Publications published since 2005 from OUS - Department of Medical Genetics

1073 publications found (only first 1000 shown)

Publications 2018

  1. 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
    PubMed 29169752
  2. Hasselberg NE, Berge KE, Rasmussen M, Früh A, Ørstavik K, Haugaa KH (2018)
    [No title available]
    Tidsskr Nor Laegeforen (in press)
    PubMed 29313627
  3. 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 (in press)
    PubMed 29301143
  4. Ribarska T, Gilfillan GD (2018)
    Native Chromatin Immunoprecipitation-Sequencing (ChIP-Seq) from Low Cell Numbers
    Methods Mol Biol, 1689, 157-166
    PubMed 29027173
  5. 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
    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
    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 (in press)
    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
    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 (in press)
    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
    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
    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
    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
    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
    PubMed 28734156
  10. Dahl JA, Gilfillan GD (2017)
    How low can you go? Pushing the limits of low-input ChIP-seq
    Brief Funct Genomics (in press)
    PubMed 29087438
  11. Danielsen HE, Hveem TS, Domingo E, Pradhan M, Kleppe A, Syvertsen RA, Kostolomov I, Nesheim JA, Askautrud HA, Nesbakken A, Lothe RA, Svindland A, Shepherd N, Novelli M, Johnstone E, Tomlinson I, Kerr R, Kerr DJ (2017)
    Prognostic markers for colorectal cancer; estimating ploidy and stroma
    Ann Oncol (in press)
    PubMed 29293881
  12. 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
    PubMed 28683838
  13. 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
    PubMed 28971120
  14. 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
    PubMed 28348379
  15. 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
    PubMed 28702349
  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 (2017)
    Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families
    Fam Cancer (in press)
    PubMed 28608266
  17. 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
    PubMed 28513609
  18. 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
    PubMed 28472346
  19. 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
    PubMed 28575647
  20. 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
    PubMed 28785368
  21. 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
    PubMed 28637432
  22. 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
    PubMed 28674623
  23. 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
    PubMed 29021403
  24. 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
    PubMed 28088090
  25. Hasselberg NE, Haland TF, Saberniak J, Brekke PH, Berge KE, Leren TP, Edvardsen T, Haugaa KH (2017)
    Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation
    Eur Heart J (in press)
    PubMed 29095976
  26. 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
    PubMed 28695657
  27. 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
    PubMed 28098162
  28. 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
    PubMed 28456592
  29. 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
    PubMed 28049760
  30. 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
    PubMed 28992466
  31. 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
    PubMed 27495310
  32. 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)
    PubMed 28356523
  33. 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)
    PubMed 28524073
  34. Jørstad ØK, Ødegaard EM, Heimdal KR, Kerty E, Heimdal KR, Kerty E (2017)
    Leber Hereditary Optic Neuropathy Caused by a Mitochondrial DNA 10663T>C Point Mutation and Its Response to Idebenone Treatment
    J Neuroophthalmol (in press)
    PubMed 29210930
  35. 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
    PubMed 28858673
  36. 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
    PubMed 28541520
  37. 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
    PubMed 29186694
  38. 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
    PubMed 29159982
  39. 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
    PubMed 27338279
  40. 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)
    PubMed 28270597
  41. 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
    PubMed 27804060
  42. 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
    PubMed 28750047
  43. 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
    PubMed 28327570
  44. 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
    PubMed 29061122
  45. 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
    PubMed 29267373
  46. 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
    PubMed 28934391
  47. Møller P, Hovig E (2017)
    The BRCA2 variant c.68-7 T>A is associated with breast cancer
    Hered Cancer Clin Pract, 15, 20
    PubMed 29158857
  48. Møller P, Hovig E (2017)
    Our genes, our selves: hereditary breast cancer and biological citizenship in Norway
    Med Health Care Philos (in press)
    PubMed 28939999
  49. 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 (in press)
    PubMed 28754778
  50. 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
    PubMed 28815548
  51. 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
    PubMed 28686601
  52. 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
    PubMed 29263835
  53. 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)
    PubMed 28396517
  54. 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
    PubMed 28377535
  55. 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
    PubMed 29036181
  56. 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
    PubMed 28407523
  57. 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
    PubMed 28051166
  58. 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
    PubMed 28650214
  59. 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
    PubMed 28606150
  60. 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
    PubMed 28874130
  61. 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
    PubMed 28371307
  62. 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
    PubMed 28334853
  63. 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
    PubMed 28007905
  64. 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
    PubMed 29126158
  65. 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
    PubMed 28814329
  66. 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
    PubMed 29046738
  67. 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
    PubMed 28597636
  68. 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
    PubMed 28746715
  69. 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 (2017)
    Genetic Overlap Between Schizophrenia and Volumes of Hippocampus, Putamen, and Intracranial Volume Indicates Shared Molecular Genetic Mechanisms
    Schizophr Bull (in press)
    PubMed 29136250
  70. 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
    PubMed 28533504
  71. 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
    PubMed 28081145
  72. 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
    PubMed 28482260
  73. Steineger J, Merckoll E, Slåstad JM, Eriksen EF, Heimdal K, Dheyauldeen S (2017)
    Osteonecrosis after intranasal injection with bevacizumab in treating hereditary hemorrhagic telangiectasia: A case report
    Laryngoscope (in press)
    PubMed 28671294
  74. 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
    PubMed 28334946
  75. 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
    PubMed 28938476
  76. 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
    PubMed 28446151
  77. 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
    PubMed 28223254
  78. 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
    PubMed 28093568
  79. 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, 1-9 (in press)
    PubMed 29219730
  80. 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
    PubMed 28247576
  81. 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 (in press)
    PubMed 29196158
  82. 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
    PubMed 28513610
  83. 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
    PubMed 28586827
  84. 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
    PubMed 28632202
  85. Ørstavik K, Garfelt B, Leren TP, Saberniak J, Haugaa K, Jonsrud C (2017)
    [No title available]
    Tidsskr Nor Laegeforen, 137 (16)
    PubMed 28871726
  86. Ørstavik KH (2017)
    Why are autoimmune diseases more prevalent in women?
