Biomedical research at Oslo University Hospital

Publications (original articles or review articles) published in 2019 from OUS - Department of Medical Genetics

96 publications found

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

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

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, 45 (6), 947-955
DOI 10.1038/s41386-019-0556-8, PubMed 31652432

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

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

Aslaksen S, Wolff AB, Vigeland MD, Breivik L, Sheng Y, Oftedal BE, Artaza H, Skinningsrud B, Undlien DE, Selmer KK, Husebye ES, Bratland E (2019)
Identification and characterization of rare toll-like receptor 3 variants in patients with autoimmune Addison's disease
J Transl Autoimmun, 1, 100005
DOI 10.1016/j.jtauto.2019.100005, PubMed 32743495

Baliakas P, Tesi B, Wartiovaara-Kautto U, Stray-Pedersen A, Friis LS, Dybedal I, Hovland R, Jahnukainen K, Raaschou-Jensen K, Ljungman P, Rustad CF, Lautrup CK, Kilpivaara O, Kittang AO, Grønbæk K, Cammenga J, Hellström-Lindberg E, Andersen MK (2019)
Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up
Hemasphere, 3 (6), e321
DOI 10.1097/HS9.0000000000000321, PubMed 31976490

Berger TC, Vigeland MD, Hjorthaug HS, Etholm L, Nome CG, Taubøll E, Heuser K, Selmer KK (2019)
Neuronal and glial DNA methylation and gene expression changes in early epileptogenesis
PLoS One, 14 (12), e0226575
DOI 10.1371/journal.pone.0226575, PubMed 31887157

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

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

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

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

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

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

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

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

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

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

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, 22 (1), 15-25
DOI 10.1038/s41436-019-0596-9, PubMed 31337882

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

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

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

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, 12 (1), e1465
DOI 10.1002/wsbm.1465, PubMed 31478357

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

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

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

Gamage TH, Lengle E, Gunnes G, Pullisaar H, Holmgren A, Reseland JE, Merckoll E, Corti S, Mizobuchi M, Morales RJ, Tsiokas L, Tjønnfjord GE, Lacruz RS, Lyngstadaas SP, Misceo D, Frengen E (2019)
STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone
Cell Calcium, 85, 102110
DOI 10.1016/j.ceca.2019.102110, PubMed 31785581

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

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

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

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, 17 (1), 75-86
DOI 10.1080/15476286.2019.1667741, PubMed 31559901

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

Henriksen MW, Breck H, von Tetzchner S, Paus B, Skjeldal OH (2019)
Medical Issues in Adults with Rett Syndrome - A National Survey
Dev Neurorehabil, 23 (2), 106-112
DOI 10.1080/17518423.2019.1646341, PubMed 31342829

Holtan JP, Selmer KK, Heimdal KR, Bragadóttir R (2019)
Inherited retinal disease in Norway - a characterization of current clinical and genetic knowledge
Acta Ophthalmol, 98 (3), 286-295
DOI 10.1111/aos.14218, PubMed 31429209

Jahic A, Günther S, Muschol N, Fossøy Stadheim B, Braaten Ø, Kjensli Hyldebrandt H, Kuiper GA, Tylee K, Wijburg FA, Beetz C (2019)
"Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay
Mol Genet Genomic Med, 7 (9), e00615
DOI 10.1002/mgg3.615, PubMed 31319022

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

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

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

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

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

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, Di 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

Khezri A, Narud B, Stenseth EB, Johannisson A, Myromslien FD, Gaustad AH, Wilson RC, Lyle R, Morrell JM, Kommisrud E, Ahmad R (2019)
DNA methylation patterns vary in boar sperm cells with different levels of DNA fragmentation
BMC Genomics, 20 (1), 897
DOI 10.1186/s12864-019-6307-8, PubMed 31775629

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

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

Krogh HW, Svendsen K, Igland J, Mundal LJ, Holven KB, Bogsrud MP, Leren TP, Retterstøl K (2019)
Lower risk of smoking-related cancer in individuals with familial hypercholesterolemia compared with controls: a prospective matched cohort study
Sci Rep, 9 (1), 19273
DOI 10.1038/s41598-019-55682-x, PubMed 31848411

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

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

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

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, 41 (1-2), 56-64
DOI 10.1002/elps.201900170, PubMed 31544246

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

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

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

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

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

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

Mármol-Sánchez E, Cirera S, Quintanilla R, Pla A, Amills M (2019)
Discovery and annotation of novel microRNAs in the porcine genome by using a semi-supervised transductive learning approach
Genomics, 112 (3), 2107-2118
DOI 10.1016/j.ygeno.2019.12.005, PubMed 31816430

