness onset have higher genetic predisposition to schizophrenia than those who did not
    Psychol Med, 48 (1), 43-49
    DOI 10.1017/S0033291717001209, PubMed 28967348

Publications 2016

  1. Adams HH, Hibar DP, Chouraki V, Stein JL, Nyquist PA, Rentería ME, Trompet S, Arias-Vasquez A, Seshadri S, Desrivières S, Beecham AH, Jahanshad N, Wittfeld K, Van der Lee SJ, Abramovic L, Alhusaini S, Amin N, Andersson M, Arfanakis K, Aribisala BS, Armstrong NJ, Athanasiu L, Axelsson T, Beiser A, Bernard M et al. (2016)
    Novel genetic loci underlying human intracranial volume identified through genome-wide association
    Nat Neurosci, 19 (12), 1569-1582
    DOI 10.1038/nn.4398, PubMed 27694991
  2. Ali HO, Arroyo AB, González-Conejero R, Stavik B, Iversen N, Sandset PM, Martínez C, Skretting G (2016)
    The role of microRNA-27a/b and microRNA-494 in estrogen-mediated downregulation of tissue factor pathway inhibitor α
    J Thromb Haemost, 14 (6), 1226-37
    DOI 10.1111/jth.13321, PubMed 26999003
  3. Ali HO, Stavik B, Myklebust CF, Andersen E, Dahm AE, Iversen N, Sandset PM, Skretting G (2016)
    Oestrogens Downregulate Tissue Factor Pathway Inhibitor through Oestrogen Response Elements in the 5'-Flanking Region
    PLoS One, 11 (3), e0152114
    DOI 10.1371/journal.pone.0152114, PubMed 26999742
  4. Ansari M, Rainger J, Hanson IM, Williamson KA, Sharkey F, Harewood L, Sandilands A, Clayton-Smith J, Dollfus H, Bitoun P, Meire F, Fantes J, Franco B, Lorenz B, Taylor DS, Stewart F, Willoughby CE, McEntagart M, Khaw PT, Clericuzio C, Van Maldergem L, Williams D, Newbury-Ecob R, Traboulsi EI, Silva ED et al. (2016)
    Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome
    PLoS One, 11 (4), e0153757
    DOI 10.1371/journal.pone.0153757, PubMed 27124303
  5. Athanasiu L, Giddaluru S, Fernandes C, Christoforou A, Reinvang I, Lundervold AJ, Nilsson LG, Kauppi K, Adolfsson R, Eriksson E, Sundet K, Djurovic S, Espeseth T, Nyberg L, Steen VM, Andreassen OA, Le Hellard S (2016)
    A genetic association study of CSMD1 and CSMD2 with cognitive function
    Brain Behav Immun, 61, 209-216
    DOI 10.1016/j.bbi.2016.11.026, PubMed 27890662
  6. Barøy T, Pedurupillay CR, Bliksrud YT, Rasmussen M, Holmgren A, Vigeland MD, Hughes T, Brink M, Rodenburg R, Nedregaard B, Strømme P, Frengen E, Misceo D (2016)
    A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13
    Eur J Med Genet, 59 (6-7), 342-6
    DOI 10.1016/j.ejmg.2016.05.005, PubMed 27182039
  7. Beulig F, Urich T, Nowak M, Trumbore SE, Gleixner G, Gilfillan GD, Fjelland KE, Küsel K (2016)
    Altered carbon turnover processes and microbiomes in soils under long-term extremely high CO2 exposure
    Nat Microbiol, 1, 15025
    DOI 10.1038/nmicrobiol.2015.25, PubMed 27571979
  8. Borsting J, Culen AL, Eike MC (2016)
    AIDING GENETIC ANALYSTS: DESIGN OF A LITERATURE EVALUATION SYSTEM
    IADIS-Int. J. Comput. Sci. Inf. Syst., 11 (1), 1-16
  9. Carmona FD, Vaglio A, Mackie SL, Hernández-Rodríguez J, Monach PA, Castañeda S, Solans R, Morado IC, Narváez J, Ramentol-Sintas M, Pease CT, Dasgupta B, Watts R, Khalidi N, Langford CA, Ytterberg S, Boiardi L, Beretta L, Govoni M, Emmi G, Bonatti F, Cimmino MA, Witte T, Neumann T, Holle J et al. (2016)
    A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis
    Am J Hum Genet, 100 (1), 64-74
    DOI 10.1016/j.ajhg.2016.11.013, PubMed 28041642
  10. Cui XY, Tinholt M, Stavik B, Dahm AE, Kanse S, Jin Y, Seidl S, Sahlberg KK, Iversen N, Skretting G, Sandset PM (2016)
    Effect of hypoxia on tissue factor pathway inhibitor expression in breast cancer
    J Thromb Haemost, 14 (2), 387-96
    DOI 10.1111/jth.13206, PubMed 26598923
  11. Demain LA, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Jenkinson EM, Lourenco CM, Heiberg A, Pearce SH, Shalev SA, Yue WW, Mackinnon S, Munro KJ, Newbury-Ecob R, Becker K, Kim MJ, O' Keefe RT, Newman WG (2016)
    Expanding the genotypic spectrum of Perrault syndrome
    Clin Genet, 91 (2), 302-312
    DOI 10.1111/cge.12776, PubMed 26970254
  12. Dominguez-Valentin M, Gras Navarro A, Rahman AM, Kumar S, Retière C, Ulvestad E, Kristensen V, Lund-Johansen M, Lie BA, Enger PØ, Njølstad G, Kristoffersen E, Lie SA, Chekenya M (2016)
    Identification of a Natural Killer Cell Receptor Allele That Prolongs Survival of Cytomegalovirus-Positive Glioblastoma Patients
    Cancer Res, 76 (18), 5326-36
    DOI 10.1158/0008-5472.CAN-16-1162, PubMed 27406829
  13. Evans DG, Harkness EF, Howell A, Wilson M, Hurley E, Holmen MM, Tharmaratnam KU, Hagen AI, Lim Y, Maxwell AJ, Moller P (2016)
    Intensive breast screening in BRCA2 mutation carriers is associated with reduced breast cancer specific and all cause mortality
    Hered Cancer Clin Pract, 14, 8
    DOI 10.1186/s13053-016-0048-3, PubMed 27087880
  14. Falk A, Heine VM, Harwood AJ, Sullivan PF, Peitz M, Brüstle O, Shen S, Sun YM, Glover JC, Posthuma D, Djurovic S (2016)
    Modeling psychiatric disorders: from genomic findings to cellular phenotypes
    Mol Psychiatry, 21 (9), 1321
    DOI 10.1038/mp.2016.100, PubMed 27324182
  15. Falk A, Heine VM, Harwood AJ, Sullivan PF, Peitz M, Brüstle O, Shen S, Sun YM, Glover JC, Posthuma D, Djurovic S (2016)
    Modeling psychiatric disorders: from genomic findings to cellular phenotypes
    Mol Psychiatry, 21 (9), 1167-79
    DOI 10.1038/mp.2016.89, PubMed 27240529
  16. Filges I, Bruder E, Brandal K, Meier S, Undlien DE, Waage TR, Hoesli I, Schubach M, de Beer T, Sheng Y, Hoeller S, Schulzke S, Røsby O, Miny P, Tercanli S, Oppedal T, Meyer P, Selmer KK, Strømme P (2016)
    Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF
    Hum Mutat, 37 (7), 711
    DOI 10.1002/humu.22997, PubMed 27300082
  17. Filges I, Bruder E, Brandal K, Meier S, Undlien DE, Waage TR, Hoesli I, Schubach M, de Beer T, Sheng Y, Hoeller S, Schulzke S, Røsby O, Miny P, Tercanli S, Oppedal T, Meyer P, Selmer KK, Strømme P (2016)
    Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF
    Hum Mutat, 37 (4), 359-63
    DOI 10.1002/humu.22960, PubMed 26820108
  18. Gabrielsen IS, Amundsen SS, Helgeland H, Flåm ST, Hatinoor N, Holm K, Viken MK, Lie BA (2016)
    Genetic risk variants for autoimmune diseases that influence gene expression in thymus
    Hum Mol Genet, 25 (14), 3117-3124
    DOI 10.1093/hmg/ddw152, PubMed 27199374
  19. Gabrielsen IS, Viken MK, Amundsen SS, Helgeland H, Holm K, Flåm ST, Lie BA (2016)
    Autoimmune risk variants in ERAP2 are associated with gene-expression levels in thymus
    Genes Immun, 17 (7), 406-411
    DOI 10.1038/gene.2016.39, PubMed 27829666
  20. Gervin K, Andreassen BK, Hjorthaug HS, Carlsen KCL, Carlsen KH, Undlien DE, Lyle R, Munthe-Kaas MC (2016)
    Intra-individual changes in DNA methylation not mediated by cell-type composition are correlated with aging during childhood
    Clin Epigenetics, 8, 110
    DOI 10.1186/s13148-016-0277-3, PubMed 27785156
  21. Gervin K, Page CM, Aass HC, Jansen MA, Fjeldstad HE, Andreassen BK, Duijts L, van Meurs JB, van Zelm MC, Jaddoe VW, Nordeng H, Knudsen GP, Magnus P, Nystad W, Staff AC, Felix JF, Lyle R (2016)
    Cell type specific DNA methylation in cord blood: A 450K-reference data set and cell count-based validation of estimated cell type composition
    Epigenetics, 11 (9), 690-698
    DOI 10.1080/15592294.2016.1214782, PubMed 27494297
  22. Goscinski MA, Hole KH, Tønne E, Ryder T, Grøholt KK, Flatmark K (2016)
    Fibromatosis in vertical rectus abdominis myocutaneous flap imitating tumor recurrence after surgery for locally advanced rectal cancer: case report
    World J Surg Oncol, 14, 63
    DOI 10.1186/s12957-016-0818-4, PubMed 26940557
  23. Gunnarsson B, Jónsdóttir GA, Björnsdóttir G, Konte B, Sulem P, Kristmundsdóttir S, Kehr B, Gústafsson Ó, Helgason H, Iordache PD, Ólafsson S, Frigge ML, Þorleifsson G, Arnarsdóttir S, Stefánsdóttir B, Giegling I, Djurovic S, Sundet KS, Espeseth T, Melle I, Hartmann AM, Thorsteinsdottir U, Kong A, Guðbjartsson DF, Ettinger U et al. (2016)
    A sequence variant associating with educational attainment also affects childhood cognition
    Sci Rep, 6, 36189
    DOI 10.1038/srep36189, PubMed 27811963
  24. Gustavsen MW, Celius EG, Winsvold BS, Moen SM, Nygaard GO, Berg-Hansen P, Lie BA, Zwart JA, Harbo HF (2016)
    Migraine and frequent tension-type headache are not associated with multiple sclerosis in a Norwegian case-control study
    Mult Scler J Exp Transl Clin, 2, 2055217316682976
    DOI 10.1177/2055217316682976, PubMed 28607748
  25. Haram M, Bettella F, Brandt CL, Quintana DS, Nerhus M, Bjella T, Djurovic S, Westlye LT, Andreassen OA, Melle I, Tesli M (2016)
    Contribution of oxytocin receptor polymorphisms to amygdala activation in schizophrenia spectrum disorders
    BJPsych Open, 2 (6), 353-358
    DOI 10.1192/bjpo.bp.116.003376, PubMed 27847593
  26. Henriksen EK, Jørgensen KK, Kaveh F, Holm K, Hamm D, Olweus J, Melum E, Chung BK, Eide TJ, Lundin KE, Boberg KM, Karlsen TH, Hirschfield GM, Liaskou E (2016)
    Gut and liver T-cells of common clonal origin in primary sclerosing cholangitis-inflammatory bowel disease
    J Hepatol, 66 (1), 116-122
    DOI 10.1016/j.jhep.2016.09.002, PubMed 27647428
  27. Johannessen J, Nærland T, Bloss C, Rietschel M, Strohmaier J, Gjevik E, Heiberg A, Djurovic S, Andreassen OA (2016)
    Parents' attitudes toward genetic research in autism spectrum disorder
    Psychiatr Genet, 26 (2), 74-80
    DOI 10.1097/YPG.0000000000000121, PubMed 26867185
  28. Johansen A, Rosti RO, Musaev D, Sticca E, Harripaul R, Zaki M, Çağlayan AO, Azam M, Sultan T, Froukh T, Reis A, Popp B, Ahmed I, John P, Ayub M, Ben-Omran T, Vincent JB, Gleeson JG, Abou Jamra R (2016)
    Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features
    Am J Hum Genet, 99 (4), 912-916
    DOI 10.1016/j.ajhg.2016.07.019, PubMed 27616480
  29. Jørgensen SF, Reims HM, Frydenlund D, Holm K, Paulsen V, Michelsen AE, Jørgensen KK, Osnes LT, Bratlie J, Eide TJ, Dahl CP, Holter E, Tronstad RR, Hanevik K, Brattbakk HR, Kaveh F, Fiskerstrand T, Kran AB, Ueland T, Karlsen TH, Aukrust P, Lundin KE, Fevang B (2016)
    A Cross-Sectional Study of the Prevalence of Gastrointestinal Symptoms and Pathology in Patients With Common Variable Immunodeficiency
    Am J Gastroenterol, 111 (10), 1467-1475
    DOI 10.1038/ajg.2016.329, PubMed 27527747
  30. Kaufmann T, Alnæs D, Brandt CL, Doan NT, Kauppi K, Bettella F, Lagerberg TV, Berg AO, Djurovic S, Agartz I, Melle IS, Ueland T, Andreassen OA, Westlye LT (2016)
    Task modulations and clinical manifestations in the brain functional connectome in 1615 fMRI datasets
    Neuroimage, 147, 243-252
    DOI 10.1016/j.neuroimage.2016.11.073, PubMed 27916665
  31. Kaveh F, Baumbusch LO, Nebdal D, Børresen-Dale AL, Lingjærde OC, Edvardsen H, Kristensen VN, Solvang HK (2016)
    A systematic comparison of copy number alterations in four types of female cancer
    BMC Cancer, 16 (1), 913
    DOI 10.1186/s12885-016-2899-4, PubMed 27876019
  32. Kotsopoulos J, Huzarski T, Gronwald J, Moller P, Lynch HT, Neuhausen SL, Senter L, Demsky R, Foulkes WD, Eng C, Karlan B, Tung N, Singer CF, Sun P, Lubinski J, Narod SA (2016)
    Hormone replacement therapy after menopause and risk of breast cancer in BRCA1 mutation carriers: a case-control study
    Breast Cancer Res Treat, 155 (2), 365-73
    DOI 10.1007/s10549-016-3685-3, PubMed 26780555
  33. Kotsopoulos J, Huzarski T, Gronwald J, Singer CF, Moller P, Lynch HT, Armel S, Karlan B, Foulkes WD, Neuhausen SL, Senter L, Tung N, Weitzel JN, Eisen A, Metcalfe K, Eng C, Pal T, Evans G, Sun P, Lubinski J, Narod SA, Hereditary Breast Cancer Clinical Study Group (2016)
    Bilateral Oophorectomy and Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
    J Natl Cancer Inst, 109 (1)
    DOI 10.1093/jnci/djw177, PubMed 27601060
  34. Kuehn HS, Boisson B, Cunningham-Rundles C, Reichenbach J, Stray-Pedersen A, Gelfand EW, Maffucci P, Pierce KR, Abbott JK, Voelkerding KV, South ST, Augustine NH, Bush JS, Dolen WK, Wray BB, Itan Y, Cobat A, Sorte HS, Ganesan S, Prader S, Martins TB, Lawrence MG, Orange JS, Calvo KR, Niemela JE et al. (2016)
    Loss of B Cells in Patients with Heterozygous Mutations in IKAROS
    N Engl J Med, 374 (11), 1032-1043
    DOI 10.1056/NEJMoa1512234, PubMed 26981933
  35. Lee S, Norheim F, Langleite TM, Noreng HJ, Storås TH, Afman LA, Frost G, Bell JD, Thomas EL, Kolnes KJ, Tangen DS, Stadheim HK, Gilfillan GD, Gulseth HL, Birkeland KI, Jensen J, Drevon CA, Holen T, NutriTech Consortium (2016)
    Effect of energy restriction and physical exercise intervention on phenotypic flexibility as examined by transcriptomics analyses of mRNA from adipose tissue and whole body magnetic resonance imaging
    Physiol Rep, 4 (21)
    DOI 10.14814/phy2.13019, PubMed 27821717
  36. Lekva T, Lyle R, Roland MC, Friis C, Bianchi DW, Jaffe IZ, Norwitz ER, Bollerslev J, Henriksen T, Ueland T (2016)
    Gene expression in term placentas is regulated more by spinal or epidural anesthesia than by late-onset preeclampsia or gestational diabetes mellitus
    Sci Rep, 6, 29715
    DOI 10.1038/srep29715, PubMed 27405415
  37. Lemke JR, Geider K, Helbig KL, Heyne HO, Schütz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Møller RS, Hjalgrim H, Lal D, Neubauer BA, Nürnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Strømme P, Dlugos DJ et al. (2016)
    Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy
    Neurology, 86 (23), 2171-8
    DOI 10.1212/WNL.0000000000002740, PubMed 27164704
  38. Leren TP, Strøm TB, Berge KE (2016)
    Variable phenotypic expression of nonsense mutation p.Thr5* in the APOE gene
    Mol Genet Metab Rep, 9, 67-70
    DOI 10.1016/j.ymgmr.2016.10.007, PubMed 27830118
  39. Lien S, Koop BF, Sandve SR, Miller JR, Kent MP, Nome T, Hvidsten TR, Leong JS, Minkley DR, Zimin A, Grammes F, Grove H, Gjuvsland A, Walenz B, Hermansen RA, von Schalburg K, Rondeau EB, Di Genova A, Samy JK, Olav Vik J, Vigeland MD, Caler L, Grimholt U, Jentoft S, Våge DI et al. (2016)
    The Atlantic salmon genome provides insights into rediploidization
    Nature, 533 (7602), 200-5
    DOI 10.1038/nature17164, PubMed 27088604
  40. Lund C, Striano P, Sorte HS, Parisi P, Iacomino M, Sheng Y, Vigeland MD, Øye AM, Møller RS, Selmer KK, Zara F (2016)
    Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome
    Mol Syndromol, 7 (4), 234-238
    DOI 10.1159/000448367, PubMed 27781033
  41. Marshall CR, Howrigan DP, Merico D, Thiruvahindrapuram B, Wu W, Greer DS, Antaki D, Shetty A, Holmans PA, Pinto D, Gujral M, Brandler WM, Malhotra D, Wang Z, Fajarado KVF, Maile MS, Ripke S, Agartz I, Albus M, Alexander M, Amin F, Atkins J, Bacanu SA, Belliveau RA, Bergen SE et al. (2016)
    Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
    Nat Genet, 49 (1), 27-35
    DOI 10.1038/ng.3725, PubMed 27869829
  42. Mathapati S, Siller R, Impellizzeri AA, Lycke M, Vegheim K, Almaas R, Sullivan GJ (2016)
    Small-Molecule-Directed Hepatocyte-Like Cell Differentiation of Human Pluripotent Stem Cells
    Curr Protoc Stem Cell Biol, 38, 1G.6.1-1G.6.18
    DOI 10.1002/cpsc.13, PubMed 27532814
  43. McEntagart M, Williamson KA, Rainger JK, Wheeler A, Seawright A, De Baere E, Verdin H, Bergendahl LT, Quigley A, Rainger J, Dixit A, Sarkar A, López Laso E, Sanchez-Carpintero R, Barrio J, Bitoun P, Prescott T, Riise R, McKee S, Cook J, McKie L, Ceulemans B, Meire F, Temple IK, Prieur F et al. (2016)
    A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
    Am J Hum Genet, 98 (5), 981-992
    DOI 10.1016/j.ajhg.2016.03.018, PubMed 27108798
  44. Mehta D, Tropf FC, Gratten J, Bakshi A, Zhu Z, Bacanu SA, Hemani G, Magnusson PK, Barban N, Esko T, Metspalu A, Snieder H, Mowry BJ, Kendler KS, Yang J, Visscher PM, McGrath JJ, Mills MC, Wray NR, Lee SH, Schizophrenia Working Group of the Psychiatric Genomics Consortium, LifeLines Cohort Study, and TwinsUK, Andreassen OA, Bramon E, Bruggeman R, Buxbaum JD et al. (2016)
    Evidence for Genetic Overlap Between Schizophrenia and Age at First Birth in Women
    JAMA Psychiatry, 73 (5), 497-505
    DOI 10.1001/jamapsychiatry.2016.0129, PubMed 27007234
  45. Moen MN, Fjær R, Hamdani EH, Laerdahl JK, Menchini RJ, Vigeland MD, Sheng Y, Undlien DE, Hassel B, Salih MA, El Khashab HY, Selmer KK, Chaudhry FA (2016)
    Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport
    Brain, 139 (Pt 12), 3109-3120
    DOI 10.1093/brain/aww244, PubMed 27742667
  46. Mundal L, Igland J, Ose L, Holven KB, Veierød MB, Leren TP, Retterstøl K (2016)
    Cardiovascular disease mortality in patients with genetically verified familial hypercholesterolemia in Norway during 1992-2013
    Eur J Prev Cardiol, 24 (2), 137-144
    DOI 10.1177/2047487316676135, PubMed 27794106
  47. Mundal L, Veierød MB, Halvorsen T, Holven KB, Ose L, Iversen PO, Tell GS, Leren TP, Retterstøl K (2016)
    Cardiovascular disease in patients with genotyped familial hypercholesterolemia in Norway during 1994-2009, a registry study
    Eur J Prev Cardiol, 23 (18), 1962-1969
    DOI 10.1177/2047487316666371, PubMed 27558979
  48. Møller P, Seppälä T, Bernstein I, Holinski-Feder E, Sala P, Evans DG, Lindblom A, Macrae F, Blanco I, Sijmons R, Jeffries J, Vasen H, Burn J, Nakken S, Hovig E, Rødland EA, Tharmaratnam K, de Vos Tot Nederveen Cappel WH, Hill J, Wijnen J, Jenkins M, Green K, Lalloo F, Sunde L, Mints M et al. (2016)
    Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database
    Gut, 66 (9), 1657-1664
    DOI 10.1136/gutjnl-2016-311403, PubMed 27261338
  49. Møllersen L, Moldestad O, Rowe AD, Bjølgerud A, Holm I, Tveterås L, Klungland A, Retterstøl L (2016)
    Effects of Anthocyanins on CAG Repeat Instability and Behaviour in Huntington's Disease R6/1 Mice
    PLoS Curr, 8
    DOI 10.1371/currents.hd.58d04209ab6d5de0844db7ef5628ff67, PubMed 27540492
  50. Mørch RH, Dieset I, Færden A, Hope S, Aas M, Nerhus M, Gardsjord ES, Joa I, Morken G, Agartz I, Aukrust P, Djurovic S, Melle I, Ueland T, Andreassen OA (2016)
    Inflammatory evidence for the psychosis continuum model
    Psychoneuroendocrinology, 67, 189-97
    DOI 10.1016/j.psyneuen.2016.02.011, PubMed 26923849
  51. Nordstrom M, Paus B, Retterstol K, Kolset SO (2016)
    The prevalence of metabolic risk factors of atherosclerotic cardiovascular disease in Williams syndrome, Prader-Willi syndrome, and Down syndrome
    J. Intellect. Dev. Dis., 41 (3), 187-196
  52. Nylenna M, Breivik N, Heiberg A, Larsen Ø (2016)
    [«A most strange instance of illness in several siblings»--first description of a rare neurological disease in 1830?]