    Tidsskr Nor Laegeforen, 137 (12-13), 866-868
    PubMed 28655225
  87. 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
    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
    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
    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
    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
    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
    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
    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
    PubMed 27571979
  8. 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
    PubMed 28041642
  9. 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
    PubMed 26598923
  10. 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
    PubMed 26970254
  11. 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
    PubMed 27406829
  12. 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
    PubMed 27087880
  13. 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
    PubMed 27324182
  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), 1167-79
    PubMed 27240529
  15. 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
    PubMed 26820108
  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
    PubMed 27300082
  17. 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
    PubMed 27199374
  18. 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
    PubMed 27829666
  19. 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
    PubMed 27785156
  20. 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
    PubMed 27494297
  21. 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
    PubMed 26940557
  22. 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
    PubMed 27811963
  23. 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
    PubMed 28607748
  24. 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
    PubMed 27847593
  25. 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
    PubMed 27647428
  26. Hov JR, Boberg KM, Taraldsrud E, Vesterhus M, Boyadzhieva M, Solberg IC, Schrumpf E, Vatn MH, Lie BA, Molberg Ø, Karlsen TH (2016)
    Antineutrophil antibodies define clinical and genetic subgroups in primary sclerosing cholangitis
    Liver Int, 37 (3), 458-465
    PubMed 27558072
  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
    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
    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
    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
    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
    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
    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)
    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
    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)
    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
    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
    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
    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
    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
    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
    PubMed 27869829
  42. 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
    PubMed 27108798
  43. 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
    PubMed 27007234
  44. 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
    PubMed 27742667
  45. 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
    PubMed 27794106
  46. 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
    PubMed 27558979
  47. Mäki-Marttunen T, Halnes G, Devor A, Witoelar A, Bettella F, Djurovic S, Wang Y, Einevoll GT, Andreassen OA, Dale AM (2016)
    Functional Effects of Schizophrenia-Linked Genetic Variants on Intrinsic Single-Neuron Excitability: A Modeling Study
    Biol Psychiatry Cogn Neurosci Neuroimaging, 1 (1), 49-59
    PubMed 26949748
  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
    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
    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
    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. 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
    PubMed 27400880
  53. 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
    PubMed 26765775
  54. 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
    PubMed 27450922
  55. 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)
    PubMed 27472364
  56. 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
    PubMed 27459196
  57. 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
    PubMed 27578112
  58. 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
    PubMed 27286923
  59. 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
    PubMed 26864382
  60. Rowczenio D, Stensland M, de Souza GA, Strøm EH, Gilbertson JA, Taylor G, Rendell N, Minogue S, Efebera YA, Lachmann HJ, Wechalekar AD, Hawkins PN, Heimdal KR, Selvig K, Lægreid IK, Demoulin N, Aydin S, Gillmore JD, Wien TN (2016)
    Renal Amyloidosis Associated With 5 Novel Variants in the Fibrinogen A Alpha Chain Protein
    Kidney Int Rep, 2 (3), 461-469
    PubMed 29142973
  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
    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
    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
    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
    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)
    PubMed 27916860
  66. 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
    PubMed 27896283
  67. 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
    PubMed 26865513
  68. 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
    PubMed 26826018
  69. 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
    PubMed 27769162
  70. 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
    PubMed 27104745
  71. 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
    PubMed 27909437
  72. 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
    PubMed 27861775
  73. 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
    PubMed 27683542
  74. 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
    PubMed 27252783
  75. 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
    PubMed 26941264
  76. Tinholt M, Sandset PM, Iversen N (2016)
    Polymorphisms of the coagulation system and risk of cancer
    Thromb Res, 140 Suppl 1, S49-54
    PubMed 27067978
  77. 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
    PubMed 27505249
  78. 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
    PubMed 26818626
  79. 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)
    PubMed 27574309
  80. 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
    PubMed 27244241
  81. 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
    PubMed 26819469
  82. 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
    PubMed 26920376
  83. 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
    PubMed 26808560
  84. 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
    PubMed 26974433
  85. 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
    PubMed 27896130
  86. 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
    PubMed 27584584
  87. 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
    PubMed 27484032
  88. 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
    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
    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
    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
    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
    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
    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
    PubMed 26220973
  7. 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
    PubMed 26468400
  8. 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
    PubMed 25846056
  9. 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
    PubMed 26189703
  10. 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
