Biomedical research at Oslo University Hospital

Oslo University Hospital is a merger of three former university hospitals in Oslo. Biomedical research is one of the hospital's core activities. Research at the hospital is closely interlinked with research undertaken at the University of Oslo. More than 50% of all biomedical research in Norway is published by researchers affiliated with the hospital. Research undertaken cover both basic research, translational research, and clinical research.

Oslo University Hospital has a central role in developing and supporting biomedical research within the South-Eastern Regional Health Authority. The hospital also pursues international research collaborations.

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Summary of publications:

Publications (original articles or review articles) published in 2017 from OUS - Department of Medical Genetics

76 publications found

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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
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