    Tidsskr Nor Laegeforen, 136 (5), 437-40
    DOI 10.4045/tidsskr.15.0844, PubMed 26983149
  53. Opsahl EM, Brauckhoff M, Schlichting E, Helset K, Svartberg J, Brauckhoff K, Mæhle L, Engebretsen LF, Sigstad E, Grøholt KK, Akslen LA, Jørgensen LH, Varhaug JE, Bjøro T (2016)
    A Nationwide Study of Multiple Endocrine Neoplasia Type 2A in Norway: Predictive and Prognostic Factors for the Clinical Course of Medullary Thyroid Carcinoma
    Thyroid, 26 (9), 1225-38
    DOI 10.1089/thy.2015.0673, PubMed 27400880
  54. Ougland R, Jonson I, Moen MN, Nesse G, Asker G, Klungland A, Larsen E (2016)
    Role of ALKBH1 in the Core Transcriptional Network of Embryonic Stem Cells
    Cell Physiol Biochem, 38 (1), 173-84
    DOI 10.1159/000438619, PubMed 26765775
  55. Pedurupillay CR, Amundsen SS, Barøy T, Rasmussen M, Blomhoff A, Stadheim BF, Ørstavik K, Holmgren A, Iqbal T, Frengen E, Misceo D, Strømme P (2016)
    Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2
    Neuromuscul Disord, 26 (9), 570-5
    DOI 10.1016/j.nmd.2016.06.457, PubMed 27450922
  56. Pedurupillay CR, Landsend EC, Vigeland MD, Ansar M, Frengen E, Misceo D, Strømme P (2016)
    Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
    Genes (Basel), 7 (8)
    DOI 10.3390/genes7080041, PubMed 27472364
  57. Peng Q, Schork A, Bartsch H, Lo MT, Panizzon MS, Pediatric Imaging, Neurocognition and Genetics Study, Alzheimer’s Disease Neuroimaging Initiative, Westlye LT, Kremen WS, Jernigan TL, Le Hellard S, Steen VM, Espeseth T, Huentelman M, Håberg AK, Agartz I, Djurovic S, Andreassen OA, Dale AM, Schork NJ, Chen CH (2016)
    Conservation of Distinct Genetically-Mediated Human Cortical Pattern
    PLoS Genet, 12 (7), e1006143
    DOI 10.1371/journal.pgen.1006143, PubMed 27459196
  58. Pingitore P, Lepore SM, Pirazzi C, Mancina RM, Motta BM, Valenti L, Berge KE, Retterstøl K, Leren TP, Wiklund O, Romeo S (2016)
    Identification and characterization of two novel mutations in the LPL gene causing type I hyperlipoproteinemia
    J Clin Lipidol, 10 (4), 816-823
    DOI 10.1016/j.jacl.2016.02.015, PubMed 27578112
  59. Prescott TE, Kulseth MA, Heimdal KR, Stadheim B, Hopp E, Gambin T, Coban Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Stray-Pedersen A (2016)
    Two male sibs with severe micrognathia and a missense variant in MED12
    Eur J Med Genet, 59 (8), 367-72
    DOI 10.1016/j.ejmg.2016.06.001, PubMed 27286923
  60. Quiles F, Teulé À, Martinussen Tandstad N, Feliubadaló L, Tornero E, Del Valle J, Menéndez M, Salinas M, Wethe Rognlien V, Velasco A, Izquierdo A, Capellá G, Brunet J, Lázaro C (2016)
    Identification of a founder BRCA1 mutation in the Moroccan population
    Clin Genet, 90 (4), 361-5
    DOI 10.1111/cge.12747, PubMed 26864382
  61. Rydning SL, Wedding IM, Koht J, Chawla M, Øye AM, Sheng Y, Vigeland MD, Selmer KK, Tallaksen CM (2016)
    A founder mutation p.H701P identified as a major cause of SPG7 in Norway
    Eur J Neurol, 23 (4), 763-71
    DOI 10.1111/ene.12937, PubMed 26756429
  62. Røsby O, Legati A, Coppola G (2016)
    Primary familial brain calcification in a Norwegian family, caused by a novel SLC20A2 gene mutation
    J Neurol, 263 (3), 594-6
    DOI 10.1007/s00415-016-8033-3, PubMed 26860091
  63. Samarakoon PS, Sorte HS, Stray-Pedersen A, Rødningen OK, Rognes T, Lyle R (2016)
    cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data
    BMC Genomics, 17, 51
    DOI 10.1186/s12864-016-2374-2, PubMed 26764020
  64. Sarropoulou E, Tsalafouta A, Sundaram AY, Gilfillan GD, Kotoulas G, Papandroulakis N, Pavlidis M (2016)
    Transcriptomic changes in relation to early-life events in the gilthead sea bream (Sparus aurata)
    BMC Genomics, 17, 506
    DOI 10.1186/s12864-016-2874-0, PubMed 27461489
  65. Skauli N, Wallace S, Chiang SC, Barøy T, Holmgren A, Stray-Pedersen A, Bryceson YT, Strømme P, Frengen E, Misceo D (2016)
    Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype
    Genes (Basel), 7 (12)
    DOI 10.3390/genes7120108, PubMed 27916860
  66. Solvang HK, Frigessi A, Kaveh F, Riis ML, Lüders T, Bukholm IR, Kristensen VN, Andreassen BK (2016)
    Gene expression analysis supports tumor threshold over 2.0 cm for T-category breast cancer
    EURASIP J Bioinform Syst Biol, 2016 (1), 6
    DOI 10.1186/s13637-015-0034-5, PubMed 26900390
  67. Sorte HS, Osnes LT, Fevang B, Aukrust P, Erichsen HC, Backe PH, Abrahamsen TG, Kittang OB, Øverland T, Jhangiani SN, Muzny DM, Vigeland MD, Samarakoon P, Gambin T, Akdemir ZH, Gibbs RA, Rødningen OK, Lyle R, Lupski JR, Stray-Pedersen A (2016)
    A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction
    Mol Genet Genomic Med, 4 (6), 604-616
    DOI 10.1002/mgg3.237, PubMed 27896283
  68. Stamberger H, Nikanorova M, Willemsen MH, Accorsi P, Angriman M, Baier H, Benkel-Herrenbrueck I, Benoit V, Budetta M, Caliebe A, Cantalupo G, Capovilla G, Casara G, Courage C, Deprez M, Destrée A, Dilena R, Erasmus CE, Fannemel M, Fjær R, Giordano L, Helbig KL, Heyne HO, Klepper J, Kluger GJ et al. (2016)
    STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy
    Neurology, 86 (10), 954-62
    DOI 10.1212/WNL.0000000000002457, PubMed 26865513
  69. Stavik B, Espada S, Cui XY, Iversen N, Holm S, Mowinkel MC, Halvorsen B, Skretting G, Sandset PM (2016)
    EPAS1/HIF-2 alpha-mediated downregulation of tissue factor pathway inhibitor leads to a pro-thrombotic potential in endothelial cells
    Biochim Biophys Acta, 1862 (4), 670-678
    DOI 10.1016/j.bbadis.2016.01.017, PubMed 26826018
  70. Sundaram AY, Hughes T, Biondi S, Bolduc N, Bowman SK, Camilli A, Chew YC, Couture C, Farmer A, Jerome JP, Lazinski DW, McUsic A, Peng X, Shazand K, Xu F, Lyle R, Gilfillan GD (2016)
    A comparative study of ChIP-seq sequencing library preparation methods
    BMC Genomics, 17 (1), 816
    DOI 10.1186/s12864-016-3135-y, PubMed 27769162
  71. Sundvold H, Sundvold-Gjerstad V, Malerød-Fjeld H, Haglund K, Stenmark H, Malerød L (2016)
    Arv1 promotes cell division by recruiting IQGAP1 and myosin to the cleavage furrow
    Cell Cycle, 15 (5), 628-43
    DOI 10.1080/15384101.2016.1146834, PubMed 27104745
  72. Svendsen AJ, Gervin K, Lyle R, Christiansen L, Kyvik K, Junker P, Nielsen C, Houen G, Tan Q (2016)
    Differentially Methylated DNA Regions in Monozygotic Twin Pairs Discordant for Rheumatoid Arthritis: An Epigenome-Wide Study
    Front Immunol, 7, 510
    DOI 10.3389/fimmu.2016.00510, PubMed 27909437
  73. Syvertsen M, Hellum MK, Hansen G, Edland A, Nakken KO, Selmer KK, Koht J (2016)
    Prevalence of juvenile myoclonic epilepsy in people <30 years of age-A population-based study in Norway
    Epilepsia, 58 (1), 105-112
    DOI 10.1111/epi.13613, PubMed 27861775
  74. Szabo A, Kovacs A, Riba J, Djurovic S, Rajnavolgyi E, Frecska E (2016)
    The Endogenous Hallucinogen and Trace Amine N,N-Dimethyltryptamine (DMT) Displays Potent Protective Effects against Hypoxia via Sigma-1 Receptor Activation in Human Primary iPSC-Derived Cortical Neurons and Microglia-Like Immune Cells
    Front Neurosci, 10, 423
    DOI 10.3389/fnins.2016.00423, PubMed 27683542
  75. Tekpli X, Urbanucci A, Hashim A, Vågbø CB, Lyle R, Kringen MK, Staff AC, Dybedal I, Mills IG, Klungland A, Staerk J (2016)
    Changes of 5-hydroxymethylcytosine distribution during myeloid and lymphoid differentiation of CD34+ cells
    Epigenetics Chromatin, 9, 21
    DOI 10.1186/s13072-016-0070-8, PubMed 27252783
  76. Tesli M, Wirgenes KV, Hughes T, Bettella F, Athanasiu L, Hoseth ES, Nerhus M, Lagerberg TV, Steen NE, Agartz I, Melle I, Dieset I, Djurovic S, Andreassen OA (2016)
    VRK2 gene expression in schizophrenia, bipolar disorder and healthy controls
    Br J Psychiatry, 209 (2), 114-20
    DOI 10.1192/bjp.bp.115.161950, PubMed 26941264
  77. Tinholt M, Sandset PM, Iversen N (2016)
    Polymorphisms of the coagulation system and risk of cancer
    Thromb Res, 140 Suppl 1, S49-54
    DOI 10.1016/S0049-3848(16)30098-6, PubMed 27067978
  78. Tinholt M, Sandset PM, Mowinckel MC, Garred Ø, Sahlberg KK, Kristensen VN, Børresen-Dale AL, Jacobsen AF, Skretting G, Iversen N (2016)
    Determinants of acquired activated protein C resistance and D-dimer in breast cancer
    Thromb Res, 145, 78-83
    DOI 10.1016/j.thromres.2016.08.003, PubMed 27505249
  79. Trucchi E, Mazzarella AB, Gilfillan GD, Lorenzo MT, Schönswetter P, Paun O (2016)
    BsRADseq: screening DNA methylation in natural populations of non-model species
    Mol Ecol, 25 (8), 1697-713
    DOI 10.1111/mec.13550, PubMed 26818626
  80. Uhlirova H, Kılıç K, Tian P, Sakadžić S, Gagnon L, Thunemann M, Desjardins M, Saisan PA, Nizar K, Yaseen MA, Hagler DJ, Vandenberghe M, Djurovic S, Andreassen OA, Silva GA, Masliah E, Kleinfeld D, Vinogradov S, Buxton RB, Einevoll GT, Boas DA, Dale AM, Devor A (2016)
    The roadmap for estimation of cell-type-specific neuronal activity from non-invasive measurements
    Philos Trans R Soc Lond B Biol Sci, 371 (1705)
    DOI 10.1098/rstb.2015.0356, PubMed 27574309
  81. Uhlirova H, Kılıç K, Tian P, Thunemann M, Desjardins M, Saisan PA, Sakadžić S, Ness TV, Mateo C, Cheng Q, Weldy KL, Razoux F, Vandenberghe M, Cremonesi JA, Ferri CG, Nizar K, Sridhar VB, Steed TC, Abashin M, Fainman Y, Masliah E, Djurovic S, Andreassen OA, Silva GA, Boas DA et al. (2016)
    Cell type specificity of neurovascular coupling in cerebral cortex
    Elife, 5
    DOI 10.7554/eLife.14315, PubMed 27244241
  82. Vigeland MD, Gjøtterud KS, Selmer KK (2016)
    FILTUS: a desktop GUI for fast and efficient detection of disease-causing variants, including a novel autozygosity detector
    Bioinformatics, 32 (10), 1592-4
    DOI 10.1093/bioinformatics/btw046, PubMed 26819469
  83. Wang Y, Bos SD, Harbo HF, Thompson WK, Schork AJ, Bettella F, Witoelar A, Lie BA, Li W, McEvoy LK, Djurovic S, Desikan RS, Dale AM, Andreassen OA (2016)
    Genetic overlap between multiple sclerosis and several cardiovascular disease risk factors
    Mult Scler, 22 (14), 1783-1793
    DOI 10.1177/1352458516635873, PubMed 26920376
  84. Wang Y, Thompson WK, Schork AJ, Holland D, Chen CH, Bettella F, Desikan RS, Li W, Witoelar A, Zuber V, Devor A, Bipolar Disorder and Schizophrenia Working Group of the Psychiatric Genomics Consortium, Enhancing Neuro Imaging Genetics through Meta Analysis Consortium, Nöthen MM, Rietschel M, Chen Q, Werge T, Cichon S, Weinberger DR, Djurovic S, O'Donovan M, Visscher PM, Andreassen OA, Dale AM (2016)
    Leveraging Genomic Annotations and Pleiotropic Enrichment for Improved Replication Rates in Schizophrenia GWAS
    PLoS Genet, 12 (1), e1005803
    DOI 10.1371/journal.pgen.1005803, PubMed 26808560
  85. Wang Z, Iida A, Miyake N, Nishiguchi KM, Fujita K, Nakazawa T, Alswaid A, Albalwi MA, Kim OH, Cho TJ, Lim GY, Isidor B, David A, Rustad CF, Merckoll E, Westvik J, Stattin EL, Grigelioniene G, Kou I, Nakajima M, Ohashi H, Smithson S, Matsumoto N, Nishimura G, Ikegawa S (2016)
    Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations
    PLoS One, 11 (3), e0150555
    DOI 10.1371/journal.pone.0150555, PubMed 26974433
  86. Wierød L, Cameron J, Strøm TB, Leren TP (2016)
    Studies of the autoinhibitory segment comprising residues 31-60 of the prodomain of PCSK9: Possible implications for the mechanism underlying gain-of-function mutations
    Mol Genet Metab Rep, 9, 86-93
    DOI 10.1016/j.ymgmr.2016.11.003, PubMed 27896130
  87. Wikenius E, Moe V, Kjellevold M, Smith L, Lyle R, Waagbø R, Page CM, Myhre AM (2016)
    The Association between Hair Cortisol and Self-Reported Symptoms of Depression in Pregnant Women
    PLoS One, 11 (9), e0161804
    DOI 10.1371/journal.pone.0161804, PubMed 27584584
  88. Yu H, Zhang VW, Stray-Pedersen A, Hanson IC, Forbes LR, de la Morena MT, Chinn IK, Gorman E, Mendelsohn NJ, Pozos T, Wiszniewski W, Nicholas SK, Yates AB, Moore LE, Berge KE, Sorte H, Bayer DK, ALZahrani D, Geha RS, Feng Y, Wang G, Orange JS, Lupski JR, Wang J, Wong LJ (2016)
    Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing
    J Allergy Clin Immunol, 138 (4), 1142-1151.e2
    DOI 10.1016/j.jaci.2016.05.035, PubMed 27484032
  89. Zook JM, Catoe D, McDaniel J, Vang L, Spies N, Sidow A, Weng Z, Liu Y, Mason CE, Alexander N, Henaff E, McIntyre AB, Chandramohan D, Chen F, Jaeger E, Moshrefi A, Pham K, Stedman W, Liang T, Saghbini M, Dzakula Z, Hastie A, Cao H, Deikus G, Schadt E et al. (2016)
    Extensive sequencing of seven human genomes to characterize benchmark reference materials
    Sci Data, 3, 160025
    DOI 10.1038/sdata.2016.25, PubMed 27271295

Publications 2015

  1. Abrahamsen BJ, Kulseth MA, Paus B (2015)
    A 19-year-old man with relapsing bilateral pneumothorax, hemoptysis, and intrapulmonary cavitary lesions diagnosed with vascular Ehlers-Danlos syndrome and a novel missense mutation in COL3A1
    Chest, 147 (5), e166-e170
    DOI 10.1378/chest.13-3002, PubMed 25940258
  2. Andreassen OA, Desikan RS, Wang Y, Thompson WK, Schork AJ, Zuber V, Doncheva NT, Ellinghaus E, Albrecht M, Mattingsdal M, Franke A, Lie BA, Mills IG, Aukrust P, McEvoy LK, Djurovic S, Karlsen TH, Dale AM (2015)
    Correction: Abundant Genetic Overlap between Blood Lipids and Immune-Mediated Diseases Indicates Shared Molecular Genetic Mechanisms
    PLoS One, 10 (5), e0128048
    DOI 10.1371/journal.pone.0128048, PubMed 25978331
  3. Andreassen OA, Thompson WK, Schork AJ, Ripke S, Mattingsdal M, Kelsoe JR, Kendler KS, O'Donovan MC, Rujescu D, Werge T, Sklar P, Psychiatric Genomics Consortium (PGC), Bipolar Disorder and Schizophrenia Working Groups, Roddey JC, Chen CH, McEvoy L, Desikan RS, Djurovic S, Dale AM (2015)
    Correction: Improved Detection of Common Variants Associated with Schizophrenia and Bipolar Disorder Using Pleiotropy-Informed Conditional False Discovery Rate
    PLoS Genet, 11 (11), e1005544
    DOI 10.1371/journal.pgen.1005544, PubMed 26540268
  4. Athanasiu L, Smorr LL, Tesli M, Røssberg JI, Sønderby IE, Spigset O, Djurovic S, Andreassen OA (2015)
    Genome-wide association study identifies common variants associated with pharmacokinetics of psychotropic drugs
    J Psychopharmacol, 29 (8), 884-91
    DOI 10.1177/0269881115584469, PubMed 25944848
  5. Barber JC, Rosenfeld JA, Graham JM, Kramer N, Lachlan KL, Bateman MS, Collinson MN, Stadheim BF, Turner CL, Gauthier JN, Reimschisel TE, Qureshi AM, Dabir TA, Humphreys MW, Marble M, Huang T, Beal SJ, Massiah J, Taylor EJ, Wynn SL (2015)
    Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance
    Am J Med Genet A, 167A (9), 2052-64
    DOI 10.1002/ajmg.a.37120, PubMed 26097203
  6. Barøy T, Koster J, Strømme P, Ebberink MS, Misceo D, Ferdinandusse S, Holmgren A, Hughes T, Merckoll E, Westvik J, Woldseth B, Walter J, Wood N, Tvedt B, Stadskleiv K, Wanders RJ, Waterham HR, Frengen E (2015)
    A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform
    Hum Mol Genet, 24 (20), 5845-54
    DOI 10.1093/hmg/ddv305, PubMed 26220973
  7. Borsting J, Culen AL, Eike MC (2015)
    DESIGN OF A REFERENCE HANDLING SYSTEM FOR CLINICAL DNA SEQUENCING ANALYSIS
    PROCEEDINGS OF THE INTERNATIONAL CONFERENCES ON E-HEALTH 2015 E-COMMERCE AND DIGITAL MARKETING 2015 AND INFORMATION SYSTEMS POST-IMPLEMENTATION AND CHANGE MANAGEMENT 2015, 79-87
  8. Broch K, Andreassen AK, Hopp E, Leren TP, Scott H, Müller F, Aakhus S, Gullestad L (2015)
    Results of comprehensive diagnostic work-up in 'idiopathic' dilated cardiomyopathy
    Open Heart, 2 (1), e000271
    DOI 10.1136/openhrt-2015-000271, PubMed 26468400
  9. Carlsen EØ, Frengen E, Fannemel M, Misceo D (2015)
    Haploinsufficiency of ANO6, NELL2 and DBX2 in a boy with intellectual disability and growth delay
    Am J Med Genet A, 167A (8), 1890-6
    DOI 10.1002/ajmg.a.37079, PubMed 25846056
  10. Chen CH, Peng Q, Schork AJ, Lo MT, Fan CC, Wang Y, Desikan RS, Bettella F, Hagler DJ, Pediatric Imaging, Neurocognition and Genetics Study, Alzheimer’s Disease Neuroimaging Initiative, Westlye LT, Kremen WS, Jernigan TL, Le Hellard S, Steen VM, Espeseth T, Huentelman M, Håberg AK, Agartz I, Djurovic S, Andreassen OA, Schork N, Dale AM, Pediatric Imaging Neurocognition and Genetics Study et al. (2015)
    Large-scale genomics unveil polygenic architecture of human cortical surface area
    Nat Commun, 6, 7549
    DOI 10.1038/ncomms8549, PubMed 26189703
  11. Chiaroni-Clarke RC, Li YR, Munro JE, Chavez RA, Scurrah KJ, Pezic A, Akikusa JD, Allen RC, Piper SE, Becker ML, Thompson SD, Lie BA, Flato B, Forre O, Punaro M, Wise C, Saffery R, Finkel TH, Hakonarson H, Ponsonby AL, Ellis JA (2015)
    The association of PTPN22 rs2476601 with juvenile idiopathic arthritis is specific to females
    Genes Immun, 16 (7), 495-8
    DOI 10.1038/gene.2015.32, PubMed 26291515
  12. Chollet ME, Skarpen E, Iversen N, Sandset PM, Skretting G (2015)
    The chemical chaperone sodium 4-phenylbutyrate improves the secretion of the protein CA267T mutant in CHO-K1 cells trough the GRASP55 pathway
    Cell Biosci, 5, 57
    DOI 10.1186/s13578-015-0048-4, PubMed 26457178