    PubMed 26291515
  11. 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
    PubMed 26457178
  12. 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
    PubMed 25994336
  13. 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
    PubMed 25495894
  14. 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
    PubMed 26604104
  15. 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
    PubMed 25862742
  16. 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
    PubMed 26475232
  17. 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
    PubMed 25884492
  18. 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
    PubMed 26698676
  19. 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
    PubMed 26311492
  20. 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
    PubMed 25667571
  21. 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
    PubMed 25970827
  22. 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
    PubMed 26052370
  23. 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
    PubMed 25607358
  24. 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
    PubMed 26559242
  25. 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
    PubMed 26374825
  26. 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
    PubMed 26116559
  27. 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
    PubMed 26207384
  28. 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), 323-30
    PubMed 26682468
  29. 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
    PubMed 26322892
  30. 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
    PubMed 26270546
  31. 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
    PubMed 26154504
  32. 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
    PubMed 26286434
  33. 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
  34. Li YR, Li J, Zhao SD, Bradfield JP, Mentch FD, Maggadottir SM, Hou C, Abrams DJ, Chang D, Gao F, Guo Y, Wei Z, Connolly JJ, Cardinale CJ, Bakay M, Glessner JT, Li D, Kao C, Thomas KA, Qiu H, Chiavacci RM, Kim CE, Wang F, Snyder J, Richie MD et al. (2015)
    Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases
    Nat Med, 21 (9), 1018-27
    PubMed 26301688
  35. Li YR, Zhao SD, Li J, Bradfield JP, Mohebnasab M, Steel L, Kobie J, Abrams DJ, Mentch FD, Glessner JT, Guo Y, Wei Z, Connolly JJ, Cardinale CJ, Bakay M, Li D, Maggadottir SM, Thomas KA, Qui H, Chiavacci RM, Kim CE, Wang F, Snyder J, Flatø B, Førre Ø et al. (2015)
    Genetic sharing and heritability of paediatric age of onset autoimmune diseases
    Nat Commun, 6, 8442
    PubMed 26450413
  36. 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
    PubMed 26257205
  37. 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
    PubMed 26054341
  38. 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
    PubMed 25882629
  39. 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
    PubMed 26587987
  40. 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
    PubMed 26657901
  41. 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
    PubMed 26037256
  42. 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
    PubMed 25599223
  43. Nordstrom 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
  44. 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
    PubMed 25653019
  45. 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
    PubMed 25866590
  46. 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
    PubMed 25772090
  47. 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
    PubMed 25691420
  48. 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
    PubMed 25896426
  49. 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
    PubMed 25155887
  50. 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
    PubMed 25917849
  51. 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
    PubMed 26493165
  52. 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
    PubMed 26108462
  53. 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
    PubMed 25838159
  54. Seldin MF, Alkhairy OK, Lee AT, Lamb JA, Sussman J, Pirskanen-Matell R, Piehl F, Verschuuren JJ, 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, 769-781
    PubMed 26562150
  55. 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), 284-92
    PubMed 26681495
  56. 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
    PubMed 25807283
  57. 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
    PubMed 26708751
  58. 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
    PubMed 26110232
  59. 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
    PubMed 26457590
  60. 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
    PubMed 26222050
  61. 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
    PubMed 25617766
  62. 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
    PubMed 25882602
  63. 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
    PubMed 26684006
  64. 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
    PubMed 25951819
  65. 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
    PubMed 26503472
  66. 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
    PubMed 25735484
  67. Undlien D, Lunde C (2015)
    [In Process Citation]
    Tidsskr Nor Laegeforen, 135 (19), 1728-30
    PubMed 26486666
  68. 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
    PubMed 26338206
  69. 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
    PubMed 26678054
  70. 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
    PubMed 26204230
  71. 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
    PubMed 25875332

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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    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
    PubMed 24572837
  19. 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
  20. Fagerlund A, Myrset AH, Kulseth MA (2014)
    Construction of a filamentous phage display peptide library
    Methods Mol Biol, 1088, 19-33
    PubMed 24146394
  21. 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
  22. 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
  23. 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
  24. 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
  25. 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
  26. 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
  27. 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
  28. 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
  29. 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
  30. 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
  31. 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
  32. Heiberg A, Frich J, Røttingen JA (2014)
    [A. Heiberg and colleagues reply]
    Tidsskr Nor Laegeforen, 134 (8), 809-10
    PubMed 24780961
  33. 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
  34. 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
    PubMed 25149409
  35. 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
  36. 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
  37. 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
  38. 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
  39. 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
  40. Kulseth MA, Fagerlund A, Myrset AH (2014)
    Affinity selection using filamentous phage display
    Methods Mol Biol, 1088, 67-80
    PubMed 24146397
  41. 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
  42. Leren TP (2014)
    Sorting an LDL receptor with bound PCSK9 to intracellular degradation
    Atherosclerosis, 237 (1), 76-81
    PubMed 25222343
  43. 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
    PubMed 24664817
  44. 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
  45. Lund C, Brodtkorb E, Øye AM, Røsby O, Selmer KK (2014)
    CHD2 mutations in Lennox-Gastaut syndrome
    Epilepsy Behav, 33, 18-21
    PubMed 24614520
  46. 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