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

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

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

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

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, 4 (11), 1156-1159
DOI 10.1001/jamacardio.2019.3903, PubMed 31617858

O'Connell KS, Shadrin A, Bahrami S, Smeland OB, Bettella F, Frei O, Krull F, Askeland RB, Walters GB, Davíðsdóttir K, Haraldsdóttir GS, Guðmundsson ÓÓ, Stefánsson H, Fan CC, Steen NE, Reichborn-Kjennerud T, Dale AM, Stefánsson K, Djurovic S, Andreassen OA (2019)
Identification of genetic overlap and novel risk loci for attention-deficit/hyperactivity disorder and bipolar disorder
Mol Psychiatry (in press)
DOI 10.1038/s41380-019-0613-z, PubMed 31792363

O'Connell KS, Shadrin A, Smeland OB, Bahrami S, Frei O, Bettella F, Krull F, Fan CC, Askeland RB, Knudsen GPS, Halmøy A, Steen NE, Ueland T, Walters GB, Davíðsdóttir K, Haraldsdóttir GS, Guðmundsson ÓÓ, Stefánsson H, Reichborn-Kjennerud T, Haavik J, Dale AM, Stefánsson K, Djurovic S, Andreassen OA (2019)
Identification of Genetic Loci Shared Between Attention-Deficit/Hyperactivity Disorder, Intelligence, and Educational Attainment
Biol Psychiatry, 87 (12), 1052-1062
DOI 10.1016/j.biopsych.2019.11.015, PubMed 32061372

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, 109 (1), 115-121
DOI 10.1111/apa.14936, PubMed 31299108

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

Pedersen S, Bliksrud YT, Selmer KK, Ramm-Pettersen A (2019)
Pyruvate dehydrogenase deficiency
Tidsskr. Nor. Laegeforen., 139 (15), 1473-1476

Pedersen S, Bliksrud YT, Selmer KK, Ramm-Pettersen A (2019)
Pyruvate dehydrogenase deficiency
Tidsskr Nor Laegeforen, 139 (15)
DOI 10.4045/tidsskr.18.0988, PubMed 31642628

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

Ramaswami U, Futema M, Bogsrud MP, Holven KB, Roeters van Lennep J, Wiegman A, Descamps OS, Vrablik M, Freiberger T, Dieplinger H, Greber-Platzer S, Hanauer-Mader G, Bourbon M, Drogari E, Humphries SE (2019)
Comparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries
Atherosclerosis, 292, 178-187
DOI 10.1016/j.atherosclerosis.2019.11.012, PubMed 31809987

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

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

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

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

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

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

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

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

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

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, 25 (4), 844-853
DOI 10.1038/s41380-018-0332-x, PubMed 30610197

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, 139 (1), 85-94
DOI 10.1007/s00439-019-02060-2, PubMed 31520123

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

Steen NE, Dieset I, Hope S, Vedal TSJ, Smeland OB, Matson W, Kaddurah-Daouk R, Agartz I, Melle I, Djurovic S, Jönsson EG, Bogdanov M, Andreassen OA (2019)
Metabolic dysfunctions in the kynurenine pathway, noradrenergic and purine metabolism in schizophrenia and bipolar disorders
Psychol Med, 50 (4), 595-606
DOI 10.1017/S0033291719000400, PubMed 30867076

Steineger J, Geirdal AØ, Osnes T, Heimdal KR, Dheyauldeen S (2019)
Intranasal bevacizumab injections improve quality of life in HHT patients
Laryngoscope, 130 (5), E284-E288
DOI 10.1002/lary.28179, PubMed 31287573

Strøm TB, Bjune K, Costa LTD, 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, 28 (22), 3734-3741
DOI 10.1093/hmg/ddz164, PubMed 31332430

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, 88 (3), 440-448
DOI 10.1002/prot.25821, PubMed 31587363

Sundaram AYM, Garseth ÅH, Maccari G, Grimholt U (2019)
An Illumina approach to MHC typing of Atlantic salmon
Immunogenetics, 72 (1-2), 89-100
DOI 10.1007/s00251-019-01143-8, PubMed 31713647

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

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

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

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

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

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

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

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

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

Zhong X, Pla A, Rayner S (2019)
Jasmine: a Java pipeline for isomiR characterization in miRNA-Seq Data
Bioinformatics, 36 (6), 1933-1936
DOI 10.1093/bioinformatics/btz806, PubMed 31681943