  13. Cortes A, Pulit SL, Leo PJ, Pointon JJ, Robinson PC, Weisman MH, Ward M, Gensler LS, Zhou X, Garchon HJ, Chiocchia G, Nossent J, Lie BA, Førre Ø, Tuomilehto J, Laiho K, Bradbury LA, Elewaut D, Burgos-Vargas R, Stebbings S, Appleton L, Farrah C, Lau J, Haroon N, Mulero J et al. (2015)
    Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1
    Nat Commun, 6, 7146
    DOI 10.1038/ncomms8146, PubMed 25994336
  14. Dahm AE, Tiscia G, Holmgren A, Jacobsen AF, Skretting G, Grandone E, Sandset PM (2015)
    Genetic variations in the annexin A5 gene and the risk of pregnancy-related venous thrombosis
    J Thromb Haemost, 13 (3), 409-13
    DOI 10.1111/jth.12817, PubMed 25495894
  15. Depner M, Fuchs S, Raabe J, Frede N, Glocker C, Doffinger R, Gkrania-Klotsas E, Kumararatne D, Atkinson TP, Schroeder HW, Niehues T, Dückers G, Stray-Pedersen A, Baumann U, Schmidt R, Franco JL, Orrego J, Ben-Shoshan M, McCusker C, Jacob CM, Carneiro-Sampaio M, Devlin LA, Edgar JD, Henderson P, Russell RK et al. (2015)
    The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1
    J Clin Immunol, 36 (1), 73-84
    DOI 10.1007/s10875-015-0214-9, PubMed 26604104
  16. Desikan RS, Schork AJ, Wang Y, Thompson WK, Dehghan A, Ridker PM, Chasman DI, McEvoy LK, Holland D, Chen CH, Karow DS, Brewer JB, Hess CP, Williams J, Sims R, O'Donovan MC, Choi SH, Bis JC, Ikram MA, Gudnason V, DeStefano AL, van der Lee SJ, Psaty BM, van Duijn CM, Launer L et al. (2015)
    Polygenic Overlap Between C-Reactive Protein, Plasma Lipids, and Alzheimer Disease
    Circulation, 131 (23), 2061-2069
    DOI 10.1161/CIRCULATIONAHA.115.015489, PubMed 25862742
  17. Dørum G, Kling D, Tillmar A, Vigeland MD, Egeland T (2015)
    Mixtures with relatives and linked markers
    Int J Legal Med, 130 (3), 621-34
    DOI 10.1007/s00414-015-1288-x, PubMed 26614310
  18. Fjaer R, Brodtkorb E, Øye AM, Sheng Y, Vigeland MD, Kvistad KA, Backe PH, Selmer KK (2015)
    Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2
    Eur J Med Genet, 58 (11), 624-8
    DOI 10.1016/j.ejmg.2015.10.005, PubMed 26475232
  19. Goulart LF, Bettella F, Sønderby IE, Schork AJ, Thompson WK, Mattingsdal M, Steen VM, Zuber V, Wang Y, Dale AM, PRACTICAL/ELLIPSE consortium, Andreassen OA, Djurovic S (2015)
    MicroRNAs enrichment in GWAS of complex human phenotypes
    BMC Genomics, 16, 304
    DOI 10.1186/s12864-015-1513-5, PubMed 25884492
  20. Gronwald J, Glass K, Rosen B, Karlan B, Tung N, Neuhausen SL, Moller P, Ainsworth P, Sun P, Narod SA, Lubinski J, Kotsopoulos J, Hereditary Breast Cancer Clinical Study Group (2015)
    Treatment of infertility does not increase the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation
    Fertil Steril, 105 (3), 781-785
    DOI 10.1016/j.fertnstert.2015.11.034, PubMed 26698676
  21. Han N, Adams J, Fang W, Liu SQ, Rayner S (2015)
    Investigation of the genotype III to genotype I shift in Japanese encephalitis virus and the impact on human cases
    Virol Sin, 30 (4), 277-89
    DOI 10.1007/s12250-015-3621-4, PubMed 26311492
  22. Haram M, Tesli M, Bettella F, Djurovic S, Andreassen OA, Melle I (2015)
    Association between Genetic Variation in the Oxytocin Receptor Gene and Emotional Withdrawal, but not between Oxytocin Pathway Genes and Diagnosis in Psychotic Disorders
    Front Hum Neurosci, 9, 9
    DOI 10.3389/fnhum.2015.00009, PubMed 25667571
  23. Hassani S, Lindman AS, Kristoffersen DT, Tomic O, Helgeland J (2015)
    30-Day Survival Probabilities as a Quality Indicator for Norwegian Hospitals: Data Management and Analysis
    PLoS One, 10 (9), e0136547
    DOI 10.1371/journal.pone.0136547, PubMed 26352600
  24. Heimdal K, Dalhus B, Rødningen OK, Kroken M, Eiklid K, Dheyauldeen S, Røysland T, Andersen R, Kulseth MA (2015)
    Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1
    Clin Genet, 89 (2), 182-6
    DOI 10.1111/cge.12612, PubMed 25970827
  25. Heramb C, Ekstrøm PO, Tharmaratnam K, Hovig E, Møller P, Mæhle L (2015)
    Ten modifiers of BRCA1 penetrance validated in a Norwegian series
    Hered Cancer Clin Pract, 13 (1), 14
    DOI 10.1186/s13053-015-0035-0, PubMed 26052370
  26. Hibar DP, Stein JL, Renteria ME, Arias-Vasquez A, Desrivières S, Jahanshad N, Toro R, Wittfeld K, Abramovic L, Andersson M, Aribisala BS, Armstrong NJ, Bernard M, Bohlken MM, Boks MP, Bralten J, Brown AA, Chakravarty MM, Chen Q, Ching CR, Cuellar-Partida G, den Braber A, Giddaluru S, Goldman AL, Grimm O et al. (2015)
    Common genetic variants influence human subcortical brain structures
    Nature, 520 (7546), 224-9
    DOI 10.1038/nature14101, PubMed 25607358
  27. Hoeffding LK, Duong LT, Ingason A, Rosengren A, Sorbanski E, Witt SH, Djurovic S, Andreassen OA, Hansen T, Werge T, Rasmussen HB (2015)
    Identification of rare high-risk copy number variants affecting the dopamine transporter gene in mental disorders
    Nord J Psychiatry, 70 (4), 276-9
    DOI 10.3109/08039488.2015.1095944, PubMed 26559242
  28. Hopkins PN, Defesche J, Fouchier SW, Bruckert E, Luc G, Cariou B, Sjouke B, Leren TP, Harada-Shiba M, Mabuchi H, Rabès JP, Carrié A, van Heyningen C, Carreau V, Farnier M, Teoh YP, Bourbon M, Kawashiri MA, Nohara A, Soran H, Marais AD, Tada H, Abifadel M, Boileau C, Chanu B et al. (2015)
    Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody
    Circ Cardiovasc Genet, 8 (6), 823-31
    DOI 10.1161/CIRCGENETICS.115.001129, PubMed 26374825
  29. Horn D, Prescott T, Houge G, Brække K, Rosendahl K, Nishimura G, FitzPatrick DR, Spranger J (2015)
    A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation
    Eur J Med Genet, 58 (8), 387-91
    DOI 10.1016/j.ejmg.2015.06.003, PubMed 26116559
  30. Horn MA, Mikaelsen KB, Ferdinandusse S, Jørum E, Mellgren SI, Retterstøl L, Wanders RJ, Tallaksen CM (2015)
    Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report
    Clin Case Rep, 4 (2), 177-81
    DOI 10.1002/ccr3.434, PubMed 26862418
  31. Hov JR, Zhong H, Qin B, Anmarkrud JA, Holm K, Franke A, Lie BA, Karlsen TH (2015)
    The Influence of the Autoimmunity-Associated Ancestral HLA Haplotype AH8.1 on the Human Gut Microbiota: A Cross-Sectional Study
    PLoS One, 10 (7), e0133804
    DOI 10.1371/journal.pone.0133804, PubMed 26207384
  32. Howrigan DP, Simonson MA, Davies G, Harris SE, Tenesa A, Starr JM, Liewald DC, Deary IJ, McRae A, Wright MJ, Montgomery GW, Hansell N, Martin NG, Payton A, Horan M, Ollier WE, Abdellaoui A, Boomsma DI, DeRosse P, Knowles EE, Glahn DC, Djurovic S, Melle I, Andreassen OA, Christoforou A et al. (2015)
    Genome-wide autozygosity is associated with lower general cognitive ability
    Mol Psychiatry, 21 (6), 837-43
    DOI 10.1038/mp.2015.120, PubMed 26390830
  33. Hughes T, Hansson L, Sønderby IE, Athanasiu L, Zuber V, Tesli M, Song J, Hultman CM, Bergen SE, Landén M, Melle I, Andreassen OA, Djurovic S (2015)
    A Loss-of-Function Variant in a Minor Isoform of ANK3 Protects Against Bipolar Disorder and Schizophrenia
    Biol Psychiatry, 80 (4), 323-330
    DOI 10.1016/j.biopsych.2015.09.021, PubMed 26682468
  34. Johansson MM, Van Geystelen A, Larmuseau MH, Djurovic S, Andreassen OA, Agartz I, Jazin E (2015)
    Microarray Analysis of Copy Number Variants on the Human Y Chromosome Reveals Novel and Frequent Duplications Overrepresented in Specific Haplogroups
    PLoS One, 10 (8), e0137223
    DOI 10.1371/journal.pone.0137223, PubMed 26322892
  35. Johnsrud I, Kulseth MA, Rødningen OK, Landrø L, Helsing P, Waage Nielsen E, Heimdal K (2015)
    Correction: A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1
    PLoS One, 10 (8), e0136011
    DOI 10.1371/journal.pone.0136011, PubMed 26270546
  36. Johnsrud I, Kulseth MA, Rødningen OK, Landrø L, Helsing P, Waage Nielsen E, Heimdal K (2015)
    A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1
    PLoS One, 10 (7), e0131637
    DOI 10.1371/journal.pone.0131637, PubMed 26154504
  37. Lee SH, Byrne EM, Hultman CM, Kähler A, Vinkhuyzen AA, Ripke S, Andreassen OA, Frisell T, Gusev A, Hu X, Karlsson R, Mantzioris VX, McGrath JJ, Mehta D, Stahl EA, Zhao Q, Kendler KS, Sullivan PF, Price AL, O'Donovan M, Okada Y, Mowry BJ, Raychaudhuri S, Wray NR, Schizophrenia Working Group of the Psychiatric Genomics Consortium and Rheumatoid Arthritis Consortium International et al. (2015)
    New data and an old puzzle: the negative association between schizophrenia and rheumatoid arthritis
    Int J Epidemiol, 44 (5), 1706-21
    DOI 10.1093/ije/dyv136, PubMed 26286434
  38. Lekva T, Berg JP, Lyle R, Heck A, Bollerslev J, Ueland T (2015)
    Alternative splicing of placental lactogen (CSH2) in somatotroph pituitary adenomas
    Neuro Endocrinol Lett, 36 (2), 136-42
    PubMed 26071582
  39. Liaskou E, Klemsdal Henriksen EK, Holm K, Kaveh F, Hamm D, Fear J, Viken MK, Hov JR, Melum E, Robins H, Olweus J, Karlsen TH, Hirschfield GM (2015)
    High-throughput T-cell receptor sequencing across chronic liver diseases reveals distinct disease-associated repertoires
    Hepatology, 63 (5), 1608-19
    DOI 10.1002/hep.28116, PubMed 26257205
  40. Magnussen GI, Emilsen E, Giller Fleten K, Engesæter B, Nähse-Kumpf V, Fjær R, Slipicevic A, Flørenes VA (2015)
    Combined inhibition of the cell cycle related proteins Wee1 and Chk1/2 induces synergistic anti-cancer effect in melanoma
    BMC Cancer, 15, 462
    DOI 10.1186/s12885-015-1474-8, PubMed 26054341
  41. McMaster ML, Heimdal KR, Loud JT, Bracci JS, Rosenberg PS, Greene MH (2015)
    Nontesticular cancers in relatives of testicular germ cell tumor (TGCT) patients from multiple-case TGCT families
    Cancer Med, 4 (7), 1069-78
    DOI 10.1002/cam4.450, PubMed 25882629
  42. Mellerup E, Andreassen OA, Bennike B, Dam H, Djurovic S, Hansen T, Jorgensen MB, Kessing LV, Koefoed P, Melle I, Mors O, Werge T, Moeller GL (2015)
    Combinations of Genetic Data Present in Bipolar Patients, but Absent in Control Persons
    PLoS One, 10 (11), e0143432
    DOI 10.1371/journal.pone.0143432, PubMed 26587987
  43. Møller P, Seppälä T, Bernstein I, Holinski-Feder E, Sala P, Evans DG, Lindblom A, Macrae F, Blanco I, Sijmons R, Jeffries J, Vasen H, Burn J, Nakken S, Hovig E, Rødland EA, Tharmaratnam K, de Vos Tot Nederveen Cappel WH, Hill J, Wijnen J, Green K, Lalloo F, Sunde L, Mints M, Bertario L et al. (2015)
    Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database
    Gut, 66 (3), 464-472
    DOI 10.1136/gutjnl-2015-309675, PubMed 26657901
  44. Møller P, Tharmaratnam K, Howell A, Stavrinos P, Sampson S, Wallace A, Maxwell AJ, Hagen AI, Evans DG (2015)
    Tumour characteristics and survival in familial breast cancer prospectively diagnosed by annual mammography
    Breast Cancer Res Treat, 152 (1), 87-94
    DOI 10.1007/s10549-015-3448-6, PubMed 26037256
  45. Network and Pathway Analysis Subgroup of Psychiatric Genomics Consortium (2015)
    Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways
    Nat Neurosci, 18 (2), 199-209
    DOI 10.1038/nn.3922, PubMed 25599223
  46. Nordstrøm M, Paus B, Andersen LF, Kolset SO (2015)
    Dietary aspects related to health and obesity in Williams syndrome, Down syndrome, and Prader-Willi syndrome
    Food Nutr Res, 59, 25487
    DOI 10.3402/fnr.v59.25487, PubMed 25653019
  47. Ollikainen M, Ismail K, Gervin K, Kyllönen A, Hakkarainen A, Lundbom J, Järvinen EA, Harris JR, Lundbom N, Rissanen A, Lyle R, Pietiläinen KH, Kaprio J (2015)
    Genome-wide blood DNA methylation alterations at regulatory elements and heterochromatic regions in monozygotic twins discordant for obesity and liver fat
    Clin Epigenetics, 7, 39
    DOI 10.1186/s13148-015-0073-5, PubMed 25866590
  48. Omair A, Mannion AF, Holden M, Fairbank J, Lie BA, Hägg O, Fritzell P, Brox JI (2015)
    Catechol-O-methyltransferase (COMT) gene polymorphisms are associated with baseline disability but not long-term treatment outcome in patients with chronic low back pain
    Eur Spine J, 24 (11), 2425-31
    DOI 10.1007/s00586-015-3866-5, PubMed 25772090
  49. Pedurupillay CR, Barøy T, Holmgren A, Blomhoff A, Vigeland MD, Sheng Y, Frengen E, Strømme P, Misceo D (2015)
    Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B
    Am J Med Genet A, 167A (3), 657-63
    DOI 10.1002/ajmg.a.36944, PubMed 25691420
  50. Pietiläinen KH, Ismail K, Järvinen E, Heinonen S, Tummers M, Bollepalli S, Lyle R, Muniandy M, Moilanen E, Hakkarainen A, Lundbom J, Lundbom N, Rissanen A, Kaprio J, Ollikainen M (2015)
    DNA methylation and gene expression patterns in adipose tissue differ significantly within young adult monozygotic BMI-discordant twin pairs
    Int J Obes (Lond), 40 (4), 654-61
    DOI 10.1038/ijo.2015.221, PubMed 26499446
  51. Rasmussen HB, Bjerre D, Linnet K, Jürgens G, Dalhoff K, Stefansson H, Hankemeier T, Kaddurah-Daouk R, Taboureau O, Brunak S, Houmann T, Jeppesen P, Pagsberg AK, Plessen K, Dyrborg J, Hansen PR, Hansen PE, Hughes T, Werge T, INDICES Consortium (2015)
    Individualization of treatments with drugs metabolized by CES1: combining genetics and metabolomics
    Pharmacogenomics, 16 (6), 649-65
    DOI 10.2217/pgs.15.7, PubMed 25896426
  52. Reppe S, Noer A, Grimholt RM, Halldórsson BV, Medina-Gomez C, Gautvik VT, Olstad OK, Berg JP, Datta H, Estrada K, Hofman A, Uitterlinden AG, Rivadeneira F, Lyle R, Collas P, Gautvik KM (2015)
    Methylation of bone SOST, its mRNA, and serum sclerostin levels correlate strongly with fracture risk in postmenopausal women
    J Bone Miner Res, 30 (2), 249-56
    DOI 10.1002/jbmr.2342, PubMed 25155887
  53. Robinson PC, Costello ME, Leo P, Bradbury LA, Hollis K, Cortes A, Lee S, Joo KB, Shim SC, Weisman M, Ward M, Zhou X, Garchon HJ, Chiocchia G, Nossent J, Lie BA, Førre Ø, Tuomilehto J, Laiho K, Jiang L, Liu Y, Wu X, Elewaut D, Burgos-Vargas R, Gensler LS et al. (2015)
    ERAP2 is associated with ankylosing spondylitis in HLA-B27-positive and HLA-B27-negative patients
    Ann Rheum Dis, 74 (8), 1627-9
    DOI 10.1136/annrheumdis-2015-207416, PubMed 25917849
  54. Rohlin A, Eiengård F, Lundstam U, Zagoras T, Nilsson S, Edsjö A, Pedersen J, Svensson J, Skullman S, Karlsson BG, Björk J, Nordling M (2015)
    GREM1 and POLE variants in hereditary colorectal cancer syndromes
    Genes Chromosomes Cancer, 55 (1), 95-106
    DOI 10.1002/gcc.22314, PubMed 26493165
  55. Rounge TB, Lauritzen M, Langseth H, Enerly E, Lyle R, Gislefoss RE (2015)
    microRNA Biomarker Discovery and High-Throughput DNA Sequencing Are Possible Using Long-term Archived Serum Samples
    Cancer Epidemiol Biomarkers Prev, 24 (9), 1381-7
    DOI 10.1158/1055-9965.EPI-15-0289, PubMed 26108462
  56. Segev Y, Rosen B, Lubinski J, Gronwald J, Lynch HT, Moller P, Kim-Sing C, Ghadirian P, Karlan B, Eng C, Gilchrist D, Neuhausen SL, Eisen A, Friedman E, Euhus D, Ping S, Narod SA, Hereditary Breast Cancer Study Group (2015)
    Risk factors for endometrial cancer among women with a BRCA1 or BRCA2 mutation: a case control study
    Fam Cancer, 14 (3), 383-91
    DOI 10.1007/s10689-015-9798-8, PubMed 25838159
  57. Seldin MF, Alkhairy OK, Lee AT, Lamb JA, Sussman J, Pirskanen-Matell R, Piehl F, Verschuuren JJGM, Kostera-Pruszczyk A, Szczudlik P, McKee D, Maniaol AH, Harbo HF, Lie BA, Melms A, Garchon HJ, Willcox N, Gregersen PK, Hammarstrom L (2015)
    Genome-Wide Association Study of Late-Onset Myasthenia Gravis: Confirmation of TNFRSF11A and Identification of ZBTB10 and Three Distinct HLA Associations
    Mol Med, 21 (1), 769-781
    DOI 10.2119/molmed.2015.00232, PubMed 26562150
  58. Srinivasan S, Bettella F, Mattingsdal M, Wang Y, Witoelar A, Schork AJ, Thompson WK, Zuber V, Schizophrenia Working Group of the Psychiatric Genomics Consortium, The International Headache Genetics Consortium, Winsvold BS, Zwart JA, Collier DA, Desikan RS, Melle I, Werge T, Dale AM, Djurovic S, Andreassen OA (2015)
    Genetic Markers of Human Evolution Are Enriched in Schizophrenia
    Biol Psychiatry, 80 (4), 284-292
    DOI 10.1016/j.biopsych.2015.10.009, PubMed 26681495
  59. Steinberg S, Stefansson H, Jonsson T, Johannsdottir H, Ingason A, Helgason H, Sulem P, Magnusson OT, Gudjonsson SA, Unnsteinsdottir U, Kong A, Helisalmi S, Soininen H, Lah JJ, DemGene, Aarsland D, Fladby T, Ulstein ID, Djurovic S, Sando SB, White LR, Knudsen GP, Westlye LT, Selbæk G, Giegling I et al. (2015)
    Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease
    Nat Genet, 47 (5), 445-7
    DOI 10.1038/ng.3246, PubMed 25807283
  60. Stray-Pedersen A, Cobben JM, Prescott TE, Lee S, Cang C, Aranda K, Ahmed S, Alders M, Gerstner T, Aslaksen K, Tétreault M, Qin W, Hartley T, Jhangiani SN, Muzny DM, Tarailo-Graovac M, van Karnebeek CD, Care4Rare Canada Consortium, Baylor-Hopkins Center for Mendelian Genomics, Lupski JR, Ren D, Yoon G (2015)
    Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability
    Am J Hum Genet, 98 (1), 202-9
    DOI 10.1016/j.ajhg.2015.11.004, PubMed 26708751
  61. Suerink M, van der Klift HM, Ten Broeke SW, Dekkers OM, Bernstein I, Capellá Munar G, Gomez Garcia E, Hoogerbrugge N, Letteboer TG, Menko FH, Lindblom A, Mensenkamp A, Moller P, van Os TA, Rahner N, Redeker BJ, Olderode-Berends MJ, Spruijt L, Vos YJ, Wagner A, Morreau H, Hes FJ, Vasen HF, Tops CM, Wijnen JT et al. (2015)