  47. 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
  48. 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
  49. 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
  50. 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
  51. 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
  52. 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
  53. 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
  54. 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
  55. 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
  56. 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
  57. 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
  58. 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
  59. 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
  60. 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
  61. 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
  62. 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
  63. Schizophrenia Working Group of the Psychiatric Genomics Consortium (2014)
    Biological insights from 108 schizophrenia-associated genetic loci
    Nature, 511 (7510), 421-7
    PubMed 25056061
  64. 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
  65. 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
  66. 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
  67. 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
  68. 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
  69. 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
  70. 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
  71. 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
  72. 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
  73. 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
  74. 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
  75. 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
  76. 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
    PubMed 25398653
  77. 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
  78. 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
  79. 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
  80. 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
  81. 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
    PubMed 24466038
  82. 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
    PubMed 25064070
  83. 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
    PubMed 24809399
  84. 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
    PubMed 25171164
  85. 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
    PubMed 24395077
  86. 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
    PubMed 25264289
  87. 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
    PubMed 24715853
  88. Østby KA, Czajkowski N, Knudsen GP, Ystrom E, Gjerde LC, Kendler KS, Ørstavik RE, Reichborn-Kjennerud T (2014)
    Personality disorders are important risk factors for disability pensioning
    Soc Psychiatry Psychiatr Epidemiol, 49 (12), 2003-11
    PubMed 24791656
  89. 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
    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
    PubMed 23426552
  2. Andersen IM, Tengesdal G, Lie BA, Boberg KM, Karlsen TH, Hov JR (2013)
    Effects of coffee consumption, smoking, and hormones on risk for primary sclerosing cholangitis
    Clin Gastroenterol Hepatol, 12 (6), 1019-28
    PubMed 24076415
  3. 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
    PubMed 23294540
  4. Berge KE, Leren TP (2013)
    Genetics of hypertrophic cardiomyopathy in Norway
    Clin Genet, 86 (4), 355-60
    PubMed 24111713
  5. 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
    PubMed 23562677
  6. 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
    PubMed 23449775
  7. 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
    PubMed 23577084
  8. 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
    PubMed 23677905
  9. 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
    PubMed 23933821
  10. 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
    PubMed 23597419
  11. Egeland T, Pinto N, Vigeland MD (2013)
    A general approach to power calculation for relationship testing
    Forensic Sci Int Genet, 9, 186-90
    PubMed 23810238
  12. 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
    PubMed 24461634
  13. 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
    PubMed 24032404
  14. 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
    PubMed 23664928
  15. 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
    PubMed 24172628
  16. Gjerde LC, Knudsen GP, Czajkowski N, Gillespie N, Aggen SH, Røysamb E, Reichborn-Kjennerud T, Tambs K, Kendler KS, Orstavik RE (2013)
    Genetic and environmental contributions to long-term sick leave and disability pension: a population-based study of young adult Norwegian twins
    Twin Res Hum Genet, 16 (4), 759-66
    PubMed 23743022
  17. 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
    PubMed 23383359
  18. 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
    PubMed 24210736
  19. 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
    PubMed 24058181
  20. 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
    PubMed 23463539
  21. 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
    PubMed 23535386
  22. 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
    PubMed 23370340
  23. 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
    PubMed 24244297
  24. 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
    PubMed 23419472
  25. 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
    PubMed 23895700
  26. 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
    PubMed 23749187
  27. 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
    PubMed 24076602
  28. 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
    PubMed 23624530
  29. 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
    PubMed 23825128
  30. 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
    PubMed 23121221
  31. 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
    PubMed 23415449
  32. 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
    PubMed 24001515
  33. 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
    PubMed 24336335
  34. 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
    PubMed 23613766
  35. 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
    PubMed 23472185
  36. Monclair T, Lundar T, Smevik B, Holm I, Ørstavik KH (2013)
    Currarino syndrome at Rikshospitalet 1961-2012
    Tidsskr Nor Laegeforen, 133 (22), 2364-8
    PubMed 24287836
  37. Møller P (2013)
    [Sperm mutations and older fathers]
    Tidsskr Nor Laegeforen, 133 (6), 609
    PubMed 23552137
  38. 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
    PubMed 23615785
  39. 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
    PubMed 24326587
  40. 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
    PubMed 23542634
  41. 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
    PubMed 23901134
  42. 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
    PubMed 24139709
  43. 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
    PubMed 23522322
  44. 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
    PubMed 23903847
  45. 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
    PubMed 24096523
  46. 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
  47. 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
    PubMed 23645689
  48. 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
    PubMed 24095780
  49. 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
    PubMed 23325852
  50. Prescott T (2013)
    A diagnostic revolution
    Tidsskr Nor Laegeforen, 133 (15), 1550-1
    PubMed 23970244
  51. 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
    PubMed 23298620
  52. 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
    PubMed 23448551
  53. Redfors M, Jensen JL, Storhaug K, Prescott T, Larheim TA (2013)
