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Publications (original articles or review articles) published in 2014 from OUS - Department of Medical Genetics

83 publications found

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
PubMed 24785473

Amundsen SS, Viken MK, Sollid LM, Lie BA (2014)
Coeliac disease-associated polymorphisms influence thymic gene expression
Genes Immun, 15 (6), 355-60
PubMed 24871462

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
PubMed 24468824

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
PubMed 24786909

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
PubMed 25031264

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
PubMed 24498060

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
PubMed 25356403

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
PubMed 24484606

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
PubMed 24664804

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
PubMed 25046553

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
PubMed 24508274

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
PubMed 24589565

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
PubMed 25249698

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
PubMed 24606995

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
PubMed 25433965

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
PubMed 24853997

Egeland T, Dørum G, Vigeland MD, Sheehan NA (2014)
Mixtures with relatives: a pedigree perspective
Forensic Sci Int Genet, 10, 49-54
PubMed 24572837

Ellis JA, Scurrah KJ, Li YR, Ponsonby AL, Chavez RA, Pezic A, Dwyer T, Akikusa JD, Allen RC, Becker ML, Thompson SD, Lie BA, Flatø B, Førre O, Punaro M, Wise C, Finkel TH, Hakonarson H, Munro JE (2014)
Epistasis amongst PTPN2 and genes of the vitamin D pathway contributes to risk of juvenile idiopathic arthritis
J Steroid Biochem Mol Biol, 145, 113-20
PubMed 25460303

Fagerlund A, Myrset AH, Kulseth MA (2014)
Construction of a filamentous phage display peptide library
Methods Mol Biol, 1088, 19-33
PubMed 24146394

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
PubMed 24911659

Finch AP, Lubinski J, Møller P, Singer CF, Karlan B, Senter L, Rosen B, Maehle L, Ghadirian P, Cybulski C, Huzarski T, Eisen A, Foulkes WD, Kim-Sing C, Ainsworth P, Tung N, Lynch HT, Neuhausen S, Metcalfe KA, Thompson I, Murphy J, Sun P, Narod SA (2014)
Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation
J Clin Oncol, 32 (15), 1547-53
PubMed 24567435

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
PubMed 25187641

Geirdal AØ, Lund-Petersen I, Heiberg A (2014)
Understanding the experience of myotonic dystrophy. Mixed method study
J Genet Couns, 24 (1), 169-78
PubMed 25123360

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
PubMed 25082516

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
PubMed 24790682

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
PubMed 24951267

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
PubMed 25041906

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
PubMed 25274070

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
PubMed 25037176

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
PubMed 24458227

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
PubMed 25258038

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
PubMed 24678003

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
PubMed 25392519

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
PubMed 25482078

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
PubMed 24458845

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
PubMed 25422108

Kulseth MA, Fagerlund A, Myrset AH (2014)
Affinity selection using filamentous phage display
Methods Mol Biol, 1088, 67-80
PubMed 24146397

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
PubMed 25312999

Leren TP (2014)
Sorting an LDL receptor with bound PCSK9 to intracellular degradation
Atherosclerosis, 237 (1), 76-81
PubMed 25222343

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
PubMed 25443581

Lund C, Brodtkorb E, Øye AM, Røsby O, Selmer KK (2014)
CHD2 mutations in Lennox-Gastaut syndrome
Epilepsy Behav, 33, 18-21
PubMed 24614520

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
PubMed 25077900

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
PubMed 25359994

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
PubMed 24619930

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
PubMed 24614117

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
PubMed 25447991

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
PubMed 25468658

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
PubMed 24619173

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
PubMed 24517468

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
PubMed 23934601

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
PubMed 25521205

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
PubMed 24906020

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
PubMed 24508593

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
PubMed 25240122

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
PubMed 25441839

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
PubMed 25005734

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
PubMed 25102989

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
PubMed 24924640

Schizophrenia Working Group of the Psychiatric Genomics Consortium (2014)
Biological insights from 108 schizophrenia-associated genetic loci
Nature, 511 (7510), 421-7
PubMed 25056061

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
PubMed 25480913

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
PubMed 24742224

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
PubMed 25159140

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
PubMed 24608104

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
PubMed 25153832

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
PubMed 24931394

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
PubMed 25073507

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
PubMed 24918045

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
PubMed 24144304

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
PubMed 25228300

ten Broeke SW, Brohet RM, Tops CM, van der Klift HM, Velthuizen ME, Bernstein I, Capellá Munar G, Gomez Garcia E, Hoogerbrugge N, Letteboer TG, Menko FH, Lindblom A, Mensenkamp AR, Moller P, van Os TA, Rahner N, Redeker BJ, Sijmons RH, Spruijt L, Suerink M, Vos YJ, Wagner A, Hes FJ, Vasen HF, Nielsen M et al. (2014)
Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk
J Clin Oncol, 33 (4), 319-25
PubMed 25512458

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
PubMed 24961959

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
PubMed 24399358

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
PubMed 25407022

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
PubMed 24636346

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
PubMed 25413698

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