    The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers
    Genet Med, 18 (4), 405-9
    DOI 10.1038/gim.2015.83, PubMed 26110232
  62. Sukalo M, Tilsen F, Kayserili H, Müller D, Tüysüz B, Ruddy DM, Wakeling E, Ørstavik KH, Bramswig NC, Snape KM, Trembath R, De Smedt M, van der Aa N, Skalej M, Mundlos S, Wuyts W, Southgate L, Zenker M (2015)
    DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies
    Hum Mutat, 36 (11), 1112
    DOI 10.1002/humu.22830, PubMed 26457590
  63. Tesli M, Kauppi K, Bettella F, Brandt CL, Kaufmann T, Espeseth T, Mattingsdal M, Agartz I, Melle I, Djurovic S, Westlye LT, Andreassen OA (2015)
    Altered Brain Activation during Emotional Face Processing in Relation to Both Diagnosis and Polygenic Risk of Bipolar Disorder
    PLoS One, 10 (7), e0134202
    DOI 10.1371/journal.pone.0134202, PubMed 26222050
  64. Tinholt M, Stavik B, Louch W, Carlson CR, Sletten M, Ruf W, Skretting G, Sandset PM, Iversen N (2015)
    Syndecan-3 and TFPI colocalize on the surface of endothelial-, smooth muscle-, and cancer cells
    PLoS One, 10 (1), e0117404
    DOI 10.1371/journal.pone.0117404, PubMed 25617766
  65. Tinholt M, Vollan HK, Sahlberg KK, Jernström S, Kaveh F, Lingjærde OC, Kåresen R, Sauer T, Kristensen V, Børresen-Dale AL, Sandset PM, Iversen N (2015)
    Tumor expression, plasma levels and genetic polymorphisms of the coagulation inhibitor TFPI are associated with clinicopathological parameters and survival in breast cancer, in contrast to the coagulation initiator TF
    Breast Cancer Res, 17, 44
    DOI 10.1186/s13058-015-0548-5, PubMed 25882602
  66. Tjeldhorn L, Amundsen SS, Barøy T, Rand-Hendriksen S, Geiran O, Frengen E, Paus B (2015)
    Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome
    BMC Med Genet, 16, 113
    DOI 10.1186/s12881-015-0260-4, PubMed 26684006
  67. Trampush JW, Lencz T, Knowles E, Davies G, Guha S, Pe'er I, Liewald DC, Starr JM, Djurovic S, Melle I, Sundet K, Christoforou A, Reinvang I, Mukherjee S, DeRosse P, Lundervold A, Steen VM, John M, Espeseth T, Räikkönen K, Widen E, Palotie A, Eriksson JG, Giegling I, Konte B et al. (2015)
    Independent evidence for an association between general cognitive ability and a genetic locus for educational attainment
    Am J Med Genet B Neuropsychiatr Genet, 168B (5), 363-73
    DOI 10.1002/ajmg.b.32319, PubMed 25951819
  68. Tricarico R, Cortellino S, Riccio A, Jagmohan-Changur S, Van der Klift H, Wijnen J, Turner D, Ventura A, Rovella V, Percesepe A, Lucci-Cordisco E, Radice P, Bertario L, Pedroni M, Ponz de Leon M, Mancuso P, Devarajan K, Cai KQ, Klein-Szanto AJ, Neri G, Møller P, Viel A, Genuardi M, Fodde R, Bellacosa A (2015)
    Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis
    Oncotarget, 6 (40), 42892-904
    DOI 10.18632/oncotarget.5740, PubMed 26503472
  69. Tønne E, Holdhus R, Stansberg C, Stray-Pedersen A, Petersen K, Brunner HG, Gilissen C, Hoischen A, Prescott T, Steen VM, Fiskerstrand T (2015)
    Syndromic X-linked intellectual disability segregating with a missense variant in RLIM
    Eur J Hum Genet, 23 (12), 1652-6
    DOI 10.1038/ejhg.2015.30, PubMed 25735484
  70. Undlien D, Lunde C (2015)
    [In Process Citation]
    Tidsskr Nor Laegeforen, 135 (19), 1728-30
    DOI 10.4045/tidsskr.15.0968, PubMed 26486666
  71. Wedding IM, Kroken M, Henriksen SP, Selmer KK, Fiskerstrand T, Knappskog PM, Berge T, Tallaksen CM (2015)
    Friedreich ataxia in Norway - an epidemiological, molecular and clinical study
    Orphanet J Rare Dis, 10, 108
    DOI 10.1186/s13023-015-0328-4, PubMed 26338206
  72. Willemsen G, Ward KJ, Bell CG, Christensen K, Bowden J, Dalgård C, Harris JR, Kaprio J, Lyle R, Magnusson PK, Mather KA, Ordoňana JR, Perez-Riquelme F, Pedersen NL, Pietiläinen KH, Sachdev PS, Boomsma DI, Spector T (2015)
    The Concordance and Heritability of Type 2 Diabetes in 34,166 Twin Pairs From International Twin Registers: The Discordant Twin (DISCOTWIN) Consortium
    Twin Res Hum Genet, 18 (6), 762-71
    DOI 10.1017/thg.2015.83, PubMed 26678054
  73. Wolff AS, Mitchell AL, Cordell HJ, Short A, Skinningsrud B, Ollier W, Badenhoop K, Meyer G, Falorni A, Kampe O, Undlien D, Pearce SH, Husebye ES (2015)
    CTLA-4 as a genetic determinant in autoimmune Addison's disease
    Genes Immun, 16 (6), 430-6
    DOI 10.1038/gene.2015.27, PubMed 26204230
  74. Zayats T, Athanasiu L, Sonderby I, Djurovic S, Westlye LT, Tamnes CK, Fladby T, Aase H, Zeiner P, Reichborn-Kjennerud T, Knappskog PM, Knudsen GP, Andreassen OA, Johansson S, Haavik J (2015)
    Genome-wide analysis of attention deficit hyperactivity disorder in Norway
    PLoS One, 10 (4), e0122501
    DOI 10.1371/journal.pone.0122501, PubMed 25875332
  75. Ørstavik KH (2015)
    [Mary Lyon and the hypothesis on X-chromosome inactivation]
    Tidsskr Nor Laegeforen, 135 (12-13), 1150-1
    DOI 10.4045/tidsskr.15.0512, PubMed 26130551

Publications 2014

  1. Ali HO, Stavik B, Dørum E, Iversen N, Sandset PM, Skretting G (2014)
    Oestrogen induced downregulation of TFPI expression is mediated by ERα
    Thromb Res, 134 (1), 138-43
    DOI 10.1016/j.thromres.2014.04.004, PubMed 24785473
  2. Amundsen SS, Viken MK, Sollid LM, Lie BA (2014)
    Coeliac disease-associated polymorphisms influence thymic gene expression
    Genes Immun, 15 (6), 355-60
    DOI 10.1038/gene.2014.26, PubMed 24871462
  3. Andreassen OA, Harbo HF, Wang Y, Thompson WK, Schork AJ, Mattingsdal M, Zuber V, Bettella F, Ripke S, Kelsoe JR, Kendler KS, O'Donovan MC, Sklar P, Psychiatric Genomics Consortium (PGC) Bipolar Disorder and Schizophrenia Work Groups, International Multiple Sclerosis Genetics Consortium (IMSGC), McEvoy LK, Desikan RS, Lie BA, Djurovic S, Dale AM (2014)
    Genetic pleiotropy between multiple sclerosis and schizophrenia but not bipolar disorder: differential involvement of immune-related gene loci
    Mol Psychiatry, 20 (2), 207-14
    DOI 10.1038/mp.2013.195, PubMed 24468824
  4. Andreassen OA, Zuber V, Thompson WK, Schork AJ, Bettella F, PRACTICAL Consortium, CRUK GWAS, Djurovic S, Desikan RS, Mills IG, Dale AM (2014)
    Shared common variants in prostate cancer and blood lipids
    Int J Epidemiol, 43 (4), 1205-14
    DOI 10.1093/ije/dyu090, PubMed 24786909
  5. Apelland T, Gude E, Strøm EH, Gullestad L, Eiklid KL, Månsson JE, Reinholt FP, Houge G, Dahl CP, Almaas VM, Heiberg A (2014)
    Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease
    Heart, 100 (22), 1793-8
    DOI 10.1136/heartjnl-2014-305616, PubMed 25031264
  6. Askautrud HA, Gjernes E, Gunnes G, Sletten M, Ross DT, Børresen-Dale AL, Iversen N, Tranulis MA, Frengen E (2014)
    Global gene expression analysis reveals a link between NDRG1 and vesicle transport
    PLoS One, 9 (1), e87268
    DOI 10.1371/journal.pone.0087268, PubMed 24498060
  7. Avidan N, Le Panse R, Harbo HF, Bernasconi P, Poulas K, Ginzburg E, Cavalcante P, Colleoni L, Baggi F, Antozzi C, Truffault F, Horn-Saban S, Pöschel S, Zagoriti Z, Maniaol A, Lie BA, Bernard I, Saoudi A, Illes Z, Casasnovas Pons C, Melms A, Tzartos S, Willcox N, Kostera-Pruszczyk A, Tallaksen C et al. (2014)
    VAV1 and BAFF, via NFκB pathway, are genetic risk factors for myasthenia gravis
    Ann Clin Transl Neurol, 1 (5), 329-39
    DOI 10.1002/acn3.51, PubMed 25356403
  8. Bancroft EK, Page EC, Castro E, Lilja H, Vickers A, Sjoberg D, Assel M, Foster CS, Mitchell G, Drew K, Mæhle L, Axcrona K, Evans DG, Bulman B, Eccles D, McBride D, van Asperen C, Vasen H, Kiemeney LA, Ringelberg J, Cybulski C, Wokolorczyk D, Selkirk C, Hulick PJ, Bojesen A et al. (2014)
    Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study
    Eur Urol, 66 (3), 489-99
    DOI 10.1016/j.eururo.2014.01.003, PubMed 24484606
  9. Bartholdi D, Stray-Pedersen A, Azzarello-Burri S, Kibaek M, Kirchhoff M, Oneda B, Rødningen O, Schmitt-Mechelke T, Rauch A, Kjaergaard S (2014)
    A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes
    Am J Med Genet A, 164A (5), 1277-83
    DOI 10.1002/ajmg.a.36439, PubMed 24664804
  10. Bayer DK, Martinez CA, Sorte HS, Forbes LR, Demmler-Harrison GJ, Hanson IC, Pearson NM, Noroski LM, Zaki SR, Bellini WJ, Leduc MS, Yang Y, Eng CM, Patel A, Rodningen OK, Muzny DM, Gibbs RA, Campbell IM, Shaw CA, Baker MW, Zhang V, Lupski JR, Orange JS, Seeborg FO, Stray-Pedersen A (2014)
    Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray
    Clin Exp Immunol, 178 (3), 459-69
    DOI 10.1111/cei.12421, PubMed 25046553
  11. Belengeanu V, Gamage TH, Farcas S, Stoian M, Andreescu N, Belengeanu A, Frengen E, Misceo D (2014)
    A de novo 2.3 Mb deletion in 2q24.2q24.3 in a 20-month-old developmentally delayed girl
    Gene, 539 (1), 168-72
    DOI 10.1016/j.gene.2014.01.060, PubMed 24508274
  12. Berge KE, Retterstøl K, Romeo S, Pirazzi C, Leren TP (2014)
    Type 1 hyperlipoproteinemia due to a novel deletion of exons 3 and 4 in the GPIHBP1 gene
    Atherosclerosis, 234 (1), 30-3
    DOI 10.1016/j.atherosclerosis.2014.02.005, PubMed 24589565
  13. Brønstad I, Skinningsrud B, Bratland E, Løvås K, Undlien D, Sverre Husebye E, Wolff AS (2014)
    CYP21A2 polymorphisms in patients with autoimmune Addison's disease, and linkage disequilibrium to HLA risk alleles
    Eur J Endocrinol, 171 (6), 743-50
    DOI 10.1530/EJE-14-0432, PubMed 25249698
  14. Cameron J (2014)
    New dentist spotlight: Dr. Jamie Cameron
    J Okla Dent Assoc, 105 (1), 27
    PubMed 24624747
  15. Christiansen M, Hedley PL, Theilade J, Stoevring B, Leren TP, Eschen O, Sørensen KM, Tybjærg-Hansen A, Ousager LB, Pedersen LN, Frikke-Schmidt R, Aidt FH, Hansen MG, Hansen J, Bloch Thomsen PE, Toft E, Henriksen FL, Bundgaard H, Jensen HK, Kanters JK (2014)
    Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2
    BMC Med Genet, 15, 31
    DOI 10.1186/1471-2350-15-31, PubMed 24606995
  16. Dieset I, Haukvik UK, Melle I, Røssberg JI, Ueland T, Hope S, Dale AM, Djurovic S, Aukrust P, Agartz I, Andreassen OA (2014)
    Association between altered brain morphology and elevated peripheral endothelial markers--implications for psychotic disorders
    Schizophr Res, 161 (2-3), 222-8
    DOI 10.1016/j.schres.2014.11.006, PubMed 25433965
  17. Drolsum L, Rand-Hendriksen S, Paus B, Geiran OR, Semb SO (2014)
    Ocular findings in 87 adults with Ghent-1 verified Marfan syndrome
    Acta Ophthalmol, 93 (1), 46-53
    DOI 10.1111/aos.12448, PubMed 24853997
  18. Egeland T, Dørum G, Vigeland MD, Sheehan NA (2014)
    Mixtures with relatives: a pedigree perspective
    Forensic Sci Int Genet, 10, 49-54
    DOI 10.1016/j.fsigen.2014.01.007, PubMed 24572837
  19. Fagerlund A, Myrset AH, Kulseth MA (2014)
    Construction of a filamentous phage display peptide library
    Methods Mol Biol, 1088, 19-33
    DOI 10.1007/978-1-62703-673-3_2, PubMed 24146394
  20. Fannemel M, Barøy T, Holmgren A, Rødningen OK, Haugsand TM, Hansen B, Frengen E, Misceo D (2014)
    Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms
    Eur J Med Genet, 57 (9), 513-9
    DOI 10.1016/j.ejmg.2014.05.008, PubMed 24911659
  21. Flåm ST, Gunnarsson R, Garen T, Norwegian MCTD Study Group, Lie BA, Molberg Ø (2014)
    The HLA profiles of mixed connective tissue disease differ distinctly from the profiles of clinically related connective tissue diseases
    Rheumatology (Oxford), 54 (3), 528-35
    DOI 10.1093/rheumatology/keu310, PubMed 25187641
  22. Geirdal AØ, Lund-Petersen I, Heiberg A (2014)
    Understanding the experience of myotonic dystrophy. Mixed method study
    J Genet Couns, 24 (1), 169-78
    DOI 10.1007/s10897-014-9752-1, PubMed 25123360
  23. Giannakeas V, Lubinski J, Gronwald J, Moller P, Armel S, Lynch HT, Foulkes WD, Kim-Sing C, Singer C, Neuhausen SL, Friedman E, Tung N, Senter L, Sun P, Narod SA (2014)
    Mammography screening and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers: a prospective study
    Breast Cancer Res Treat, 147 (1), 113-8
    DOI 10.1007/s10549-014-3063-y, PubMed 25082516
  24. Grindedal EM, Aarset H, Bjørnevoll I, Røyset E, Mæhle L, Stormorken A, Heramb C, Medvik H, Møller P, Sjursen W (2014)
    The Norwegian PMS2 founder mutation c.989-1G > T shows high penetrance of microsatellite instable cancers with normal immunohistochemistry
    Hered Cancer Clin Pract, 12 (1), 12
    DOI 10.1186/1897-4287-12-12, PubMed 24790682
  25. Gronwald J, Robidoux A, Kim-Sing C, Tung N, Lynch HT, Foulkes WD, Manoukian S, Ainsworth P, Neuhausen SL, Demsky R, Eisen A, Singer CF, Saal H, Senter L, Eng C, Weitzel J, Moller P, Gilchrist DM, Olopade O, Ginsburg O, Sun P, Huzarski T, Lubinski J, Narod SA, Hereditary Breast Cancer Clinical Study Group (2014)
    Duration of tamoxifen use and the risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers
    Breast Cancer Res Treat, 146 (2), 421-7
    DOI 10.1007/s10549-014-3026-3, PubMed 24951267
  26. Gustavsen MW, Celius EG, Moen SM, Bjølgerud A, Berg-Hansen P, Nygaard GO, Sandvik L, Lie BA, Harbo HF (2014)
    No association between multiple sclerosis and periodontitis after adjusting for smoking habits
    Eur J Neurol, 22 (3), 588-90
    DOI 10.1111/ene.12520, PubMed 25041906
  27. Gustavsen MW, Page CM, Moen SM, Bjølgerud A, Berg-Hansen P, Nygaard GO, Sandvik L, Lie BA, Celius EG, Harbo HF (2014)
    Environmental exposures and the risk of multiple sclerosis investigated in a Norwegian case-control study
    BMC Neurol, 14, 196
    DOI 10.1186/s12883-014-0196-x, PubMed 25274070
  28. Gustavsen MW, Viken MK, Celius EG, Berge T, Mero IL, Berg-Hansen P, Aarseth JH, Myhr KM, Søndergaard HB, Sellebjerg F, Oturai AB, Hillert J, Alfredsson L, Olsson T, Kockum I, Lie BA, Harbo HF (2014)
    Oligoclonal band phenotypes in MS differ in their HLA class II association, while specific KIR ligands at HLA class I show association to MS in general
    J Neuroimmunol, 274 (1-2), 174-9
    DOI 10.1016/j.jneuroim.2014.06.024, PubMed 25037176
  29. Haram M, Tesli M, Dieset I, Steen NE, Røssberg JI, Djurovic S, Andreassen OA, Melle I (2014)
    An attempt to identify single nucleotide polymorphisms contributing to possible relationships between personality traits and oxytocin-related genes
    Neuropsychobiology, 69 (1), 25-30
    DOI 10.1159/000356965, PubMed 24458227
  30. Heiberg A, Frich J, Røttingen JA (2014)
    [A. Heiberg and colleagues reply]
    Tidsskr Nor Laegeforen, 134 (8), 809-10
    DOI 10.4045/tidsskr.14.0451, PubMed 24780961
  31. Heimdal K, Sanchez-Guixé M, Aukrust I, Bollerslev J, Bruland O, Jablonski GE, Erichsen AK, Gude E, Koht JA, Erdal S, Fiskerstrand T, Haukanes BI, Boman H, Bjørkhaug L, Tallaksen CM, Knappskog PM, Johansson S (2014)
    STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity
    Orphanet J Rare Dis, 9, 146
    DOI 10.1186/s13023-014-0146-0, PubMed 25258038
  32. Horn MA, Retterstøl L, Abdelnoor M, Skjeldal OH, Tallaksen CM (2014)
    Age-dependent penetrance among females with X-linked adrenoleukodystrophy
    Brain, 138 (Pt 2), e325
    DOI 10.1093/brain/awu232, PubMed 25149409
  33. Johansson S, Berland S, Gradek GA, Bongers E, de Leeuw N, Pfundt R, Fannemel M, Rødningen O, Brendehaug A, Haukanes BI, Hovland R, Helland G, Houge G (2014)
    Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability
    Am J Med Genet A, 164A (7), 1622-6
    DOI 10.1002/ajmg.a.36498, PubMed 24678003
  34. Kauppi K, Westlye LT, Tesli M, Bettella F, Brandt CL, Mattingsdal M, Ueland T, Espeseth T, Agartz I, Melle I, Djurovic S, Andreassen OA (2014)
    Polygenic risk for schizophrenia associated with working memory-related prefrontal brain activation in patients with schizophrenia and healthy controls
    Schizophr Bull, 41 (3), 736-43
    DOI 10.1093/schbul/sbu152, PubMed 25392519
  35. Kotsopoulos J, Lubinski J, Gronwald J, Cybulski C, Demsky R, Neuhausen SL, Kim-Sing C, Tung N, Friedman S, Senter L, Weitzel J, Karlan B, Moller P, Sun P, Narod SA, Hereditary Breast Cancer Clinical Study Group (2014)
    Factors influencing ovulation and the risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers
    Int J Cancer, 137 (5), 1136-46
    DOI 10.1002/ijc.29386, PubMed 25482078
  36. Kotsopoulos J, Lubinski J, Moller P, Lynch HT, Singer CF, Eng C, Neuhausen SL, Karlan B, Kim-Sing C, Huzarski T, Gronwald J, McCuaig J, Senter L, Tung N, Ghadirian P, Eisen A, Gilchrist D, Blum JL, Zakalik D, Pal T, Sun P, Narod SA, Hereditary Breast Cancer Clinical Study Group (2014)
    Timing of oral contraceptive use and the risk of breast cancer in BRCA1 mutation carriers
    Breast Cancer Res Treat, 143 (3), 579-86
    DOI 10.1007/s10549-013-2823-4, PubMed 24458845
  37. Krogvold L, Edwin B, Buanes T, Frisk G, Skog O, Anagandula M, Korsgren O, Undlien D, Eike MC, Richardson SJ, Leete P, Morgan NG, Oikarinen S, Oikarinen M, Laiho JE, Hyöty H, Ludvigsson J, Hanssen KF, Dahl-Jørgensen K (2014)
    Detection of a low-grade enteroviral infection in the islets of langerhans of living patients newly diagnosed with type 1 diabetes
    Diabetes, 64 (5), 1682-7
    DOI 10.2337/db14-1370, PubMed 25422108
  38. Kulseth MA, Fagerlund A, Myrset AH (2014)
    Affinity selection using filamentous phage display
    Methods Mol Biol, 1088, 67-80