    Cherubism: panoramic and CT features in adults
    Dentomaxillofac Radiol, 42 (10), 20130034
    PubMed 24048692
  54. 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
    PubMed 23652377
  55. 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
    PubMed 23562522
  56. 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
    PubMed 23946333
  57. 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
    PubMed 24086631
  58. 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
    PubMed 23320987
  59. 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
    PubMed 23575734
  60. 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
    PubMed 23875035
  61. 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
    PubMed 23861880
  62. 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
    PubMed 23820096
  63. 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
    PubMed 23437284
  64. 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
    PubMed 24362816
  65. 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
    PubMed 23463918
  66. 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
    PubMed 23509406
  67. 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
    PubMed 24136669
  68. 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
    PubMed 23333624
  69. 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
    PubMed 23408351
  70. 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
    PubMed 23701123
  71. 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
    PubMed 23294868
  72. 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
    PubMed 23637016
  73. 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
    PubMed 26105854
  74. 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
    PubMed 23471097
  75. 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
    PubMed 23453987
  76. 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
    PubMed 23884634
  77. 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
    PubMed 24002164
  78. 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
    PubMed 24068035
  79. 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
    PubMed 23939975
  80. Ørstavik KH (2013)
    [Gene therapy--an eagerly awaited breakthrough]
    Tidsskr Nor Laegeforen, 133 (8), 823
    PubMed 23612087
  81. Ørstavik KH (2013)
    [Genetic self-tests]
    Tidsskr Nor Laegeforen, 133 (14), 1427
    PubMed 23929282
  82. 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
    PubMed 23455582
  83. 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
    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
    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
    PubMed 22859026
  3. Amstadter AB, Aggen SH, Knudsen GP, Reichborn-Kjennerud T, Kendler KS (2012)
    Potentially traumatic event exposure, posttraumatic stress disorder, and Axis I and II comorbidity in a population-based study of Norwegian young adults
    Soc Psychiatry Psychiatr Epidemiol, 48 (2), 215-23
    PubMed 22782308
  4. Amstadter AB, Aggen SH, Knudsen GP, Reichborn-Kjennerud T, Kendler KS (2012)
    A population-based study of familial and individual-specific environmental contributions to traumatic event exposure and posttraumatic stress disorder symptoms in a Norwegian twin sample
    Twin Res Hum Genet, 15 (5), 656-62
    PubMed 22877512
  5. 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
    PubMed 22712434
  6. 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
    PubMed 22343285
  7. 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
  8. 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)
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    PubMed 22832956
  84. 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
    PubMed 23064873
  85. 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
    PubMed 22492004
  86. 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
    PubMed 22563518
  87. 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
    PubMed 22684473
  88. Østern R, Fagerheim T, Ørstavik K, Holmøy T, Heiberg A, Lund-Petersen I, Strom TM, Nilssen Ø, Dahl A (2012)
    Hereditary motor neuron disease in a large Norwegian family with a "H46R" substitution in the superoxide dismutase 1 gene
    Neuromuscul Disord, 22 (6), 511-21
    PubMed 22475618

Publications 2011

  1. Agartz I, Brown AA, Rimol LM, Hartberg CB, Dale AM, Melle I, Djurovic S, Andreassen OA (2011)
    Common sequence variants in the major histocompatibility complex region associate with cerebral ventricular size in schizophrenia
    Biol Psychiatry, 70 (7), 696-8
    PubMed 21514568
  2. Akre H, Øverland B, Åsten P, Skogedal N, Heimdal K (2011)
    Obstructive sleep apnea in Treacher Collins syndrome
    Eur Arch Otorhinolaryngol, 269 (1), 331-7
    PubMed 21626120
  3. Bakken TE, Bloss CS, Roddey JC, Joyner AH, Rimol LM, Djurovic S, Melle I, Sundet K, Agartz I, Andreassen OA, Dale AM, Schork NJ (2011)
    Association of genetic variants on 15q12 with cortical thickness and cognition in schizophrenia
    Arch Gen Psychiatry, 68 (8), 781-90
    PubMed 21810643
  4. Berg V, Lyche JL, Karlsson C, Stavik B, Nourizadeh-Lillabadi R, Hårdnes N, Skaare JU, Alestrøm P, Lie E, Ropstad E (2011)
    Accumulation and effects of natural mixtures of persistent organic pollutants (POP) in Zebrafish after two generations of exposure
    J Toxicol Environ Health A, 74 (7-9), 407-23
    PubMed 21391088
  5. Brandt C, Jakobsen AH, Adser H, Olesen J, Iversen N, Kristensen JM, Hojman P, Wojtaszewski JF, Hidalgo J, Pilegaard H (2011)
    IL-6 regulates exercise and training-induced adaptations in subcutaneous adipose tissue in mice
    Acta Physiol (Oxf), 205 (2), 224-35
    PubMed 21991887
  6. Chen P, Rayner S, Hu KH (2011)
    Advances of bioinformatics tools applied in virus epitopes prediction
    Virol Sin, 26 (1), 1-7
    PubMed 21331885
  7. Cichon S, Muehleisen TW, Degenhardt FA, Mattheisen M, Miro X, Strohmaier J, Steffens M, Meesters C, Herms S, Weingarten M, Priebe L, Haenisch B, Alexander M, Vollmer J, Breuer R, Schmal C, Tessmann P, Moebus S, Wichmann HE, Schreiber S, Muller-Myhsok B, Lucae S, Jamain S, Leboyer M, Bellivier F et al. (2011)
    Genome-wide Association Study Identifies Genetic Variation in Neurocan as a Susceptibility Factor for Bipolar Disorder (vol 88, pg 372, 2011)
    Am. J. Hum. Genet., 88 (3), 396
  8. Cichon S, Mühleisen TW, Degenhardt FA, Mattheisen M, Miró X, Strohmaier J, Steffens M, Meesters C, Herms S, Weingarten M, Priebe L, Haenisch B, Alexander M, Vollmer J, Breuer R, Schmäl C, Tessmann P, Moebus S, Wichmann HE, Schreiber S, Müller-Myhsok B, Lucae S, Jamain S, Leboyer M, Bellivier F et al. (2011)
    Genome-wide association study identifies genetic variation in neurocan as a susceptibility factor for bipolar disorder
    Am J Hum Genet, 88 (3), 372-81
    PubMed 21353194
  9. Cortes J, Hochhaus A, Hughes T, Kantarjian H (2011)
    Front-line and salvage therapies with tyrosine kinase inhibitors and other treatments in chronic myeloid leukemia
    J Clin Oncol, 29 (5), 524-31
    PubMed 21220597
  10. De Filippis R, Pancrazi L, Bjørgo K, Rosseto A, Kleefstra T, Grillo E, Panighini A, Cardarelli F, Meloni I, Ariani F, Mencarelli MA, Hayek J, Renieri A, Costa M, Mari F (2011)
    Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics
    Clin Genet, 82 (4), 395-403
    PubMed 22091895
  11. Fagan M, Mæhlen M, Lindbæk M, Berild D (2011)
    Antibiotic prescribing in nursing homes in an area with low prevalence of antibiotic resistance: compliance with national guidelines
    Scand J Prim Health Care, 30 (1), 10-5
    PubMed 22188479
  12. Finsen AV, Lunde IG, Sjaastad I, Østli EK, Lyngra M, Jarstadmarken HO, Hasic A, Nygård S, Wilcox-Adelman SA, Goetinck PF, Lyberg T, Skrbic B, Florholmen G, Tønnessen T, Louch WE, Djurovic S, Carlson CR, Christensen G (2011)
    Syndecan-4 is essential for development of concentric myocardial hypertrophy via stretch-induced activation of the calcineurin-NFAT pathway
    PLoS One, 6 (12), e28302
    PubMed 22164265
  13. Frich JC, Heiberg A (2011)
    [Dementia among younger persons and Huntington disease]
    Tidsskr Nor Laegeforen, 131 (17), 1639; author reply 1639
    PubMed 21901032
  14. Gervin K, Hammerø M, Akselsen HE, Moe R, Nygård H, Brandt I, Gjessing HK, Harris JR, Undlien DE, Lyle R (2011)
    Extensive variation and low heritability of DNA methylation identified in a twin study
    Genome Res, 21 (11), 1813-21
    PubMed 21948560
  15. Han N, Rayner S (2011)
    Epidemiology and mutational analysis of global strains of Crimean-Congo haemorrhagic fever virus
    Virol Sin, 26 (4), 229-44
    PubMed 21847754
  16. Hansen T, Ingason A, Djurovic S, Melle I, Fenger M, Gustafsson O, Jakobsen KD, Rasmussen HB, Tosato S, Rietschel M, Frank J, Owen M, Bonetto C, Suvisaari J, Thygesen JH, Pétursson H, Lönnqvist J, Sigurdsson E, Giegling I, Craddock N, O'Donovan MC, Ruggeri M, Cichon S, Ophoff RA, Pietiläinen O et al. (2011)
    At-risk variant in TCF7L2 for type II diabetes increases risk of schizophrenia
    Biol Psychiatry, 70 (1), 59-63
    PubMed 21414605
  17. Harbo HF, Lorentzen AR, Lie BA, Celius EG, Spurkland A (2011)
    [New gene map for multiple sclerosis]
    Tidsskr Nor Laegeforen, 131 (21), 2126-30
    PubMed 22048209
  18. Holen HL, Zernichow L, Fjelland KE, Evenroed IM, Prydz K, Tveit H, Aasheim HC (2011)
    Ephrin-B3 binds to a sulfated cell-surface receptor
    Biochem J, 433 (1), 215-23
    PubMed 20925654
  19. Holen HL, Zernichow L, Fjelland KE, Evenroed IM, Tveit H, Aasheim HC (2011)
    Ephrin-B3 binds specifically to B lymphocytes in blood and induces migration
    Scand J Immunol, 74 (2), 144-54
    PubMed 21447033
  20. Holla ØL, Cameron J, Tveten K, Strøm TB, Berge KE, Laerdahl JK, Leren TP (2011)
    Role of the C-terminal domain of PCSK9 in degradation of the LDL receptors
    J Lipid Res, 52 (10), 1787-94
    PubMed 21771976
  21. Holla ØL, Laerdahl JK, Strøm TB, Tveten K, Cameron J, Berge KE, Leren TP (2011)
    Removal of acidic residues of the prodomain of PCSK9 increases its activity towards the LDL receptor
    Biochem Biophys Res Commun, 406 (2), 234-8
    PubMed 21324305
  22. Ingason A, Kirov G, Giegling I, Hansen T, Isles AR, Jakobsen KD, Kristinsson KT, le Roux L, Gustafsson O, Craddock N, Möller HJ, McQuillin A, Muglia P, Cichon S, Rietschel M, Ophoff RA, Djurovic S, Andreassen OA, Pietiläinen OP, Peltonen L, Dempster E, Collier DA, St Clair D, Rasmussen HB, Glenthøj BY et al. (2011)
    Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness
    Am J Psychiatry, 168 (4), 408-17
    PubMed 21324950
  23. Knappskog S, Bjørnslett M, Myklebust LM, Huijts PE, Vreeswijk MP, Edvardsen H, Guo Y, Zhang X, Yang M, Ylisaukko-Oja SK, Alhopuro P, Arola J, Tollenaar RA, van Asperen CJ, Seynaeve C, Staalesen V, Chrisanthar R, Løkkevik E, Salvesen HB, Evans DG, Newman WG, Lin D, Aaltonen LA, Børresen-Dale AL, Tell GS et al. (2011)
    The MDM2 promoter SNP285C/309G haplotype diminishes Sp1 transcription factor binding and reduces risk for breast and ovarian cancer in Caucasians
    Cancer Cell, 19 (2), 273-82
    PubMed 21316605
  24. Koefoed P, Andreassen OA, Bennike B, Dam H, Djurovic S, Hansen T, Jorgensen MB, Kessing LV, Melle I, Møller GL, Mors O, Werge T, Mellerup E (2011)
    Combinations of SNPs related to signal transduction in bipolar disorder
    PLoS One, 6 (8), e23812
    PubMed 21897858
  25. Kohonen-Corish MR, Macrae F, Genuardi M, Aretz S, Bapat B, Bernstein IT, Burn J, Cotton RG, den Dunnen JT, Frebourg T, Greenblatt MS, Hofstra R, Holinski-Feder E, Lappalainen I, Lindblom A, Maglott D, Møller P, Morreau H, Möslein G, Sijmons R, Spurdle AB, Tavtigian S, Tops CM, Weber TK, de Wind N et al. (2011)
    Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010
    Hum Mutat, 32 (4), 491-4
    PubMed 21387463
  26. Kostovski E, Dahm AE, Iversen N, Hjeltnes N, Østerud B, Sandset PM, Iversen PO (2011)
    Melatonin stimulates release of tissue factor pathway inhibitor from the vascular endothelium
    Blood Coagul Fibrinolysis, 22 (4), 254-9
    PubMed 21297449
  27. Larsen MK, Nissen PH, Berge KE, Leren TP, Kristensen IB, Jensen HK, Banner J (2011)
    Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy
    Forensic Sci Int, 219 (1-3), 33-8
    PubMed 22177269
  28. Leren TP, Berge KE (2011)
    Subjects with molecularly defined familial hypercholesterolemia or familial defective apoB-100 are not being adequately treated
    PLoS One, 6 (2), e16721
    PubMed 21364743
  29. Lu L, Cancel-Tassin G, Valeri A, Cussenot O, Lange EM, Cooney KA, Farnham JM, Camp NJ, Cannon-Albright LA, Tammela TL, Schleutker J, Hoegel J, Herkommer K, Maier C, Vogel W, Wiklund F, Emanuelsson M, Grönberg H, Wiley KE, Isaacs SD, Walsh PC, Helfand BT, Kan D, Catalona WJ, Stanford JL et al. (2011)
    Chromosomes 4 and 8 implicated in a genome wide SNP linkage scan of 762 prostate cancer families collected by the ICPCG
    Prostate, 72 (4), 410-26
    PubMed 21748754
  30. Magnus P, Bakke E, Hoff DA, Høiseth G, Graff-Iversen S, Knudsen GP, Myhre R, Normann PT, Næss Ø, Tambs K, Thelle DS, Mørland J (2011)
    Controlling for high-density lipoprotein cholesterol does not affect the magnitude of the relationship between alcohol and coronary heart disease
    Circulation, 124 (21), 2296-302
    PubMed 22042888
  31. Mamisch TC, Hughes T, Mosher TJ, Mueller C, Trattnig S, Boesch C, Welsch GH (2011)
    T2 star relaxation times for assessment of articular cartilage at 3 T: a feasibility study
    Skeletal Radiol, 41 (3), 287-92
    PubMed 21499976
  32. Mengel-From J, Thinggaard M, Christiansen L, Vaupel JW, Orstavik KH, Christensen K (2011)
    Skewed X inactivation and survival: a 13-year follow-up study of elderly twins and singletons
    Eur J Hum Genet, 20 (3), 361-4
    PubMed 22146940
  33. Misceo D, Rødningen OK, Barøy T, Sorte H, Mellembakken JR, Strømme P, Fannemel M, Frengen E (2011)
    A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism
    Am J Med Genet A, 155A (2), 403-8
    PubMed 21271662
  34. Mousavi SA, Berge KE, Berg T, Leren TP (2011)
    Affinity and kinetics of proprotein convertase subtilisin/kexin type 9 binding to low-density lipoprotein receptors on HepG2 cells
    FEBS J, 278 (16), 2938-50
    PubMed 21692990
  35. Myrset AH, Fjerdingstad HB, Bendiksen R, Arbo BE, Bjerke RM, Johansen JH, Kulseth MA, Skurtveit R (2011)
    Design and characterization of targeted ultrasound microbubbles for diagnostic use
    Ultrasound Med Biol, 37 (1), 136-50
    PubMed 21144962
  36. Olsen L, Hansen T, Djurovic S, Haastrup E, Albrecthsen A, Hoeffding LK, Secher A, Gustafsson O, Jakobsen KD, Nielsen FC, Ullum H, Morken G, Agartz I, Melle I, Gether U, Andreassen OA, Werge T (2011)
    Copy number variations in affective disorders and meta-analysis
    Psychiatr Genet, 21 (6), 319-22
    PubMed 21451435
  37. Pan XL, Liu H, Wang HY, Fu SH, Liu HZ, Zhang HL, Li MH, Gao XY, Wang JL, Sun XH, Lu XJ, Zhai YG, Meng WS, He Y, Wang HQ, Han N, Wei B, Wu YG, Feng Y, Yang DJ, Wang LH, Tang Q, Xia G, Kurane I, Rayner S et al. (2011)
    Emergence of genotype I of Japanese encephalitis virus as the dominant genotype in Asia
    J Virol, 85 (19), 9847-53
    PubMed 21697481
  38. Prescott TE, Smith MJ, Evans DG (2011)
    Comment on the article "Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri" by van den Munckhof et al
    Neurogenetics, 13 (1), 103-4
    PubMed 22203059
  39. Psychiatric GWAS Consortium Bipolar Disorder Working Group (2011)
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4
    Nat Genet, 43 (10), 977-83
    PubMed 21926972
  40. Qiu J, Qin B, Rayner S, Wu CC, Pei RJ, Xu S, Wang Y, Chen XW (2011)
    Novel evidence suggests Hepatitis B virus surface proteins participate in regulation of HBV genome replication
    Virol Sin, 26 (2), 131-8
    PubMed 21468936
  41. Ramm-Pettersen A, Selmer KK, Nakken KO (2011)
    [Glucose transporter protein type 1 (GLUT-1) deficiency syndrome]