    DOI 10.1007/978-1-62703-673-3_5, PubMed 24146397
  39. Kverneland M, Taubøll E, Selmer KK, Iversen PO, Nakken KO (2014)
    Modified Atkins diet may reduce serum concentrations of antiepileptic drugs
    Acta Neurol Scand, 131 (3), 187-90
    DOI 10.1111/ane.12330, PubMed 25312999
  40. Leren TP (2014)
    Sorting an LDL receptor with bound PCSK9 to intracellular degradation
    Atherosclerosis, 237 (1), 76-81
    DOI 10.1016/j.atherosclerosis.2014.08.038, PubMed 25222343
  41. Liu H, Han N, Fang W, Adams J, Zheng K, Li T, Hu Z, Rayner S (2014)
    The limited number of available nucleotide and protein sequence data from the recent H7N9 cases in China impeded investigation and characterization of the outbreak
    Virol Sin, 29 (2), 126-7
    DOI 10.1007/s12250-014-3394-1, PubMed 24664817
  42. Lund C, Bjørnvold M, Tuft M, Kostov H, Røsby O, Selmer KK (2014)
    Aicardi syndrome: an epidemiologic and clinical study in Norway
    Pediatr Neurol, 52 (2), 182-6.e3
    DOI 10.1016/j.pediatrneurol.2014.10.022, PubMed 25443581
  43. Lund C, Brodtkorb E, Øye AM, Røsby O, Selmer KK (2014)
    CHD2 mutations in Lennox-Gastaut syndrome
    Epilepsy Behav, 33, 18-21
    DOI 10.1016/j.yebeh.2014.02.005, PubMed 24614520
  44. Marcos S, Sarfati J, Leroy C, Fouveaut C, Parent P, Metz C, Wolczynski S, Gérard M, Bieth E, Kurtz F, Verier-Mine O, Perrin L, Archambeaud F, Cabrol S, Rodien P, Hove H, Prescott T, Lacombe D, Christin-Maitre S, Touraine P, Hieronimus S, Dewailly D, Young J, Pugeat M, Hardelin JP et al. (2014)
    The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients
    J Clin Endocrinol Metab, 99 (10), E2138-43
    DOI 10.1210/jc.2014-2110, PubMed 25077900
  45. Milner JD, Vogel TP, Forbes L, Ma CA, Stray-Pedersen A, Niemela JE, Lyons JJ, Engelhardt KR, Zhang Y, Topcagic N, Roberson ED, Matthews H, Verbsky JW, Dasu T, Vargas-Hernandez A, Varghese N, McClain KL, Karam LB, Nahmod K, Makedonas G, Mace EM, Sorte HS, Perminow G, Rao VK, O'Connell MP et al. (2014)
    Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations
    Blood, 125 (4), 591-9
    DOI 10.1182/blood-2014-09-602763, PubMed 25359994
  46. Misceo D, Holmgren A, Louch WE, Holme PA, Mizobuchi M, Morales RJ, De Paula AM, Stray-Pedersen A, Lyle R, Dalhus B, Christensen G, Stormorken H, Tjønnfjord GE, Frengen E (2014)
    A dominant STIM1 mutation causes Stormorken syndrome
    Hum Mutat, 35 (5), 556-64
    DOI 10.1002/humu.22544, PubMed 24619930
  47. Mitchell AL, Macarthur KD, Gan EH, Baggott LE, Wolff AS, Skinningsrud B, Platt H, Short A, Lobell A, Kämpe O, Bensing S, Betterle C, Kasperlik-Zaluska A, Zurawek M, Fichna M, Kockum I, Nordling Eriksson G, Ekwall O, Wahlberg J, Dahlqvist P, Hulting AL, Penna-Martinez M, Meyer G, Kahles H, Badenhoop K et al. (2014)
    Association of autoimmune Addison's disease with alleles of STAT4 and GATA3 in European cohorts
    PLoS One, 9 (3), e88991
    DOI 10.1371/journal.pone.0088991, PubMed 24614117
  48. Moreno-Mayar JV, Rasmussen S, Seguin-Orlando A, Rasmussen M, Liang M, Flåm ST, Lie BA, Gilfillan GD, Nielsen R, Thorsby E, Willerslev E, Malaspinas AS (2014)
    Genome-wide ancestry patterns in Rapanui suggest pre-European admixture with Native Americans
    Curr Biol, 24 (21), 2518-25
    DOI 10.1016/j.cub.2014.09.057, PubMed 25447991
  49. Mundal L, Sarancic M, Ose L, Iversen PO, Borgan JK, Veierød MB, Leren TP, Retterstøl K (2014)
    Mortality among patients with familial hypercholesterolemia: a registry-based study in Norway, 1992-2010
    J Am Heart Assoc, 3 (6), e001236
    DOI 10.1161/JAHA.114.001236, PubMed 25468658
  50. Møller P, Stormorken A, Holmen MM, Hagen AI, Vabø A, Mæhle L (2014)
    The clinical utility of genetic testing in breast cancer kindreds: a prospective study in families without a demonstrable BRCA mutation
    Breast Cancer Res Treat, 144 (3), 607-14
    DOI 10.1007/s10549-014-2902-1, PubMed 24619173
  51. Naess S, Björnsson E, Anmarkrud JA, Al Mamari S, Juran BD, Lazaridis KN, Chapman R, Bergquist A, Melum E, Marsh SG, Schrumpf E, Lie BA, Boberg KM, Karlsen TH, Hov JR (2014)
    Small duct primary sclerosing cholangitis without inflammatory bowel disease is genetically different from large duct disease
    Liver Int, 34 (10), 1488-95
    DOI 10.1111/liv.12492, PubMed 24517468
  52. Nieuwenhuis MH, Kets CM, Murphy-Ryan M, Yntema HG, Evans DG, Colas C, Møller P, Hes FJ, Hodgson SV, Olderode-Berends MJ, Aretz S, Heinimann K, Gómez García EB, Douglas F, Spigelman A, Timshel S, Lindor NM, Vasen HF (2014)
    Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome
    Fam Cancer, 13 (1), 57-63
    DOI 10.1007/s10689-013-9674-3, PubMed 23934601
  53. Næss S, Lie BA, Melum E, Olsson M, Hov JR, Croucher PJ, Hampe J, Thorsby E, Bergquist A, Traherne JA, Schrumpf E, Boberg KM, Schreiber S, Franke A, Karlsen TH (2014)
    Refinement of the MHC risk map in a scandinavian primary sclerosing cholangitis population
    PLoS One, 9 (12), e114486
    DOI 10.1371/journal.pone.0114486, PubMed 25521205
  54. Rainger J, Pehlivan D, Johansson S, Bengani H, Sanchez-Pulido L, Williamson KA, Ture M, Barker H, Rosendahl K, Spranger J, Horn D, Meynert A, Floyd JA, Prescott T, Anderson CA, Rainger JK, Karaca E, Gonzaga-Jauregui C, Jhangiani S, Muzny DM, Seawright A, Soares DC, Kharbanda M, Murday V, Finch A et al. (2014)
    Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations
    Am J Hum Genet, 94 (6), 915-23
    DOI 10.1016/j.ajhg.2014.05.005, PubMed 24906020
  55. Ramm-Pettersen A, Nakken KO, Haavardsholm KC, Selmer KK (2014)
    Occurrence of GLUT1 deficiency syndrome in patients treated with ketogenic diet
    Epilepsy Behav, 32, 76-8
    DOI 10.1016/j.yebeh.2014.01.003, PubMed 24508593
  56. Ramm-Pettersen A, Stabell KE, Nakken KO, Selmer KK (2014)
    Does ketogenic diet improve cognitive function in patients with GLUT1-DS? A 6- to 17-month follow-up study
    Epilepsy Behav, 39, 111-5
    DOI 10.1016/j.yebeh.2014.08.015, PubMed 25240122
  57. Rasmussen T, Yap SE, Stray-Pedersen B, Akselsen HE, McKinney PA, Rønningen KS (2014)
    HLA associated type 1 diabetes risk in children of Pakistani migrants to Norway
    Med Hypotheses, 83 (6), 664-7
    DOI 10.1016/j.mehy.2014.09.013, PubMed 25441839
  58. Rezwan FI, Poole RL, Prescott T, Walker JM, Karen Temple I, Mackay DJ (2014)
    Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b
    Eur J Hum Genet, 23 (4), 494-9
    DOI 10.1038/ejhg.2014.133, PubMed 25005734
  59. Samarakoon PS, Sorte HS, Kristiansen BE, Skodje T, Sheng Y, Tjønnfjord GE, Stadheim B, Stray-Pedersen A, Rødningen OK, Lyle R (2014)
    Identification of copy number variants from exome sequence data
    BMC Genomics, 15, 661
    DOI 10.1186/1471-2164-15-661, PubMed 25102989
  60. Schanze D, Neubauer D, Cormier-Daire V, Delrue MA, Dieux-Coeslier A, Hasegawa T, Holmberg EE, Koenig R, Krueger G, Schanze I, Seemanova E, Shaw AC, Vogt J, Volleth M, Reis A, Meinecke P, Hennekam RC, Zenker M (2014)
    Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome
    Hum Mutat, 35 (9), 1092-100
    DOI 10.1002/humu.22603, PubMed 24924640
  61. Schizophrenia Working Group of the Psychiatric Genomics Consortium (2014)
    Biological insights from 108 schizophrenia-associated genetic loci
    Nature, 511 (7510), 421-7
    DOI 10.1038/nature13595, PubMed 25056061
  62. Siddiqui H, Lagesen K, Nederbragt AJ, Eri LM, Jeansson SL, Jakobsen KS (2014)
    Pathogens in Urine from a Female Patient with Overactive Bladder Syndrome Detected by Culture-independent High Throughput Sequencing: A Case Report
    Open Microbiol J, 8, 148-53
    DOI 10.2174/1874285801408010148, PubMed 25685246
  63. Smith MJ, Isidor B, Beetz C, Williams SG, Bhaskar SS, Richer W, O'Sullivan J, Anderson B, Daly SB, Urquhart JE, Fryer A, Rustad CF, Mills SJ, Samii A, du Plessis D, Halliday D, Barbarot S, Bourdeaut F, Newman WG, Evans DG (2014)
    Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis
    Neurology, 84 (2), 141-7
    DOI 10.1212/WNL.0000000000001129, PubMed 25480913
  64. Song M, Tang Q, Rayner S, Tao XY, Li H, Guo ZY, Shen XX, Jiao WT, Fang W, Wang J, Liang GD (2014)
    Human rabies surveillance and control in China, 2005-2012
    BMC Infect Dis, 14, 212
    DOI 10.1186/1471-2334-14-212, PubMed 24742224
  65. Squadrito ML, Baer C, Burdet F, Maderna C, Gilfillan GD, Lyle R, Ibberson M, De Palma M (2014)
    Endogenous RNAs modulate microRNA sorting to exosomes and transfer to acceptor cells
    Cell Rep, 8 (5), 1432-46
    DOI 10.1016/j.celrep.2014.07.035, PubMed 25159140
  66. Star B, Nederbragt AJ, Hansen MH, Skage M, Gilfillan GD, Bradbury IR, Pampoulie C, Stenseth NC, Jakobsen KS, Jentoft S (2014)
    Palindromic sequence artifacts generated during next generation sequencing library preparation from historic and ancient DNA
    PLoS One, 9 (3), e89676
    DOI 10.1371/journal.pone.0089676, PubMed 24608104
  67. Stormo C, Kringen MK, Lyle R, Olstad OK, Sachse D, Berg JP, Piehler AP (2014)
    RNA-sequencing analysis of HepG2 cells treated with atorvastatin
    PLoS One, 9 (8), e105836
    DOI 10.1371/journal.pone.0105836, PubMed 25153832
  68. Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, Gambin T, Elgstøen KB, Bjørås M, Wlodarski MW, Krüger M, Jhangiani SN, Muzny DM, Patel A, Raymond KM, Sasa GS, Krance RA, Martinez CA, Abraham SM, Speckmann C, Ehl S, Hall P, Forbes LR, Merckoll E, Westvik J et al. (2014)
    PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia
    Am J Hum Genet, 95 (1), 96-107
    DOI 10.1016/j.ajhg.2014.05.007, PubMed 24931394
  69. Stray-Pedersen A, Jouanguy E, Crequer A, Bertuch AA, Brown BS, Jhangiani SN, Muzny DM, Gambin T, Sorte H, Sasa G, Metry D, Campbell J, Sockrider MM, Dishop MK, Scollard DM, Gibbs RA, Mace EM, Orange JS, Lupski JR, Casanova JL, Noroski LM (2014)
    Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy
    J Clin Immunol, 34 (7), 871-90
    DOI 10.1007/s10875-014-0074-8, PubMed 25073507
  70. Strøm TB, Tveten K, Laerdahl JK, Leren TP (2014)
    Mutation G805R in the transmembrane domain of the LDL receptor gene causes familial hypercholesterolemia by inducing ectodomain cleavage of the LDL receptor in the endoplasmic reticulum
    FEBS Open Bio, 4, 321-7
    DOI 10.1016/j.fob.2014.03.007, PubMed 24918045
  71. Strøm TB, Tveten K, Leren TP (2014)
    PCSK9 acts as a chaperone for the LDL receptor in the endoplasmic reticulum
    Biochem J, 457 (1), 99-105
    DOI 10.1042/BJ20130930, PubMed 24144304
  72. Taruscio D, Vittozzi L, Choquet R, Heimdal K, Iskrov G, Kodra Y, Landais P, Posada M, Stefanov R, Steinmueller C, Swinnen E, Van Oyen H (2014)
    National registries of rare diseases in Europe: an overview of the current situation and experiences
    Public Health Genomics, 18 (1), 20-5
    DOI 10.1159/000365897, PubMed 25228300
  73. Tesli M, Espeseth T, Bettella F, Mattingsdal M, Aas M, Melle I, Djurovic S, Andreassen OA (2014)
    Polygenic risk score and the psychosis continuum model
    Acta Psychiatr Scand, 130 (4), 311-7
    DOI 10.1111/acps.12307, PubMed 24961959
  74. Tharmaratnam K, Hagen AI, Møller P (2014)
    MRI screening of women with hereditary predisposition to breast cancer: diagnostic performance and survival analysis
    Breast Cancer Res Treat, 148 (3), 687-8
    DOI 10.1007/s10549-014-3178-1, PubMed 25398653
  75. Thompson PM, Stein JL, Medland SE, Hibar DP, Vasquez AA, Renteria ME, Toro R, Jahanshad N, Schumann G, Franke B, Wright MJ, Martin NG, Agartz I, Alda M, Alhusaini S, Almasy L, Almeida J, Alpert K, Andreasen NC, Andreassen OA, Apostolova LG, Appel K, Armstrong NJ, Aribisala B, Bastin ME et al. (2014)
    The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data
    Brain Imaging Behav, 8 (2), 153-82
    DOI 10.1007/s11682-013-9269-5, PubMed 24399358
  76. Tinholt M, Viken MK, Dahm AE, Vollan HK, Sahlberg KK, Garred O, Børresen-Dale AL, Jacobsen AF, Kristensen V, Bukholm I, Kåresen R, Schlichting E, Skretting G, Lie BA, Sandset PM, Iversen N (2014)
    Increased coagulation activity and genetic polymorphisms in the F5, F10 and EPCR genes are associated with breast cancer: a case-control study
    BMC Cancer, 14, 845
    DOI 10.1186/1471-2407-14-845, PubMed 25407022
  77. Vetvik KK, Sonerud T, Lindeberg M, Lüders T, Størkson RH, Jonsdottir K, Frengen E, Pietiläinen KH, Bukholm I (2014)
    Globular adiponectin and its downstream target genes are up-regulated locally in human colorectal tumors: ex vivo and in vitro studies
    Metabolism, 63 (5), 672-81
    DOI 10.1016/j.metabol.2014.02.001, PubMed 24636346
  78. von der Lippe C, Roscher I, Nordgarden H, Rustad C, Larsen SM, Mjøen E, Bratland Å (2014)
    Man with macrocephaly, learning disability and multiple basal cell carcinomas
    Tidsskr Nor Laegeforen, 134 (11), 1151-4
    DOI 10.4045/tidsskr.13.0894, PubMed 24939783
  79. Walz K, Cohen D, Neilsen PM, Foster J, Brancati F, Demir K, Fisher R, Moffat M, Verbeek NE, Bjørgo K, Lo Castro A, Curatolo P, Novelli G, Abad C, Lei C, Zhang L, Diaz-Horta O, Young JI, Callen DF, Tekin M (2014)
    Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome
    Hum Genet, 134 (2), 181-90
    DOI 10.1007/s00439-014-1509-2, PubMed 25413698
  80. Wedding IM, Koht J, Tran GT, Misceo D, Selmer KK, Holmgren A, Frengen E, Bindoff L, Tallaksen CM, Tzoulis C (2014)
    Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions
    PLoS One, 9 (1), e86340
    DOI 10.1371/journal.pone.0086340, PubMed 24466038
  81. Weedon-Fekjær MS, Sheng Y, Sugulle M, Johnsen GM, Herse F, Redman CW, Lyle R, Dechend R, Staff AC (2014)
    Placental miR-1301 is dysregulated in early-onset preeclampsia and inversely correlated with maternal circulating leptin
    Placenta, 35 (9), 709-17
    DOI 10.1016/j.placenta.2014.07.002, PubMed 25064070
  82. Wirgenes KV, Tesli M, Inderhaug E, Athanasiu L, Agartz I, Melle I, Hughes T, Andreassen OA, Djurovic S (2014)
    ANK3 gene expression in bipolar disorder and schizophrenia
    Br J Psychiatry, 205 (3), 244-5
    DOI 10.1192/bjp.bp.114.145433, PubMed 24809399
  83. Xiao X, Sogge H, Lagesen K, Tooming-Klunderud A, Jakobsen KS, Rohrlack T (2014)
    Use of high throughput sequencing and light microscopy show contrasting results in a study of phytoplankton occurrence in a freshwater environment
    PLoS One, 9 (8), e106510
    DOI 10.1371/journal.pone.0106510, PubMed 25171164
  84. Yu F, Zhang G, Zhong X, Han N, Song Y, Zhao L, Cui M, Rayner S, Fu ZF (2014)
    Comparison of complete genome sequences of dog rabies viruses isolated from China and Mexico reveals key amino acid changes that may be associated with virus replication and virulence
    Arch Virol, 159 (7), 1593-601
    DOI 10.1007/s00705-013-1966-2, PubMed 24395077
  85. Zai CC, Manchia M, Sønderby IE, Yilmaz Z, De Luca V, Tiwari AK, Squassina A, Zai GC, Shaikh SA, Strauss J, King N, Le Foll B, Kaplan AS, Finseth PI, Vaaler AE, Djurovic S, Andreassen OA, Vincent JB, Kennedy JL (2014)
    Investigation of the genetic interaction between BDNF and DRD3 genes in suicidical behaviour in psychiatric disorders
    World J Biol Psychiatry, 16 (3), 171-9
    DOI 10.3109/15622975.2014.953011, PubMed 25264289
  86. Zink AM, Wohlleber E, Engels H, Rødningen OK, Ravn K, Heilmann S, Rehnitz J, Katzorke N, Kraus C, Blichfeldt S, Hoffmann P, Reutter H, Brockschmidt FF, Kreiß-Nachtsheim M, Vogt PH, Prescott TE, Tümer Z, Lee JA (2014)
    Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies
    Mol Syndromol, 5 (2), 65-75
    DOI 10.1159/000357962, PubMed 24715853
  87. Aas M, Haukvik UK, Djurovic S, Tesli M, Athanasiu L, Bjella T, Hansson L, Cattaneo A, Agartz I, Andreassen OA, Melle I (2014)
    Interplay between childhood trauma and BDNF val66met variants on blood BDNF mRNA levels and on hippocampus subfields volumes in schizophrenia spectrum and bipolar disorders
    J Psychiatr Res, 59, 14-21
    DOI 10.1016/j.jpsychires.2014.08.011, PubMed 25246365

Publications 2013

  1. Almaas VM, Haugaa KH, Strøm EH, Scott H, Dahl CP, Leren TP, Geiran OR, Endresen K, Edvardsen T, Aakhus S, Amlie JP (2013)
    Increased amount of interstitial fibrosis predicts ventricular arrhythmias, and is associated with reduced myocardial septal function in patients with obstructive hypertrophic cardiomyopathy
    Europace, 15 (9), 1319-27
    DOI 10.1093/europace/eut028, PubMed 23426552
  2. Barøy T, Misceo D, Strømme P, Stray-Pedersen A, Holmgren A, Rødningen OK, Blomhoff A, Helle JR, Stormyr A, Tvedt B, Fannemel M, Frengen E (2013)
    Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability
    Orphanet J Rare Dis, 8, 3
    DOI 10.1186/1750-1172-8-3, PubMed 23294540
  3. Berge KE, Leren TP (2013)
    Genetics of hypertrophic cardiomyopathy in Norway
    Clin Genet, 86 (4), 355-60
    DOI 10.1111/cge.12286, PubMed 24111713
  4. Bergmann O, Haukvik UK, Brown AA, Rimol LM, Hartberg CB, Athanasiu L, Melle I, Djurovic S, Andreassen OA, Dale AM, Agartz I (2013)
    ZNF804A and cortical thickness in schizophrenia and bipolar disorder
    Psychiatry Res, 212 (2), 154-7
    DOI 10.1016/j.pscychresns.2013.01.007, PubMed 23562677