    Tidsskr Nor Laegeforen, 131 (8), 828-31
    PubMed 21556087
  42. Ratnamala U, Lyle R, Rawal R, Singh R, Vishnupriya S, Himabindu P, Rao V, Aggarwal S, Paluru P, Bartoloni L, Young TL, Paoloni-Giacobino A, Morris MA, Nath SK, Antonarakis SE, Radhakrishna U (2011)
    Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing
    Invest Ophthalmol Vis Sci, 52 (9), 6814-9
    PubMed 21357393
  43. Ravn K, Roende G, Duno M, Fuglsang K, Eiklid KL, Tümer Z, Nielsen JB, Skjeldal OH (2011)
    Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations
    Orphanet J Rare Dis, 6, 58
    PubMed 21878110
  44. Rodríguez-Rodríguez L, Taib WR, Topless R, Steer S, González-Escribano MF, Balsa A, Pascual-Salcedo D, González-Gay MA, Raya E, Fernandez-Gutierrez B, González-Álvaro I, Bottini N, Witte T, Viken MK, Coenen MJ, van Riel PL, Franke B, den Heijer M, Radstake TR, Wordsworth P, Lie BA, Merriman TR, Martín J (2011)
    The PTPN22 R263Q polymorphism is a risk factor for rheumatoid arthritis in Caucasian case-control samples
    Arthritis Rheum, 63 (2), 365-72
    PubMed 21279993
  45. Sarvari SI, Haugaa KH, Anfinsen OG, Leren TP, Smiseth OA, Kongsgaard E, Amlie JP, Edvardsen T (2011)
    Right ventricular mechanical dispersion is related to malignant arrhythmias: a study of patients with arrhythmogenic right ventricular cardiomyopathy and subclinical right ventricular dysfunction
    Eur Heart J, 32 (9), 1089-96
    PubMed 21406439
  46. Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium (2011)
    Genome-wide association study identifies five new schizophrenia loci
    Nat Genet, 43 (10), 969-76
    PubMed 21926974
  47. Selmer KK, Gilfillan GD, Strømme P, Lyle R, Hughes T, Hjorthaug HS, Brandal K, Nakken S, Misceo D, Egeland T, Munthe LA, Braekken SK, Undlien DE (2011)
    A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions
    Eur J Hum Genet, 20 (1), 58-63
    PubMed 21712855
  48. Sheng Y, Previti C (2011)
    Genomic features and computational identification of human microRNAs under long-range developmental regulation
    BMC Genomics, 12, 270
    PubMed 21619633
  49. Skinningsrud B, Lie BA, Lavant E, Carlson JA, Erlich H, Akselsen HE, Gervin K, Wolff AB, Erichsen MM, Løvås K, Husebye ES, Undlien DE (2011)
    Multiple loci in the HLA complex are associated with Addison's disease
    J Clin Endocrinol Metab, 96 (10), E1703-8
    PubMed 21816777
  50. Smith MJ, Kulkarni A, Rustad C, Bowers NL, Wallace AJ, Holder SE, Heiberg A, Ramsden RT, Evans DG (2011)
    Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis
    Am J Med Genet A, 158A (1), 215-9
    PubMed 22105938
  51. Stavik B, Skretting G, Aasheim HC, Tinholt M, Zernichow L, Sletten M, Sandset PM, Iversen N (2011)
    Downregulation of TFPI in breast cancer cells induces tyrosine phosphorylation signaling and increases metastatic growth by stimulating cell motility
    BMC Cancer, 11, 357
    PubMed 21849050
  52. Stax MJ, Naarding MA, Tanck MW, Lindquist S, Hernell O, Lyle R, Brandtzaeg P, Eggesbø M, Pollakis G, Paxton WA (2011)
    Binding of human milk to pathogen receptor DC-SIGN varies with bile salt-stimulated lipase (BSSL) gene polymorphism
    PLoS One, 6 (2), e17316
    PubMed 21386960
  53. Steinberg S, de Jong S, Irish Schizophrenia Genomics Consortium, Andreassen OA, Werge T, Børglum AD, Mors O, Mortensen PB, Gustafsson O, Costas J, Pietiläinen OP, Demontis D, Papiol S, Huttenlocher J, Mattheisen M, Breuer R, Vassos E, Giegling I, Fraser G, Walker N, Tuulio-Henriksson A, Suvisaari J, Lönnqvist J, Paunio T, Agartz I et al. (2011)
    Common variants at VRK2 and TCF4 conferring risk of schizophrenia
    Hum Mol Genet, 20 (20), 4076-81
    PubMed 21791550
  54. Strøm EH, Sund S, Reier-Nilsen M, Dørje C, Leren TP (2011)
    Lecithin: Cholesterol Acyltransferase (LCAT) Deficiency: renal lesions with early graft recurrence
    Ultrastruct Pathol, 35 (3), 139-45
    PubMed 21323422
  55. Strøm TB, Tveten K, Holla ØL, Cameron J, Berge KE, Leren TP (2011)
    Characterization of residues in the cytoplasmic domain of the LDL receptor required for exit from the endoplasmic reticulum
    Biochem Biophys Res Commun, 415 (4), 642-5
    PubMed 22079632
  56. Strøm TB, Tveten K, Holla ØL, Cameron J, Berge KE, Leren TP (2011)
    The cytoplasmic domain is not involved in directing Class 5 mutant LDL receptors to lysosomal degradation
    Biochem Biophys Res Commun, 408 (4), 642-6
    PubMed 21531209
  57. Tesli M, Koefoed P, Athanasiu L, Mattingsdal M, Gustafsson O, Agartz I, Rimol LM, Brown A, Wirgenes KV, Smorr LL, Kähler AK, Werge T, Mors O, Mellerup E, Jönsson EG, Melle I, Morken G, Djurovic S, Andreassen OA (2011)
    Association analysis of ANK3 gene variants in nordic bipolar disorder and schizophrenia case-control samples
    Am J Med Genet B Neuropsychiatr Genet, 156B (8), 969-74
    PubMed 21972176
  58. Tjeldhorn L, Iversen N, Sandvig K, Bergan J, Sandset PM, Skretting G (2011)
    Protein C mutation (A267T) results in ER retention and unfolded protein response activation
    PLoS One, 6 (8), e24009
    PubMed 21901152
  59. Toleikyte I, Retterstøl K, Leren TP, Iversen PO (2011)
    Pregnancy outcomes in familial hypercholesterolemia: a registry-based study
    Circulation, 124 (15), 1606-14
    PubMed 21911783
  60. Torjussen TM, Lødrup Carlsen KC, Munthe-Kaas MC, Mowinckel P, Carlsen KH, Helms PJ, Gerritsen J, Whyte MK, Lenney W, Undlien DE, Shianna KV, Zhu G, Pillai SG (2011)
    Alpha-nicotinic acetylcholine receptor and tobacco smoke exposure: effects on bronchial hyperresponsiveness in children
    Pediatr Allergy Immunol, 23 (1), 40-9
    PubMed 22017462
  61. Tveten K, Holla ØL, Cameron J, Strøm TB, Berge KE, Laerdahl JK, Leren TP (2011)
    Interaction between the ligand-binding domain of the LDL receptor and the C-terminal domain of PCSK9 is required for PCSK9 to remain bound to the LDL receptor during endosomal acidification
    Hum Mol Genet, 21 (6), 1402-9
    PubMed 22156580
  62. Tveten K, Strøm TB, Cameron J, Holla ØL, Berge KE, Leren TP (2011)
    Characterization of a naturally occurring degradation product of the LDL receptor
    Mol Genet Metab, 105 (1), 149-54
    PubMed 22078455
  63. Van Schijndel JE, Van Zweeden M, Van Loo KM, Djurovic S, Andreassen OA, Hansen T, Werge T, Nyegaard M, Sørensen KM, Nordentoft M, Mortensen PB, Mors O, Børglum AD, Del-Favero J, Norrback KF, Adolfsson R, De Hert M, Claes S, Cichon S, Rietschel M, Nöthen MM, Kallunki P, Pedersen JT, Martens GJ (2011)
    Dual association of a TRKA polymorphism with schizophrenia
    Psychiatr Genet, 21 (3), 125-31
    PubMed 21317683
  64. Warsame AA, Aasheim HC, Nustad K, Trøen G, Tierens A, Wang V, Randen U, Dong HP, Heim S, Brech A, Delabie J (2011)
    Splenic marginal zone lymphoma with VH1-02 gene rearrangement expresses poly- and self-reactive antibodies with similar reactivity
    Blood, 118 (12), 3331-9
    PubMed 21725051
  65. Wei B, Han N, Liu HZ, Rayner A, Rayner S (2011)
    Use of mutual information arrays to predict coevolving sites in the full length HIV gp120 protein for subtypes B and C
    Virol Sin, 26 (2), 95-104
    PubMed 21468932
  66. Wu Y, Wei B, Liu H, Li T, Rayner S (2011)
    MiRPara: a SVM-based software tool for prediction of most probable microRNA coding regions in genome scale sequences
    BMC Bioinformatics, 12, 107
    PubMed 21504621
  67. Zhao JR, Li YD, Pan LM, Zhu N, Ni HX, Xu GZ, Jiang YZ, Huo XX, Xu JQ, Xia H, Han N, Tang S, Zhang Z, Kou Z, Rayner S, Li TX (2011)
    Genetic characteristics of 2009 pandemic H1N1 influenza a viruses isolated from Mainland China
    Virol Sin, 26 (6), 418-27
    PubMed 22160942
  68. Aas M, Djurovic S, Athanasiu L, Steen NE, Agartz I, Lorentzen S, Sundet K, Andreassen OA, Melle I (2011)
    Serotonin transporter gene polymorphism, childhood trauma, and cognition in patients with psychotic disorders
    Schizophr Bull, 38 (1), 15-22
    PubMed 21908796

Publications 2010