  5. Boissé Lomax L, Bayly MA, Hjalgrim H, Møller RS, Vlaar AM, Aaberg KM, Marquardt I, Gandolfo LC, Willemsen M, Kamsteeg EJ, O'Sullivan JD, Korenke GC, Bloem BR, de Coo IF, Verhagen JM, Said I, Prescott T, Stray-Pedersen A, Rasmussen M, Vears DF, Lehesjoki AE, Corbett MA, Bahlo M, Gecz J, Dibbens LM et al. (2013)
    'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation
    Brain, 136 (Pt 4), 1146-54
    DOI 10.1093/brain/awt021, PubMed 23449775
  6. Chen P, Gan Y, Han N, Fang W, Li J, Zhao F, Hu K, Rayner S (2013)
    Computational evolutionary analysis of the overlapped surface (S) and polymerase (P) region in hepatitis B virus indicates the spacer domain in P is crucial for survival
    PLoS One, 8 (4), e60098
    DOI 10.1371/journal.pone.0060098, PubMed 23577084
  7. Corsten-Janssen N, Kerstjens-Frederikse WS, du Marchie Sarvaas GJ, Baardman ME, Bakker MK, Bergman JE, Hove HD, Heimdal KR, Rustad CF, Hennekam RC, Hofstra RM, Hoefsloot LH, Van Ravenswaaij-Arts CM, Kapusta L (2013)
    The cardiac phenotype in patients with a CHD7 mutation
    Circ Cardiovasc Genet, 6 (3), 248-54
    DOI 10.1161/CIRCGENETICS.113.000054, PubMed 23677905
  8. Cross-Disorder Group of the Psychiatric Genomics Consortium, Lee SH, Ripke S, Neale BM, Faraone SV, Purcell SM, Perlis RH, Mowry BJ, Thapar A, Goddard ME, Witte JS, Absher D, Agartz I, Akil H, Amin F, Andreassen OA, Anjorin A, Anney R, Anttila V, Arking DE, Asherson P, Azevedo MH, Backlund L, Badner JA, Bailey AJ et al. (2013)
    Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
    Nat Genet, 45 (9), 984-94
    DOI 10.1038/ng.2711, PubMed 23933821
  9. Edvardsen H, Landmark-Høyvik H, Reinertsen KV, Zhao X, Grenaker-Alnæs GI, Nebdal D, Syvänen AC, Rødningen O, Alsner J, Overgaard J, Borresen-Dale AL, Fosså SD, Kristensen VN (2013)
    SNP in TXNRD2 associated with radiation-induced fibrosis: a study of genetic variation in reactive oxygen species metabolism and signaling
    Int J Radiat Oncol Biol Phys, 86 (4), 791-9
    DOI 10.1016/j.ijrobp.2013.02.025, PubMed 23597419
  10. Egeland T, Pinto N, Vigeland MD (2013)
    A general approach to power calculation for relationship testing
    Forensic Sci Int Genet, 9, 186-90
    DOI 10.1016/j.fsigen.2013.05.001, PubMed 23810238
  11. Finseth PI, Sønderby IE, Djurovic S, Agartz I, Malt UF, Melle I, Morken G, Andreassen OA, Vaaler AE, Tesli M (2013)
    Association analysis between suicidal behaviour and candidate genes of bipolar disorder and schizophrenia
    J Affect Disord, 163, 110-4
    DOI 10.1016/j.jad.2013.12.018, PubMed 24461634
  12. Gallipoli P, Stobo J, Heaney N, Nicolini FE, Clark R, Wilson G, Tighe J, McLintock L, Hughes T, Michor F, Paul J, Drummond M, Holyoake TL (2013)
    Safety and efficacy of pulsed imatinib with or without G-CSF versus continuous imatinib in chronic phase chronic myeloid leukaemia patients at 5 years follow-up
    Br J Haematol, 163 (5), 674-6
    DOI 10.1111/bjh.12532, PubMed 24032404
  13. Gamage TH, Misceo D, Fannemel M, Frengen E (2013)
    A balanced de novo inv(7)(p14.3q22.3) disrupting PDE1C and ATXN7L1 in a 14-year old developmentally delayed boy
    Eur J Med Genet, 56 (7), 361-4
    DOI 10.1016/j.ejmg.2013.04.005, PubMed 23664928
  14. Geisler J, Bachmann IM, Nyakas M, Helsing P, Fjøsne HE, Mæhle LO, Aamdal S, Eide NA, Svendsen HL, Straume O, Robsahm TE, Jacobsen KD, Akslen LA (2013)
    Malignant melanoma--diagnosis, treatment and follow-up in Norway
    Tidsskr Nor Laegeforen, 133 (20), 2154-9
    DOI 10.4045/tidsskr.12.1416, PubMed 24172628
  15. Guo Z, Tao X, Yin C, Han N, Yu J, Li H, Liu H, Fang W, Adams J, Wang J, Liang G, Tang Q, Rayner S (2013)
    National borders effectively halt the spread of rabies: the current rabies epidemic in China is dislocated from cases in neighboring countries
    PLoS Negl Trop Dis, 7 (1), e2039
    DOI 10.1371/journal.pntd.0002039, PubMed 23383359
  16. Hagen AI, Mæhle L, Vedå N, Vetti HH, Stormorken A, Ludvigsen T, Guntvedt B, Isern AE, Schlichting E, Kleppe G, Bofin A, Gullestad HP, Møller P (2013)
    Risk reducing mastectomy, breast reconstruction and patient satisfaction in Norwegian BRCA1/2 mutation carriers
    Breast, 23 (1), 38-43
    DOI 10.1016/j.breast.2013.10.002, PubMed 24210736
  17. Hasselberg NE, Edvardsen T, Petri H, Berge KE, Leren TP, Bundgaard H, Haugaa KH (2013)
    Risk prediction of ventricular arrhythmias and myocardial function in Lamin A/C mutation positive subjects
    Europace, 16 (4), 563-71
    DOI 10.1093/europace/eut291, PubMed 24058181
  18. Helle JR, Barøy T, Misceo D, Braaten Ø, Fannemel M, Frengen E (2013)
    Hyperphagia, mild developmental delay but apparently no structural brain anomalies in a boy without SOX3 expression
    Am J Med Genet A, 161A (5), 1137-42
    DOI 10.1002/ajmg.a.35823, PubMed 23463539
  19. Hercus TR, Dhagat U, Kan WL, Broughton SE, Nero TL, Perugini M, Sandow JJ, D'Andrea RJ, Ekert PG, Hughes T, Parker MW, Lopez AF (2013)
    Signalling by the βc family of cytokines
    Cytokine Growth Factor Rev, 24 (3), 189-201
    DOI 10.1016/j.cytogfr.2013.03.002, PubMed 23535386
  20. Holm I, Monclair T, Lundar T, Stadheim B, Prescott TE, Eiklid KL (2013)
    A 5.8 kb deletion removing the entire MNX1 gene in a Norwegian family with Currarino syndrome
    Gene, 518 (2), 457-60
    DOI 10.1016/j.gene.2013.01.029, PubMed 23370340
  21. Holven KB, Retterstøl K, Ueland T, Ulven SM, Nenseter MS, Sandvik M, Narverud I, Berge KE, Ose L, Aukrust P, Halvorsen B (2013)
    Subjects with low plasma HDL cholesterol levels are characterized by an inflammatory and oxidative phenotype
    PLoS One, 8 (11), e78241
    DOI 10.1371/journal.pone.0078241, PubMed 24244297
  22. Horn MA, Retterstøl L, Abdelnoor M, Skjeldal OH, Tallaksen CM (2013)
    Adrenoleukodystrophy in Norway: high rate of de novo mutations and age-dependent penetrance
    Pediatr Neurol, 48 (3), 212-9
    DOI 10.1016/j.pediatrneurol.2012.12.007, PubMed 23419472
  23. Huang Y, Tang Q, Rayner S, Gong K, Song B, Liang GD (2013)
    Pathogenicity of rabies viruses isolated in China: two fixed strains and a street strain
    Biomed Environ Sci, 26 (7), 552-61
    DOI 10.3967/0895-3988.2013.07.006, PubMed 23895700
  24. International Genetics of Ankylosing Spondylitis Consortium (IGAS), Cortes A, Hadler J, Pointon JP, Robinson PC, Karaderi T, Leo P, Cremin K, Pryce K, Harris J, Lee S, Joo KB, Shim SC, Weisman M, Ward M, Zhou X, Garchon HJ, Chiocchia G, Nossent J, Lie BA, Førre Ø, Tuomilehto J, Laiho K, Jiang L, Liu Y et al. (2013)
    Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci
    Nat Genet, 45 (7), 730-8
    DOI 10.1038/ng.2667, PubMed 23749187
  25. International Multiple Sclerosis Genetics Consortium (IMSGC), Beecham AH, Patsopoulos NA, Xifara DK, Davis MF, Kemppinen A, Cotsapas C, Shah TS, Spencer C, Booth D, Goris A, Oturai A, Saarela J, Fontaine B, Hemmer B, Martin C, Zipp F, D'Alfonso S, Martinelli-Boneschi F, Taylor B, Harbo HF, Kockum I, Hillert J, Olsson T, Ban M et al. (2013)
    Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis
    Nat Genet, 45 (11), 1353-60
    DOI 10.1038/ng.2770, PubMed 24076602
  26. Irgens HU, Molnes J, Johansson BB, Ringdal M, Skrivarhaug T, Undlien DE, Søvik O, Joner G, Molven A, Njølstad PR (2013)
    Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry
    Diabetologia, 56 (7), 1512-9
    DOI 10.1007/s00125-013-2916-y, PubMed 23624530
  27. Lekva T, Berg JP, Lyle R, Heck A, Ringstad G, Olstad OK, Michelsen AE, Casar-Borota O, Bollerslev J, Ueland T (2013)
    Epithelial splicing regulator protein 1 and alternative splicing in somatotroph adenomas
    Endocrinology, 154 (9), 3331-43
    DOI 10.1210/en.2013-1051, PubMed 23825128
  28. Li L, Han N, Lu J, Li T, Zhong X, Wu H, Rayner S, Chen L, Liu Y, Wang X, Li H, Li J (2013)
    Genetic characterization and transmitted drug resistance of the HIV type 1 epidemic in men who have sex with men in Beijing, China
    AIDS Res Hum Retroviruses, 29 (3), 633-7
    DOI 10.1089/aid.2012.0281, PubMed 23121221
  29. Lund C, Brodtkorb E, Røsby O, Rødningen OK, Selmer KK (2013)
    Copy number variants in adult patients with Lennox-Gastaut syndrome features
    Epilepsy Res, 105 (1-2), 110-7
    DOI 10.1016/j.eplepsyres.2013.01.009, PubMed 23415449
  30. Lærum H, Bremer S, Bergan S, Grünfeld T (2013)
    A taste of individualized medicine: physicians' reactions to automated genetic interpretations
    J Am Med Inform Assoc, 21 (e1), e143-6
    DOI 10.1136/amiajnl-2012-001587, PubMed 24001515
  31. Maehlen MT, Olsen IC, Andreassen BK, Viken MK, Jiang X, Alfredsson L, Källberg H, Brynedal B, Kurreeman F, Daha N, Toes R, Zhernakova A, Gutierrez-Achury J, de Bakker PI, Martin J, Teruel M, Gonzalez-Gay MA, Rodríguez-Rodríguez L, Balsa A, Uhlig T, Kvien TK, Lie BA (2013)
    Genetic risk scores and number of autoantibodies in patients with rheumatoid arthritis
    Ann Rheum Dis, 74 (4), 762-8
    DOI 10.1136/annrheumdis-2013-204173, PubMed 24336335
  32. Maehlen MT, Provan SA, de Rooy DP, van der Helm-van Mil AH, Krabben A, Saxne T, Lindqvist E, Semb AG, Uhlig T, van der Heijde D, Mero IL, Olsen IC, Kvien TK, Lie BA (2013)
    Associations between APOE genotypes and disease susceptibility, joint damage and lipid levels in patients with rheumatoid arthritis
    PLoS One, 8 (4), e60970
    DOI 10.1371/journal.pone.0060970, PubMed 23613766
  33. Mero IL, Gustavsen MW, Sæther HS, Flåm ST, Berg-Hansen P, Søndergaard HB, Jensen PE, Berge T, Bjølgerud A, Muggerud A, Aarseth JH, International Multiple Sclerosis Genetics Consortium, Myhr KM, Celius EG, Sellebjerg F, Hillert J, Alfredsson L, Olsson T, Oturai AB, Kockum I, Lie BA, Andreassen BK, Harbo HF (2013)
    Oligoclonal band status in Scandinavian multiple sclerosis patients is associated with specific genetic risk alleles
    PLoS One, 8 (3), e58352
    DOI 10.1371/journal.pone.0058352, PubMed 23472185
  34. Monclair T, Lundar T, Smevik B, Holm I, Ørstavik KH (2013)
    Currarino syndrome at Rikshospitalet 1961-2012
    Tidsskr Nor Laegeforen, 133 (22), 2364-8
    DOI 10.4045/tidsskr.13.0352, PubMed 24287836
  35. Møller P (2013)
    [Sperm mutations and older fathers]
    Tidsskr Nor Laegeforen, 133 (6), 609
    DOI 10.4045/tidsskr.13.0253, PubMed 23552137
  36. Møller P, Stormorken A, Jonsrud C, Holmen MM, Hagen AI, Clark N, Vabø A, Sun P, Narod SA, Mæhle L (2013)
    Survival of patients with BRCA1-associated breast cancer diagnosed in an MRI-based surveillance program
    Breast Cancer Res Treat, 139 (1), 155-61
    DOI 10.1007/s10549-013-2540-z, PubMed 23615785
  37. Møller RS, Jensen LR, Maas SM, Filmus J, Capurro M, Hansen C, Marcelis CL, Ravn K, Andrieux J, Mathieu M, Kirchhoff M, Rødningen OK, de Leeuw N, Yntema HG, Froyen G, Vandewalle J, Ballon K, Klopocki E, Joss S, Tolmie J, Knegt AC, Lund AM, Hjalgrim H, Kuss AW, Tommerup N et al. (2013)
    X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome
    Hum Genet, 133 (5), 625-38
    DOI 10.1007/s00439-013-1403-3, PubMed 24326587
  38. Nakasone ES, Askautrud HA, Egeblad M (2013)
    Live imaging of drug responses in the tumor microenvironment in mouse models of breast cancer
    J Vis Exp (73), e50088
    DOI 10.3791/50088, PubMed 23542634
  39. Nordang GB, Flåm ST, Maehlen MT, Kvien TK, Viken MK, Lie BA (2013)
    HLA-C alleles confer risk for anti-citrullinated peptide antibody-positive rheumatoid arthritis independent of HLA-DRB1 alleles
    Rheumatology (Oxford), 52 (11), 1973-82
    DOI 10.1093/rheumatology/ket252, PubMed 23901134
  40. Nordstrøm M, Hansen BH, Paus B, Kolset SO (2013)
    Accelerometer-determined physical activity and walking capacity in persons with Down syndrome, Williams syndrome and Prader-Willi syndrome
    Res Dev Disabil, 34 (12), 4395-403
    DOI 10.1016/j.ridd.2013.09.021, PubMed 24139709
  41. Omair A, Holden M, Lie BA, Reikeras O, Brox JI (2013)
    Treatment outcome of chronic low back pain and radiographic lumbar disc degeneration are associated with inflammatory and matrix degrading gene variants: a prospective genetic association study
    BMC Musculoskelet Disord, 14, 105
    DOI 10.1186/1471-2474-14-105, PubMed 23522322
  42. Pan X, Li XJ, Liu XJ, Yuan H, Li JF, Duan YL, Ye HQ, Fu YR, Qiao GH, Wu CC, Yang B, Tian XH, Hu KH, Miao LF, Chen XL, Zheng J, Rayner S, Schwartz PH, Britt WJ, Xu J, Luo MH (2013)
    Later passages of neural progenitor cells from neonatal brain are more permissive for human cytomegalovirus infection
    J Virol, 87 (20), 10968-79
    DOI 10.1128/JVI.01120-13, PubMed 23903847
  43. Papathomas TG, Gaal J, Corssmit EP, Oudijk L, Korpershoek E, Heimdal K, Bayley JP, Morreau H, van Dooren M, Papaspyrou K, Schreiner T, Hansen T, Andresen PA, Restuccia DF, van Kessel I, van Leenders GJ, Kros JM, Looijenga LH, Hofland LJ, Mann W, van Nederveen FH, Mete O, Asa SL, de Krijger RR, Dinjens WN (2013)
    Non-pheochromocytoma (PCC)/paraganglioma (PGL) tumors in patients with succinate dehydrogenase-related PCC-PGL syndromes: a clinicopathological and molecular analysis
    Eur J Endocrinol, 170 (1), 1-12
    DOI 10.1530/EJE-13-0623, PubMed 24096523
  44. Pareek M, Pedersen RL, Leren TP, Jensen HK (2013)
    [Weight loss pills purchased on the internet as the cause of ventricular fibrillation]
    Ugeskr Laeger, 175 (11), 739-40
    PubMed 23480888
  45. Paulsson K, Forestier E, Andersen MK, Autio K, Barbany G, Borgström G, Cavelier L, Golovleva I, Heim S, Heinonen K, Hovland R, Johannsson JH, Kjeldsen E, Nordgren A, Palmqvist L, Johansson B, Nordic Society of Pediatric Hematology and Oncology (NOPHO), Swedish Cytogenetic Leukemia Study Group (SCLSG), NOPHO Leukemia Cytogenetic Study Group (NLCSG) (2013)
    High modal number and triple trisomies are highly correlated favorable factors in childhood B-cell precursor high hyperdiploid acute lymphoblastic leukemia treated according to the NOPHO ALL 1992/2000 protocols
    Haematologica, 98 (9), 1424-32
    DOI 10.3324/haematol.2013.085852, PubMed 23645689
  46. Pedurupillay CR, Misceo D, Gamage TH, Dissanayake VH, Frengen E (2013)
    Post-zygotic breakage of a dicentric chromosome results in mosaicism for a telocentric 9p marker chromosome in a boy with developmental delay
    Gene, 533 (1), 403-10
    DOI 10.1016/j.gene.2013.09.090, PubMed 24095780
  47. Peña-Diaz J, Hegre SA, Anderssen E, Aas PA, Mjelle R, Gilfillan GD, Lyle R, Drabløs F, Krokan HE, Sætrom P (2013)
    Transcription profiling during the cell cycle shows that a subset of Polycomb-targeted genes is upregulated during DNA replication
    Nucleic Acids Res, 41 (5), 2846-56
    DOI 10.1093/nar/gks1336, PubMed 23325852
  48. Prescott T (2013)
    A diagnostic revolution
    Tidsskr Nor Laegeforen, 133 (15), 1550-1
    DOI 10.4045/tidsskr.13.0747, PubMed 23970244
  49. Prescott T, Redfors M, Rustad CF, Eiklid KL, Geirdal AØ, Storhaug K, Jensen JL (2013)
    Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of life
    Eur J Med Genet, 56 (3), 131-7
    DOI 10.1016/j.ejmg.2012.12.008, PubMed 23298620
  50. Ramm-Pettersen A, Nakken KO, Skogseid IM, Randby H, Skei EB, Bindoff LA, Selmer KK (2013)
    Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study
    Dev Med Child Neurol, 55 (5), 440-7
    DOI 10.1111/dmcn.12096, PubMed 23448551
  51. Redfors M, Jensen JL, Storhaug K, Prescott T, Larheim TA (2013)
    Cherubism: panoramic and CT features in adults
    Dentomaxillofac Radiol, 42 (10), 20130034
    DOI 10.1259/dmfr.20130034, PubMed 24048692
  52. Renault NK, Pritchett SM, Howell RE, Greer WL, Sapienza C, Ørstavik KH, Hamilton DC (2013)
    Human X-chromosome inactivation pattern distributions fit a model of genetically influenced choice better than models of completely random choice
    Eur J Hum Genet, 21 (12), 1396-402
    DOI 10.1038/ejhg.2013.84, PubMed 23652377
  53. Segev Y, Iqbal J, Lubinski J, Gronwald J, Lynch HT, Moller P, Ghadirian P, Rosen B, Tung N, Kim-Sing C, Foulkes WD, Neuhausen SL, Senter L, Singer CF, Karlan B, Ping S, Narod SA, Hereditary Breast Cancer Study Group (2013)
    The incidence of endometrial cancer in women with BRCA1 and BRCA2 mutations: an international prospective cohort study
    Gynecol Oncol, 130 (1), 127-31
    DOI 10.1016/j.ygyno.2013.03.027, PubMed 23562522
  54. Serrano A, Márquez A, Mackie SL, Carmona FD, Solans R, Miranda-Filloy JA, Hernández-Rodríguez J, Cid MC, Castañeda S, Morado IC, Narváez J, Blanco R, Sopeña B, García-Villanueva MJ, Monfort J, Ortego-Centeno N, Unzurrunzaga A, Marí-Alfonso B, Sánchez Martín J, de Miguel E, Magro C, Raya E, UK GCA Consortium, Spanish GCA Consortium, Braun N et al. (2013)
    Identification of the PTPN22 functional variant R620W as susceptibility genetic factor for giant cell arteritis
    Ann Rheum Dis, 72 (11), 1882-1886
    DOI 10.1136/annrheumdis-2013-203641, PubMed 23946333
  55. Shah S, Conlin LK, Gomez L, Aagenaes Ø, Eiklid K, Knisely AS, Mennuti MT, Matthews RP, Spinner NB, Bull LN (2013)
    CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops
    PLoS One, 8 (9), e75770
    DOI 10.1371/journal.pone.0075770, PubMed 24086631
  56. Stavik B, Tinholt M, Sletten M, Skretting G, Sandset PM, Iversen N (2013)
    TFPIα and TFPIβ are expressed at the surface of breast cancer cells and inhibit TF-FVIIa activity
    J Hematol Oncol, 6, 5
    DOI 10.1186/1756-8722-6-5, PubMed 23320987
  57. Tao X, Han N, Guo Z, Tang Q, Rayner S, Liang G (2013)
    Molecular characterization of China human rabies vaccine strains
    Virol Sin, 28 (2), 116-23
    DOI 10.1007/s12250-013-3314-9, PubMed 23575734
  58. Tao XY, Tang Q, Rayner S, Guo ZY, Li H, Lang SL, Yin CP, Han N, Fang W, Adams J, Song M, Liang GD (2013)
    Molecular phylodynamic analysis indicates lineage displacement occurred in Chinese rabies epidemics between 1949 to 2010
    PLoS Negl Trop Dis, 7 (7), e2294
    DOI 10.1371/journal.pntd.0002294, PubMed 23875035
  59. Teruel M, McKinney C, Balsa A, Pascual-Salcedo D, Rodriguez-Rodriguez L, Ortiz AM, Gómez-Vaquero C, González-Gay MA, Smith M, Witte T, Merriman T, Lie BA, Martin J (2013)
    Association of CD247 polymorphisms with rheumatoid arthritis: a replication study and a meta-analysis
    PLoS One, 8 (7), e68295
    DOI 10.1371/journal.pone.0068295, PubMed 23861880
  60. Tesli M, Egeland R, Sønderby IE, Haukvik UK, Bettella F, Hibar DP, Thompson PM, Rimol LM, Melle I, Agartz I, Djurovic S, Andreassen OA (2013)
    No evidence for association between bipolar disorder risk gene variants and brain structural phenotypes
    J Affect Disord, 151 (1), 291-7
    DOI 10.1016/j.jad.2013.06.008, PubMed 23820096
  61. Tesli M, Skatun KC, Ousdal OT, Brown AA, Thoresen C, Agartz I, Melle I, Djurovic S, Jensen J, Andreassen OA (2013)
    CACNA1C risk variant and amygdala activity in bipolar disorder, schizophrenia and healthy controls
    PLoS One, 8 (2), e56970
    DOI 10.1371/journal.pone.0056970, PubMed 23437284
  62. Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M et al. (2013)
    Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
    Nat Genet, 46 (2), 107-115
    DOI 10.1038/ng.2854, PubMed 24362816
  63. Torjussen TM, Munthe-Kaas MC, Mowinckel P, Carlsen KH, Undlien DE, Lødrup Carlsen KC (2013)
    Childhood lung function and the association with β2-adrenergic receptor haplotypes
    Acta Paediatr, 102 (7), 727-31
    DOI 10.1111/apa.12221, PubMed 23463918
  64. Tveten K, Strøm TB, Berge KE, Leren TP (2013)
    PCSK9-mediated degradation of the LDL receptor generates a 17 kDa C-terminal LDL receptor fragment
    J Lipid Res, 54 (6), 1560-6
    DOI 10.1194/jlr.M034371, PubMed 23509406
  65. Valentini A, Lubinski J, Byrski T, Ghadirian P, Moller P, Lynch HT, Ainsworth P, Neuhausen SL, Weitzel J, Singer CF, Olopade OI, Saal H, Lyonnet DS, Foulkes WD, Kim-Sing C, Manoukian S, Zakalik D, Armel S, Senter L, Eng C, Grunfeld E, Chiarelli AM, Poll A, Sun P, Narod SA et al. (2013)
    The impact of pregnancy on breast cancer survival in women who carry a BRCA1 or BRCA2 mutation
    Breast Cancer Res Treat, 142 (1), 177-85
    DOI 10.1007/s10549-013-2729-1, PubMed 24136669
  66. Vang T, Landskron J, Viken MK, Oberprieler N, Torgersen KM, Mustelin T, Tasken K, Tautz L, Rickert RC, Lie BA (2013)
    The autoimmune-predisposing variant of lymphoid tyrosine phosphatase favors T helper 1 responses
    Hum Immunol, 74 (5), 574-85
    DOI 10.1016/j.humimm.2012.12.017, PubMed 23333624
  67. Vasen HF, Blanco I, Aktan-Collan K, Gopie JP, Alonso A, Aretz S, Bernstein I, Bertario L, Burn J, Capella G, Colas C, Engel C, Frayling IM, Genuardi M, Heinimann K, Hes FJ, Hodgson SV, Karagiannis JA, Lalloo F, Lindblom A, Mecklin JP, Møller P, Myrhoj T, Nagengast FM, Parc Y et al. (2013)
    Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts
    Gut, 62 (6), 812-23
    DOI 10.1136/gutjnl-2012-304356, PubMed 23408351
  68. Vigeland MD, Spannagl M, Asp T, Paina C, Rudi H, Rognli OA, Fjellheim S, Sandve SR (2013)
    Evidence for adaptive evolution of low-temperature stress response genes in a Pooideae grass ancestor
    New Phytol, 199 (4), 1060-8
    DOI 10.1111/nph.12337, PubMed 23701123
  69. Wang L, Wu H, Tao X, Li H, Rayner S, Liang G, Tang Q (2013)
    Genetic and evolutionary characterization of RABVs from China using the phosphoprotein gene
    Virol J, 10, 14
    DOI 10.1186/1743-422X-10-14, PubMed 23294868
  70. Wangensteen T, Retterstøl L, Rødningen OK, Hjelmesaeth J, Aukrust P, Halvorsen B (2013)
    De novo 19p13.2 microdeletion encompassing the insulin receptor and resistin genes in a patient with obesity and learning disability
    Am J Med Genet A, 161A (6), 1480-6
    DOI 10.1002/ajmg.a.35927, PubMed 23637016
  71. Weedon-Fekjær MS, Sheng Y, Herse F, Lyle R, Sugulle M, Dechend R, Staff AC (2013)
    OP008. Different dysregulation of placental mirnas in early- and late-onset preeclampsia
    Pregnancy Hypertens, 3 (2), 65
    DOI 10.1016/j.preghy.2013.04.024, PubMed 26105854
  72. White HE, Hedges J, Bendit I, Branford S, Colomer D, Hochhaus A, Hughes T, Kamel-Reid S, Kim DW, Modur V, Müller MC, Pagnano KB, Pane F, Radich J, Cross NC, Labourier E (2013)
    Establishment and validation of analytical reference panels for the standardization of quantitative BCR-ABL1 measurements on the international scale
    Clin Chem, 59 (6), 938-48
    DOI 10.1373/clinchem.2012.196477, PubMed 23471097
  73. Wu H, Wang L, Tao X, Li H, Rayner S, Liang G, Tang Q (2013)
    Genetic diversity and molecular evolution of the rabies virus matrix protein gene in China
    Infect Genet Evol, 16, 248-53
    DOI 10.1016/j.meegid.2013.02.009, PubMed 23453987
  74. Yang CQ, Miao LF, Pan X, Wu CC, Rayner S, Mocarski ES, Ye HQ, Luo MH (2013)
    Natural antisense transcripts of UL123 packaged in human cytomegalovirus virions
    Arch Virol, 159 (1), 147-51
    DOI 10.1007/s00705-013-1793-5, PubMed 23884634
  75. Yasmeen S, Lund K, De Paepe A, De Bie S, Heiberg A, Silva J, Martins M, Skjørringe T, Møller LB (2013)
    Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon
    Eur J Hum Genet, 22 (4), 517-21
    DOI 10.1038/ejhg.2013.191, PubMed 24002164
  76. Ye Y, Wei B, Wen L, Rayner S (2013)
    BlastGraph: a comparative genomics tool based on BLAST and graph algorithms
    Bioinformatics, 29 (24), 3222-4
    DOI 10.1093/bioinformatics/btt553, PubMed 24068035
  77. Zhou Z, Deng F, Han N, Wang H, Sun S, Zhang Y, Hu Z, Rayner S (2013)
    Reassortment and migration analysis of Crimean-Congo haemorrhagic fever virus
    J Gen Virol, 94 (Pt 11), 2536-48
    DOI 10.1099/vir.0.056374-0, PubMed 23939975
  78. Ørstavik KH (2013)
    [Genetic self-tests]
    Tidsskr Nor Laegeforen, 133 (14), 1427
    DOI 10.4045/tidsskr.13.0812, PubMed 23929282
  79. Ørstavik KH (2013)
    [Gene therapy--an eagerly awaited breakthrough]
    Tidsskr Nor Laegeforen, 133 (8), 823
    DOI 10.4045/tidsskr.13.0315, PubMed 23612087
  80. Østertun Geirdal A, Øverland B, Heimdal K, Storhaug K, Asten P, Akre H (2013)
    Association between obstructive sleep apnea and health-related quality of life in individuals affected with Treacher Collins syndrome
    Eur Arch Otorhinolaryngol, 270 (11), 2879-84
    DOI 10.1007/s00405-013-2409-0, PubMed 23455582
  81. Aas M, Haukvik UK, Djurovic S, Bergmann Ø, Athanasiu L, Tesli MS, Hellvin T, Steen NE, Agartz I, Lorentzen S, Sundet K, Andreassen OA, Melle I (2013)
    BDNF val66met modulates the association between childhood trauma, cognitive and brain abnormalities in psychoses
    Prog Neuropsychopharmacol Biol Psychiatry, 46, 181-8
    DOI 10.1016/j.pnpbp.2013.07.008, PubMed 23876786

Publications 2012

  1. Abildgaard U, Heimdal K (2012)
    Pathogenesis of the syndrome of hemolysis, elevated liver enzymes, and low platelet count (HELLP): a review
    Eur J Obstet Gynecol Reprod Biol, 166 (2), 117-23
    DOI 10.1016/j.ejogrb.2012.09.026, PubMed 23107053
  2. Adams JT, Gray DJ, Rayner S (2012)
    Observation of non-principal plane neutral points in the upwelling polarized light field above a water surface
    Appl Opt, 51 (22), 5387-91
    DOI 10.1364/AO.51.005387, PubMed 22859026
  3. Bailey-Wilson JE, Childs EJ, Cropp CD, Schaid DJ, Xu J, Camp NJ, Cannon-Albright LA, Farnham JM, George A, Powell I, Carpten JD, Giles GG, Hopper JL, Severi G, English DR, Foulkes WD, Mæhle L, Møller P, Eeles R, Easton D, Guy M, Edwards S, Badzioch MD, Whittemore AS, Oakley-Girvan I et al. (2012)
    Analysis of Xq27-28 linkage in the international consortium for prostate cancer genetics (ICPCG) families
    BMC Med Genet, 13, 46
    DOI 10.1186/1471-2350-13-46, PubMed 22712434
  4. Bakken TE, Roddey JC, Djurovic S, Akshoomoff N, Amaral DG, Bloss CS, Casey BJ, Chang L, Ernst TM, Gruen JR, Jernigan TL, Kaufmann WE, Kenet T, Kennedy DN, Kuperman JM, Murray SS, Sowell ER, Rimol LM, Mattingsdal M, Melle I, Agartz I, Andreassen OA, Schork NJ, Dale AM, Alzheimer's Disease Neuroimaging Initiative et al. (2012)
    Association of common genetic variants in GPCPD1 with scaling of visual cortical surface area in humans
    Proc Natl Acad Sci U S A, 109 (10), 3985-90
    DOI 10.1073/pnas.1105829109, PubMed 22343285
  5. Belengeanu D, Bratu C, Stoian M, Motoc A, Ormerod E, Podariu AC, Farcaş S, Andreescu N (2012)
    The heterogeneity of craniofacial morphology in Prader-Willi patients
    Rom J Morphol Embryol, 53 (3), 527-32
    PubMed 22990543
  6. Bisschoff IJ, Zeschnigk C, Horn D, Wellek B, Rieß A, Wessels M, Willems P, Jensen P, Busche A, Bekkebraten J, Chopra M, Hove HD, Evers C, Heimdal K, Kaiser AS, Kunstmann E, Robinson KL, Linné M, Martin P, McGrath J, Pradel W, Prescott KE, Roesler B, Rudolf G, Siebers-Renelt U et al. (2012)
    Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability
    Hum Mutat, 34 (1), 237-47
    DOI 10.1002/humu.22224, PubMed 23033313
  7. Bjørnslett M, Knappskog S, Lønning PE, Dørum A (2012)
    Effect of the MDM2 promoter polymorphisms SNP309T>G and SNP285G>C on the risk of ovarian cancer in BRCA1 mutation carriers
    BMC Cancer, 12, 454
    DOI 10.1186/1471-2407-12-454, PubMed 23039163
  8. Bober MB, Niiler T, Duker AL, Murray JE, Ketterer T, Harley ME, Alvi S, Flora C, Rustad C, Bongers EM, Bicknell LS, Wise C, Jackson AP (2012)
    Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations
    Am J Med Genet A, 158A (11), 2719-25
    DOI 10.1002/ajmg.a.35447, PubMed 22821869
  9. Brown AA, Jensen J, Nikolova YS, Djurovic S, Agartz I, Server A, Ferrell RE, Manuck SB, Mattingsdal M, Melle I, Hariri AR, Frigessi A, Andreassen OA (2012)
    Genetic variants affecting the neural processing of human facial expressions: evidence using a genome-wide functional imaging approach
    Transl Psychiatry, 2, e143
    DOI 10.1038/tp.2012.67, PubMed 22828495
  10. Callewaert B, Su CT, Van Damme T, Vlummens P, Malfait F, Vanakker O, Schulz B, Mac Neal M, Davis EC, Lee JG, Salhi A, Unger S, Heimdal K, De Almeida S, Kornak U, Gaspar H, Bresson JL, Prescott K, Gosendi ME, Mansour S, Piérard GE, Madan-Khetarpal S, Sciurba FC, Symoens S, Coucke PJ et al. (2012)
    Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa
    Hum Mutat, 34 (1), 111-21
    DOI 10.1002/humu.22165, PubMed 22829427
  11. Cameron J, Bogsrud MP, Tveten K, Strøm TB, Holven K, Berge KE, Leren TP (2012)
    Serum levels of proprotein convertase subtilisin/kexin type 9 in subjects with familial hypercholesterolemia indicate that proprotein convertase subtilisin/kexin type 9 is cleared from plasma by low-density lipoprotein receptor-independent pathways
    Transl Res, 160 (2), 125-30
    DOI 10.1016/j.trsl.2012.01.010, PubMed 22683370
  12. Christoforou A, Dondrup M, Mattingsdal M, Mattheisen M, Giddaluru S, Nöthen MM, Rietschel M, Cichon S, Djurovic S, Andreassen OA, Jonassen I, Steen VM, Puntervoll P, Le Hellard S (2012)
    Linkage-disequilibrium-based binning affects the interpretation of GWASs
    Am J Hum Genet, 90 (4), 727-33
    DOI 10.1016/j.ajhg.2012.02.025, PubMed 22444669
  13. Colman JE, Lilleeng MS, Tsegaye D, Vigeland MD, Reimers E (2012)
    Responses of wild reindeer (Rangifer tarandus tarandus) when provoked by a snow-kiter or skier: A model approach
    Appl. Anim. Behav. Sci., 142 (1-2), 82-89
  14. Cortes J, Goldman JM, Hughes T (2012)
    Current issues in chronic myeloid leukemia: monitoring, resistance, and functional cure
    J Natl Compr Canc Netw, 10 Suppl 3, S1-S13
    DOI 10.6004/jnccn.2012.0184, PubMed 23055247
  15. Daha NA, Lie BA, Trouw LA, Stoeken G, Schonkeren JJ, Ding B, Kvien TK, Schilham MW, Padyukov L, Huizinga TW, Toes R (2012)
    Novel genetic association of the VTCN1 region with rheumatoid arthritis
    Ann Rheum Dis, 71 (4), 567-71
    DOI 10.1136/annrheumdis-2011-200574, PubMed 22323440
  16. Daniel PB, Morgan T, Alanay Y, Bijlsma E, Cho TJ, Cole T, Collins F, David A, Devriendt K, Faivre L, Ikegawa S, Jacquemont S, Jesic M, Krakow D, Liebrecht D, Maitz S, Marlin S, Morin G, Nishikubo T, Nishimura G, Prescott T, Scarano G, Shafeghati Y, Skovby F, Tsutsumi S et al. (2012)
    Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity
    Hum Mutat, 33 (4), 665-73
    DOI 10.1002/humu.22012, PubMed 22190451
  17. Dheyauldeen S, Østertun Geirdal A, Osnes T, Vartdal LS, Dollner R (2012)
    Bevacizumab in hereditary hemorrhagic telangiectasia-associated epistaxis: effectiveness of an injection protocol based on the vascular anatomy of the nose
    Laryngoscope, 122 (6), 1210-4
    DOI 10.1002/lary.23303, PubMed 22565282
  18. Dieset I, Djurovic S, Tesli M, Hope S, Mattingsdal M, Michelsen A, Joa I, Larsen TK, Agartz I, Melle I, Røssberg JI, Aukrust P, Andreassen OA, Ueland T (2012)
    Up-regulation of NOTCH4 gene expression in bipolar disorder
    Am J Psychiatry, 169 (12), 1292-300
    DOI 10.1176/appi.ajp.2012.11091431, PubMed 23212060
  19. Duan Y, Miao L, Ye H, Yang C, Fu B, Schwartz PH, Rayner S, Fortunato EA, Luo MH (2012)
    A faster immunofluorescence assay for tracking infection progress of human cytomegalovirus
    Acta Biochim Biophys Sin (Shanghai), 44 (7), 597-605
    DOI 10.1093/abbs/gms041, PubMed 22659494
  20. Eike MC, Skinningsrud B, Ronninger M, Stormyr A, Kvien TK, Joner G, Njølstad PR, Førre O, Flatø B, Alfredsson L, Padyukov L, Undlien DE, Lie BA (2012)
    CIITA gene variants are associated with rheumatoid arthritis in Scandinavian populations
    Genes Immun, 13 (5), 431-6
    DOI 10.1038/gene.2012.11, PubMed 22513452
  21. Ersland KM, Christoforou A, Stansberg C, Espeseth T, Mattheisen M, Mattingsdal M, Hardarson GA, Hansen T, Fernandes CP, Giddaluru S, Breuer R, Strohmaier J, Djurovic S, Nöthen MM, Rietschel M, Lundervold AJ, Werge T, Cichon S, Andreassen OA, Reinvang I, Steen VM, Le Hellard S (2012)
    Gene-based analysis of regionally enriched cortical genes in GWAS data sets of cognitive traits and psychiatric disorders
    PLoS One, 7 (2), e31687
    DOI 10.1371/journal.pone.0031687, PubMed 22384057
  22. Floor K, Barøy T, Misceo D, Kanavin OJ, Fannemel M, Frengen E (2012)
    A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features
    Eur J Med Genet, 55 (12), 695-9
    DOI 10.1016/j.ejmg.2012.08.002, PubMed 22986108
  23. Forsberg LA, Rasi C, Razzaghian HR, Pakalapati G, Waite L, Thilbeault KS, Ronowicz A, Wineinger NE, Tiwari HK, Boomsma D, Westerman MP, Harris JR, Lyle R, Essand M, Eriksson F, Assimes TL, Iribarren C, Strachan E, O'Hanlon TP, Rider LG, Miller FW, Giedraitis V, Lannfelt L, Ingelsson M, Piotrowski A et al. (2012)
    Age-related somatic structural changes in the nuclear genome of human blood cells
    Am J Hum Genet, 90 (2), 217-28
    DOI 10.1016/j.ajhg.2011.12.009, PubMed 22305530
  24. Geirdal AØ, Dheyauldeen S, Bachmann-Harildstad G, Heimdal K (2012)
    Quality of life in patients with hereditary hemorrhagic telangiectasia in Norway: a population based study
    Am J Med Genet A, 158A (6), 1269-78
    DOI 10.1002/ajmg.a.35309, PubMed 22529055
  25. Geirdal AØ, Dheyauldeen S, Bachmann-Harildstad G, Heimdal K (2012)
    Living with hereditary haemorrhagic telangiectasia: coping and psychological distress - a cross-sectional study
    Disabil Rehabil, 35 (3), 206-13
    DOI 10.3109/09638288.2012.690500, PubMed 22671535
  26. Gervin K, Vigeland MD, Mattingsdal M, Hammerø M, Nygård H, Olsen AO, Brandt I, Harris JR, Undlien DE, Lyle R (2012)
    DNA methylation and gene expression changes in monozygotic twins discordant for psoriasis: identification of epigenetically dysregulated genes
    PLoS Genet, 8 (1), e1002454
    DOI 10.1371/journal.pgen.1002454, PubMed 22291603
  27. Gilfillan GD, Hughes T, Sheng Y, Hjorthaug HS, Straub T, Gervin K, Harris JR, Undlien DE, Lyle R (2012)
    Limitations and possibilities of low cell number ChIP-seq
    BMC Genomics, 13, 645
    DOI 10.1186/1471-2164-13-645, PubMed 23171294
  28. Hamfjord J, Stangeland AM, Hughes T, Skrede ML, Tveit KM, Ikdahl T, Kure EH (2012)
    Differential expression of miRNAs in colorectal cancer: comparison of paired tumor tissue and adjacent normal mucosa using high-throughput sequencing
    PLoS One, 7 (4), e34150
    DOI 10.1371/journal.pone.0034150, PubMed 22529906
  29. Hansen JS, Nygaard UC, Lyle R, Lovik M (2012)
    Early life interventions to prevent allergy in the offspring: the role of maternal immunization and postnatal mucosal allergen exposure
    Int Arch Allergy Immunol, 158 (3), 261-75
    DOI 10.1159/000332963, PubMed 22398405
  30. Harbo HF, Mero IL (2012)
    From genes to characteristics of multiple sclerosis
    Acta Neurol Scand Suppl (195), 76-83
    DOI 10.1111/ane.12027, PubMed 23278661
  31. Hekman KE, Yu GY, Brown CD, Zhu H, Du X, Gervin K, Undlien DE, Peterson A, Stevanin G, Clark HB, Pulst SM, Bird TD, White KP, Gomez CM (2012)
    A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult
    Hum Mol Genet, 21 (26), 5472-83
    DOI 10.1093/hmg/dds392, PubMed 23001565
  32. Hercus TR, Broughton SE, Ekert PG, Ramshaw HS, Perugini M, Grimbaldeston M, Woodcock JM, Thomas D, Pitson S, Hughes T, D'Andrea RJ, Parker MW, Lopez AF (2012)
    The GM-CSF receptor family: mechanism of activation and implications for disease
    Growth Factors, 30 (2), 63-75
    DOI 10.3109/08977194.2011.649919, PubMed 22257375
  33. Hou D, Zhang L, Deng F, Fang W, Wang R, Liu X, Guo L, Rayner S, Chen X, Wang H, Hu Z (2012)
    Comparative proteomics reveal fundamental structural and functional differences between the two progeny phenotypes of a baculovirus
    J Virol, 87 (2), 829-39
    DOI 10.1128/JVI.02329-12, PubMed 23115289
  34. Hu C, Xiong N, Zhang Y, Rayner S, Chen S (2012)
    Functional characterization of lipase in the pathogenesis of Staphylococcus aureus
    Biochem Biophys Res Commun, 419 (4), 617-20
    DOI 10.1016/j.bbrc.2012.02.057, PubMed 22369949
  35. Hu Y, Feng L, Li Y, Zhang Y, Lu P, Rayner S, Chen S (2012)
    Ribosomal binding site switching: an effective strategy for high-throughput cloning constructions
    PLoS One, 7 (11), e50142
    DOI 10.1371/journal.pone.0050142, PubMed 23185557
  36. Huanyu W, Haiyan W, Shihong F, Guifang L, Hong L, Xiaoyan G, Lizhi S, Rayner S, Aiqiang X, Guodong L (2012)
    Isolation and identification of a distinct strain of Culex Flavivirus from mosquitoes collected in Mainland China
    Virol J, 9, 73
    DOI 10.1186/1743-422X-9-73, PubMed 22452813
  37. Isaksen J, Bryn V, Diseth TH, Heiberg A, Schjølberg S, Skjeldal OH (2012)
    Children with autism spectrum disorders - the importance of medical investigations
    Eur J Paediatr Neurol, 17 (1), 68-76
    DOI 10.1016/j.ejpn.2012.08.004, PubMed 22954514
  38. Kleefstra T, Kramer JM, Neveling K, Willemsen MH, Koemans TS, Vissers LE, Wissink-Lindhout W, Fenckova M, van den Akker WM, Kasri NN, Nillesen WM, Prescott T, Clark RD, Devriendt K, van Reeuwijk J, de Brouwer AP, Gilissen C, Zhou H, Brunner HG, Veltman JA, Schenck A, van Bokhoven H (2012)
    Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability
    Am J Hum Genet, 91 (1), 73-82
    DOI 10.1016/j.ajhg.2012.05.003, PubMed 22726846
  39. Knappskog S, Gansmo LB, Romundstad P, Bjørnslett M, Trovik J, Sommerfelt-Pettersen J, Løkkevik E, Norwegian Breast Cancer Group trial NBCG VI, Tollenaar RA, Seynaeve C, Devilee P, Salvesen HB, Dørum A, Hveem K, Vatten L, Lønning PE (2012)
    MDM2 promoter SNP344T>A (rs1196333) status does not affect cancer risk
    PLoS One, 7 (4), e36263
    DOI 10.1371/journal.pone.0036263, PubMed 22558411
  40. Kähler AK, Rimol LM, Brown AA, Djurovic S, Hartberg CB, Melle I, Dale AM, Andreassen OA, Agartz I (2012)
    Effect of DISC1 SNPs on brain structure in healthy controls and patients with a history of psychosis
    Am J Med Genet B Neuropsychiatr Genet, 159B (6), 722-30
    DOI 10.1002/ajmg.b.32076, PubMed 22815203
  41. Larsen MK, Berge KE, Leren TP, Nissen PH, Hansen J, Kristensen IB, Banner J, Jensen HK (2012)
    Postmortem genetic testing of the ryanodine receptor 2 (RYR2) gene in a cohort of sudden unexplained death cases
    Int J Legal Med, 127 (1), 139-44
    DOI 10.1007/s00414-011-0658-2, PubMed 22222782
  42. Leidenroth A, Sorte HS, Gilfillan G, Ehrlich M, Lyle R, Hewitt JE (2012)
    Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis
    Eur J Hum Genet, 20 (9), 999-1003
    DOI 10.1038/ejhg.2012.42, PubMed 22378277
  43. Lu P, Zhang Y, Li L, Hu Y, Huang L, Li Y, Rayner S, Chen S (2012)
    Small non-coding RNA SraG regulates the operon YPK_1206-1205 in Yersinia pseudotuberculosis
    FEMS Microbiol Lett, 331 (1), 37-43
    DOI 10.1111/j.1574-6968.2012.02548.x, PubMed 22428705
  44. Lund C, Bremer A, Lossius MI, Selmer KK, Brodtkorb E, Nakken KO (2012)
    [Dravet syndrome as a cause of epilepsy and learning disability]
    Tidsskr Nor Laegeforen, 132 (1), 44-7
    DOI 10.4045/tidsskr.11.0539, PubMed 22240828
  45. Maniaol AH, Elsais A, Lorentzen ÅR, Owe JF, Viken MK, Sæther H, Flåm ST, Bråthen G, Kampman MT, Midgard R, Christensen M, Rognerud A, Kerty E, Gilhus NE, Tallaksen CM, Lie BA, Harbo HF (2012)
    Late onset myasthenia gravis is associated with HLA DRB1*15:01 in the Norwegian population
    PLoS One, 7 (5), e36603
    DOI 10.1371/journal.pone.0036603, PubMed 22590574
  46. Marduel M, Ouguerram K, Serre V, Bonnefont-Rousselot D, Marques-Pinheiro A, Erik Berge K, Devillers M, Luc G, Lecerf JM, Tosolini L, Erlich D, Peloso GM, Stitziel N, Nitchké P, Jaïs JP, French Research Network on ADH, Abifadel M, Kathiresan S, Leren TP, Rabès JP, Boileau C, Varret M (2012)
    Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation
    Hum Mutat, 34 (1), 83-7
    DOI 10.1002/humu.22215, PubMed 22949395
  47. Mattingsdal M, Brown AA, Djurovic S, Sønderby IE, Server A, Melle I, Agartz I, Hovig E, Jensen J, Andreassen OA (2012)
    Pathway analysis of genetic markers associated with a functional MRI faces paradigm implicates polymorphisms in calcium responsive pathways
    Neuroimage, 70, 143-9
    DOI 10.1016/j.neuroimage.2012.12.035, PubMed 23274185
  48. Mellerup E, Andreassen O, Bennike B, Dam H, Djurovic S, Hansen T, Melle I, Møller GL, Mors O, Koefoed P (2012)
    Connection between genetic and clinical data in bipolar disorder
    PLoS One, 7 (9), e44623
    DOI 10.1371/journal.pone.0044623, PubMed 23028568
  49. Misceo D, Barøy T, Helle JR, Braaten O, Fannemel M, Frengen E (2012)
    1.5Mb deletion of chromosome 4p16.3 associated with postnatal growth delay, psychomotor impairment, epilepsy, impulsive behavior and asynchronous skeletal development
    Gene, 507 (1), 85-91
    DOI 10.1016/j.gene.2012.07.021, PubMed 22842548
  50. Munthe-Kaas MC, Bertelsen RJ, Torjussen TM, Hjorthaug HS, Undlien DE, Lyle R, Gervin K, Granum B, Mowinckel P, Carlsen KH, Carlsen KC (2012)
    Pet keeping and tobacco exposure influence CD14 methylation in childhood
    Pediatr Allergy Immunol, 23 (8), 747-54
    DOI 10.1111/pai.12021, PubMed 23194293
  51. Møller P, Maehle L, Vabø A, Clark N, Sun P, Narod SA (2012)
    Age-specific incidence rates for breast cancer in carriers of BRCA1 mutations from Norway
    Clin Genet, 83 (1), 88-91
    DOI 10.1111/j.1399-0004.2012.01855.x, PubMed 22320316
  52. Nakasone ES, Askautrud HA, Kees T, Park JH, Plaks V, Ewald AJ, Fein M, Rasch MG, Tan YX, Qiu J, Park J, Sinha P, Bissell MJ, Frengen E, Werb Z, Egeblad M (2012)
    Imaging tumor-stroma interactions during chemotherapy reveals contributions of the microenvironment to resistance
    Cancer Cell, 21 (4), 488-503
    DOI 10.1016/j.ccr.2012.02.017, PubMed 22516258
  53. Nieuwenhuis MH, Kets CM, Murphy-Ryan M, Colas C, Möller P, Hes FJ, Hodgson SV, Olderode-Berends MJ, Aretz S, Heinimann K, Gomez Garcia EB, Douglas F, Spigelman A, Timshel S, Lindor NM, Vasen HF (2012)
    Is colorectal surveillance indicated in patients with PTEN mutations?
    Colorectal Dis, 14 (9), e562-6
    DOI 10.1111/j.1463-1318.2012.03121.x, PubMed 22672595
  54. Nilsen TS, Knudsen GP, Gervin K, Brandt I, Røysamb E, Tambs K, Orstavik R, Lyle R, Reichborn-Kjennerud T, Magnus P, Harris JR (2012)
    The Norwegian Twin Registry from a public health perspective: a research update
    Twin Res Hum Genet, 16 (1), 285-95
    DOI 10.1017/thg.2012.117, PubMed 23186607
  55. Nordang GB, Carpenter D, Viken MK, Kvien TK, Armour JA, Lie BA (2012)
    Association analysis of the CCL3L1 copy number locus by paralogue ratio test in Norwegian rheumatoid arthritis patients and healthy controls
    Genes Immun, 13 (7), 579-82
    DOI 10.1038/gene.2012.30, PubMed 22785612
  56. Omair A, Lie BA, Reikeras O, Brox JI (2012)
    An Association Study of Interleukin 18 Receptor Genes (IL18R1 and IL18RAP) in Lumbar Disc Degeneration
    Open Orthop J, 6, 164-71
    DOI 10.2174/1874325001206010164, PubMed 22550553
  57. Omair A, Lie BA, Reikeras O, Holden M, Brox JI (2012)
    Genetic contribution of catechol-O-methyltransferase variants in treatment outcome of low back pain: a prospective genetic association study
    BMC Musculoskelet Disord, 13, 76
    DOI 10.1186/1471-2474-13-76, PubMed 22612913
  58. Qin B, Budeus B, Cao L, Wu C, Wang Y, Zhang X, Rayner S, Hoffmann D, Lu M, Chen X (2012)
    The amino acid substitutions rtP177G and rtF249A in the reverse transcriptase domain of hepatitis B virus polymerase reduce the susceptibility to tenofovir
    Antiviral Res, 97 (2), 93-100
    DOI 10.1016/j.antiviral.2012.12.007, PubMed 23261845
  59. Rice GI, Kasher PR, Forte GM, Mannion NM, Greenwood SM, Szynkiewicz M, Dickerson JE, Bhaskar SS, Zampini M, Briggs TA, Jenkinson EM, Bacino CA, Battini R, Bertini E, Brogan PA, Brueton LA, Carpanelli M, De Laet C, de Lonlay P, del Toro M, Desguerre I, Fazzi E, Garcia-Cazorla A, Heiberg A, Kawaguchi M et al. (2012)
    Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
    Nat Genet, 44 (11), 1243-8
    DOI 10.1038/ng.2414, PubMed 23001123
  60. Ronninger M, Seddighzadeh M, Eike MC, Plant D, Daha NA, Skinningsrud B, Worthington J, Kvien TK, Toes RE, Lie BA, Alfredsson L, Padyukov L (2012)
    Interaction analysis between HLA-DRB1 shared epitope alleles and MHC class II transactivator CIITA gene with regard to risk of rheumatoid arthritis
    PLoS One, 7 (3), e32861
    DOI 10.1371/journal.pone.0032861, PubMed 22461888
  61. Rønningen KS, Yap SE, Brandal K, Stormyr A, Lie BA, Rasmussen T, Stray-Pedersen B, Akselsen HE (2012)
    HLA-DRB1, -DQA1 and -DQB1 alleles and haplotypes in first-generation Pakistani immigrants in Norway
    Scand J Immunol, 75 (4), 426-30
    DOI 10.1111/j.1365-3083.2011.02669.x, PubMed 22171671
  62. Selmer KK, Bryne E, Rødningen OK, Fannemel M (2012)
    A de novo 163 kb interstitial 1q44 microdeletion in a boy with thin corpus callosum, psychomotor delay and seizures
    Eur J Med Genet, 55 (12), 715-8
    DOI 10.1016/j.ejmg.2012.08.005, PubMed 22975012
  63. Skretting G, Iversen N, Myklebust CF, Dahm AE, Sandset PM (2012)
    Overexpression of tissue factor pathway inhibitor in CHO-K1 cells results in increased activation of NF-κB and apoptosis mediated by a caspase-3 independent pathway
    Mol Biol Rep, 39 (12), 10089-96
    DOI 10.1007/s11033-012-1882-7, PubMed 22932941
  64. Slavotinek AM, Mehrotra P, Nazarenko I, Tang PL, Lao R, Cameron D, Li B, Chu C, Chou C, Marqueling AL, Yahyavi M, Cordoro K, Frieden I, Glaser T, Prescott T, Morren MA, Devriendt K, Kwok PY, Petkovich M, Desnick RJ (2012)
    Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1
    Hum Mol Genet, 22 (4), 696-703
    DOI 10.1093/hmg/dds477, PubMed 23161670
  65. Smith MJ, Wallace AJ, Bowers NL, Rustad CF, Woods CG, Leschziner GD, Ferner RE, Evans DG (2012)
    Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis
    Neurogenetics, 13 (2), 141-5
    DOI 10.1007/s10048-012-0319-8, PubMed 22434358
  66. Sorte H, Mørkrid L, Rødningen O, Kulseth MA, Stray-Pedersen A, Matthijs G, Race V, Houge G, Fiskerstrand T, Bjurulf B, Lyle R, Prescott T (2012)
    Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes
    Eur J Med Genet, 55 (3), 196-202
    DOI 10.1016/j.ejmg.2012.01.003, PubMed 22306853
  67. Squadrito ML, Pucci F, Magri L, Moi D, Gilfillan GD, Ranghetti A, Casazza A, Mazzone M, Lyle R, Naldini L, De Palma M (2012)
    miR-511-3p modulates genetic programs of tumor-associated macrophages
    Cell Rep, 1 (2), 141-54
    DOI 10.1016/j.celrep.2011.12.005, PubMed 22832163
  68. Stavik B, Skretting G, Olstad OK, Sletten M, Dehli Vigeland M, Sandset PM, Iversen N (2012)
    TFPI alpha and beta regulate mRNAs and microRNAs involved in cancer biology and in the immune system in breast cancer cells
    PLoS One, 7 (10), e47184
    DOI 10.1371/journal.pone.0047184, PubMed 23071754
  69. Stein JL, Medland SE, Vasquez AA, Hibar DP, Senstad RE, Winkler AM, Toro R, Appel K, Bartecek R, Bergmann Ø, Bernard M, Brown AA, Cannon DM, Chakravarty MM, Christoforou A, Domin M, Grimm O, Hollinshead M, Holmes AJ, Homuth G, Hottenga JJ, Langan C, Lopez LM, Hansell NK, Hwang KS et al. (2012)
    Identification of common variants associated with human hippocampal and intracranial volumes
    Nat Genet, 44 (5), 552-61
    DOI 10.1038/ng.2250, PubMed 22504417
  70. Straub T, Zabel A, Gilfillan GD, Feller C, Becker PB (2012)
    Different chromatin interfaces of the Drosophila dosage compensation complex revealed by high-shear ChIP-seq
    Genome Res, 23 (3), 473-85
    DOI 10.1101/gr.146407.112, PubMed 23233545
  71. Syvertsen MR, Markhus R, Selmer KK, Nakken KO (2012)
    [Juvenile myoclonic epilepsy]
    Tidsskr Nor Laegeforen, 132 (14), 1610-3
    DOI 10.4045/tidsskr.11.1518, PubMed 22875125
  72. Talseth-Palmer BA, Wijnen JT, Brenne IS, Jagmohan-Changur S, Barker D, Ashton KA, Tops CM, Evans TJ, McPhillips M, Groombridge C, Suchy J, Kurzawski G, Dutch Cancer Genetics Group, Spigelman A, Møller P, Morreau HM, Van Wezel T, Lubinski J, Vasen HF, Scott RJ (2012)
    Combined analysis of three Lynch syndrome cohorts confirms the modifying effects of 8q23.3 and 11q23.1 in MLH1 mutation carriers
    Int J Cancer, 132 (7), 1556-64
    DOI 10.1002/ijc.27843, PubMed 22987364
  73. Tveten K, Strøm TB, Cameron J, Berge KE, Leren TP (2012)
    Mutations in the SORT1 gene are unlikely to cause autosomal dominant hypercholesterolemia
    Atherosclerosis, 225 (2), 370-5
    DOI 10.1016/j.atherosclerosis.2012.10.026, PubMed 23102784
  74. Undlien DE (2012)
    [Individual genome sequencing]
    Tidsskr Nor Laegeforen, 132 (3), 264
    DOI 10.4045/tidsskr.11.1490, PubMed 22314723
  75. Vang T, Liu WH, Delacroix L, Wu S, Vasile S, Dahl R, Yang L, Musumeci L, Francis D, Landskron J, Tasken K, Tremblay ML, Lie BA, Page R, Mustelin T, Rahmouni S, Rickert RC, Tautz L (2012)
    LYP inhibits T-cell activation when dissociated from CSK
    Nat Chem Biol, 8 (5), 437-46
    DOI 10.1038/nchembio.916, PubMed 22426112
  76. Vassos E, Steinberg S, Cichon S, Breen G, Sigurdsson E, Andreassen OA, Djurovic S, Morken G, Grigoroiu-Serbanescu M, Diaconu CC, Czerski PM, Hauser J, Babadjanova G, Abramova LI, Mühleisen TW, Nöthen MM, Rietschel M, McGuffin P, St Clair D, Gustafsson O, Melle I, Pietiläinen OP, Ruggeri M, Tosato S, Werge T et al. (2012)
    Replication study and meta-analysis in European samples supports association of the 3p21.1 locus with bipolar disorder
    Biol Psychiatry, 72 (8), 645-50
    DOI 10.1016/j.biopsych.2012.02.040, PubMed 22560537
  77. Wang L, Lv X, Zhai Y, Fu S, Wang D, Rayner S, Tang Q, Liang G (2012)
    Genomic characterization of a novel virus of the family Tymoviridae isolated from mosquitoes
    PLoS One, 7 (7), e39845
    DOI 10.1371/journal.pone.0039845, PubMed 22848363
  78. Winkel BG, Larsen MK, Berge KE, Leren TP, Nissen PH, Olesen MS, Hollegaard MV, Jespersen T, Yuan L, Nielsen N, Haunsø S, Svendsen JH, Wang Y, Kristensen IB, Jensen HK, Tfelt-Hansen J, Banner J (2012)
    The prevalence of mutations in KCNQ1, KCNH2, and SCN5A in an unselected national cohort of young sudden unexplained death cases
    J Cardiovasc Electrophysiol, 23 (10), 1092-8
    DOI 10.1111/j.1540-8167.2012.02371.x, PubMed 22882672
  79. Wirgenes KV, Sønderby IE, Haukvik UK, Mattingsdal M, Tesli M, Athanasiu L, Sundet K, Røssberg JI, Dale AM, Brown AA, Agartz I, Melle I, Djurovic S, Andreassen OA (2012)
    TCF4 sequence variants and mRNA levels are associated with neurodevelopmental characteristics in psychotic disorders
    Transl Psychiatry, 2, e112
    DOI 10.1038/tp.2012.39, PubMed 22832956
  80. Xu J, Lange EM, Lu L, Zheng SL, Wang Z, Thibodeau SN, Cannon-Albright LA, Teerlink CC, Camp NJ, Johnson AM, Zuhlke KA, Stanford JL, Ostrander EA, Wiley KE, Isaacs SD, Walsh PC, Maier C, Luedeke M, Vogel W, Schleutker J, Wahlfors T, Tammela T, Schaid D, McDonnell SK, DeRycke MS et al. (2012)
    HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICPCG)
    Hum Genet, 132 (1), 5-14
    DOI 10.1007/s00439-012-1229-4, PubMed 23064873
  81. Yin CP, Zhou H, Wu H, Tao XY, Rayner S, Wang SM, Tang Q, Liang GD (2012)
    Analysis on factors related to rabies epidemic in China from 2007-2011
    Virol Sin, 27 (2), 132-43
    DOI 10.1007/s12250-012-3244-y, PubMed 22492004
  82. Yu J, Li H, Tang Q, Rayner S, Han N, Guo Z, Liu H, Adams J, Fang W, Tao X, Wang S, Liang G (2012)
    The spatial and temporal dynamics of rabies in China
    PLoS Negl Trop Dis, 6 (5), e1640
    DOI 10.1371/journal.pntd.0001640, PubMed 22563518
  83. Yu PC, Noguchi A, Inoue S, Tang Q, Rayner S, Liang GD (2012)
    Comparison of RFFIT tests with different standard sera and testing procedures
    Virol Sin, 27 (3), 187-93
    DOI 10.1007/s12250-012-3247-8, PubMed 22684473
  84. Østern R, Fagerheim T, Ørstavik K, Holmøy T,