  1. Arason A, Gunnarsson H, Johannesdottir G, Jonasson K, Bendahl PO, Gillanders EM, Agnarsson BA, Jönsson G, Pylkäs K, Mustonen A, Heikkinen T, Aittomäki K, Blomqvist C, Melin B, Johannsson OT, Møller P, Winqvist R, Nevanlinna H, Borg A, Barkardottir RB (2010)
    Genome-wide search for breast cancer linkage in large Icelandic non-BRCA1/2 families
    Breast Cancer Res, 12 (4), R50
    PubMed 20637093
  2. Athanasiu L, Mattingsdal M, Kähler AK, Brown A, Gustafsson O, Agartz I, Giegling I, Muglia P, Cichon S, Rietschel M, Pietiläinen OP, Peltonen L, Bramon E, Collier D, Clair DS, Sigurdsson E, Petursson H, Rujescu D, Melle I, Steen VM, Djurovic S, Andreassen OA (2010)
    Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort
    J Psychiatr Res, 44 (12), 748-53
    PubMed 20185149
  3. Athanasiu L, Mattingsdal M, Melle I, Inderhaug E, Lien T, Agartz I, Lorentzen S, Morken G, Andreassen OA, Djurovic S (2010)
    Intron 12 in NTRK3 is associated with bipolar disorder
    Psychiatry Res, 185 (3), 358-62
    PubMed 20554328
  4. Barøy T, Misceo D, Braaten O, Helle JR, Fannemel M, Strømme P, Frengen E (2010)
    A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype
    Eur J Med Genet, 53 (4), 221-4
    PubMed 20382277
  5. Barøy T, Sørensen K, Lindeberg MM, Frengen E (2010)
    shRNA expression constructs designed directly from siRNA oligonucleotide sequences
    Mol Biotechnol, 45 (2), 116-20
    PubMed 20119685
  6. Beggs AD, Latchford AR, Vasen HF, Moslein G, Alonso A, Aretz S, Bertario L, Blanco I, Bülow S, Burn J, Capella G, Colas C, Friedl W, Møller P, Hes FJ, Järvinen H, Mecklin JP, Nagengast FM, Parc Y, Phillips RK, Hyer W, Ponz de Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A et al. (2010)
    Peutz-Jeghers syndrome: a systematic review and recommendations for management
    Gut, 59 (7), 975-86
    PubMed 20581245
  7. Berge KE, Leren TP (2010)
    Mutations in APOA-I and ABCA1 in Norwegians with low levels of HDL cholesterol
    Clin Chim Acta, 411 (23-24), 2019-23
    PubMed 20800056
  8. Bodd TL, Van Ghelue M, Eiklid K, Ruud E, Møller P, Mæhle L (2010)
    Fanconi anaemia, BRCA2 and familial considerations - follow up on a previous case report
    Acta Paediatr, 99 (11), 1741-3
    PubMed 20608899
  9. Christensen GB, Baffoe-Bonnie AB, George A, Powell I, Bailey-Wilson JE, Carpten JD, Giles GG, Hopper JL, Severi G, English DR, Foulkes WD, Maehle L, Moller P, Eeles R, Easton D, Badzioch MD, Whittemore AS, Oakley-Girvan I, Hsieh CL, Dimitrov L, Xu J, Stanford JL, Johanneson B, Deutsch K, McIntosh L et al. (2010)
    Genome-wide linkage analysis of 1,233 prostate cancer pedigrees from the International Consortium for Prostate Cancer Genetics using novel sumLINK and sumLOD analyses
    Prostate, 70 (7), 735-44
    PubMed 20333727
  10. Djurovic S, Gustafsson O, Mattingsdal M, Athanasiu L, Bjella T, Tesli M, Agartz I, Lorentzen S, Melle I, Morken G, Andreassen OA (2010)
    A genome-wide association study of bipolar disorder in Norwegian individuals, followed by replication in Icelandic sample
    J Affect Disord, 126 (1-2), 312-6
    PubMed 20451256
  11. Edén U, Riise R, Tornqvist K (2010)
    Corneal involvement in congenital aniridia
    Cornea, 29 (10), 1096-102
    PubMed 20567200
  12. Eide MB, Liestøl K, Lingjaerde OC, Hystad ME, Kresse SH, Meza-Zepeda L, Myklebost O, Trøen G, Aamot HV, Holte H, Smeland EB, Delabie J (2010)
    Genomic alterations reveal potential for higher grade transformation in follicular lymphoma and confirm parallel evolution of tumor cell clones
    Blood, 116 (9), 1489-97
    PubMed 20505157
  13. Gjone H, Diseth TH, Fausa O, Nøvik TS, Heiberg A (2010)
    Familial adenomatous polyposis: mental health, psychosocial functioning and reactions to genetic risk in adolescents
    Clin Genet, 79 (1), 35-43
    PubMed 21143468
  14. Haugaa KH, Amlie JP, Berge KE, Leren TP, Smiseth OA, Edvardsen T (2010)
    Transmural differences in myocardial contraction in long-QT syndrome: mechanical consequences of ion channel dysfunction
    Circulation, 122 (14), 1355-63
    PubMed 20855658
  15. Haugaa KH, Leren IS, Berge KE, Bathen J, Loennechen JP, Anfinsen OG, Früh A, Edvardsen T, Kongsgård E, Leren TP, Amlie JP (2010)
    High prevalence of exercise-induced arrhythmias in catecholaminergic polymorphic ventricular tachycardia mutation-positive family members diagnosed by cascade genetic screening
    Europace, 12 (3), 417-23
    PubMed 20106799
  16. Hjortshøj TD, Grønskov K, Philp AR, Nishimura DY, Riise R, Sheffield VC, Rosenberg T, Brøndum-Nielsen K (2010)
    Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes
    Hum Mutat, 31 (4), 429-36
    PubMed 20120035
  17. Holen HL, Nustad K, Aasheim HC (2010)
    Activation of EphA receptors on CD4+CD45RO+ memory cells stimulates migration
    J Leukoc Biol, 87 (6), 1059-68
    PubMed 20160140
  18. Holtze M, Saetre P, Erhardt S, Schwieler L, Werge T, Hansen T, Nielsen J, Djurovic S, Melle I, Andreassen OA, Hall H, Terenius L, Agartz I, Engberg G, Jönsson EG, Schalling M (2010)
    Kynurenine 3-monooxygenase (KMO) polymorphisms in schizophrenia: an association study
    Schizophr Res, 127 (1-3), 270-2
    PubMed 21030213
  19. Ingason A, Giegling I, Cichon S, Hansen T, Rasmussen HB, Nielsen J, Jürgens G, Muglia P, Hartmann AM, Strengman E, Vasilescu C, Mühleisen TW, Djurovic S, Melle I, Lerer B, Möller HJ, Francks C, Pietiläinen OP, Lonnqvist J, Suvisaari J, Tuulio-Henriksson A, Walshe M, Vassos E, Di Forti M, Murray R et al. (2010)
    A large replication study and meta-analysis in European samples provides further support for association of AHI1 markers with schizophrenia
    Hum Mol Genet, 19 (7), 1379-86
    PubMed 20071346
  20. Kulseth MA, Berge KE, Bogsrud MP, Leren TP (2010)
    Analysis of LDLR mRNA in patients with familial hypercholesterolemia revealed a novel mutation in intron 14, which activates a cryptic splice site
    J Hum Genet, 55 (10), 676-80
    PubMed 20703241
  21. Kulseth MA, Lyle R, Rødningen OK, Sorte H, Prescott T (2010)
    Exon trapping analysis of c.301-19G > A in intron 1 of the SHH gene in a patient with a microform of holoprosencephaly
    Eur J Med Genet, 54 (2), 130-5
    PubMed 21044704
  22. Kähler AK, Otnaess MK, Wirgenes KV, Hansen T, Jönsson EG, Agartz I, Hall H, Werge T, Morken G, Mors O, Mellerup E, Dam H, Koefod P, Melle I, Steen VM, Andreassen OA, Djurovic S (2010)
    Association study of PDE4B gene variants in Scandinavian schizophrenia and bipolar disorder multicenter case-control samples
    Am J Med Genet B Neuropsychiatr Genet, 153B (1), 86-96
    PubMed 19350560
  23. Launer LJ, Hughes T, Yu B, Masaki K, Petrovitch H, Ross GW, White LR (2010)
    Lowering midlife levels of systolic blood pressure as a public health strategy to reduce late-life dementia: perspective from the Honolulu Heart Program/Honolulu Asia Aging Study
    Hypertension, 55 (6), 1352-9
    PubMed 20404223
  24. Leren IS, Haugaa KH, Edvardsen T, Anfinsen OG, Kongsgård E, Berge KE, Leren TP, Amlie JP (2010)
    [Catecholaminergic polymorphic ventricular tachycardia]
    Tidsskr Nor Laegeforen, 130 (2), 139-42
    PubMed 20125202
  25. Lima K, Følling I, Eiklid KL, Natvig S, Abrahamsen TG (2010)
    Age-dependent clinical problems in a Norwegian national survey of patients with the 22q11.2 deletion syndrome
    Eur J Pediatr, 169 (8), 983-9
    PubMed 20186429
  26. Lundin A, Dietrichs E, Haghighi S, Göller ML, Heiberg A, Loutfi G, Widner H, Wiktorin K, Wiklund L, Svenningsson A, Sonesson C, Waters N, Waters S, Tedroff J (2010)
    Efficacy and safety of the dopaminergic stabilizer Pridopidine (ACR16) in patients with Huntington's disease
    Clin Neuropharmacol, 33 (5), 260-4
    PubMed 20616707
  27. Lyche JL, Nourizadeh-Lillabadi R, Almaas C, Stavik B, Berg V, Skåre JU, Alestrøm P, Ropstad E (2010)
    Natural mixtures of persistent organic pollutants (POP) increase weight gain, advance puberty, and induce changes in gene expression associated with steroid hormones and obesity in female zebrafish
    J Toxicol Environ Health A, 73 (15), 1032-57
    PubMed 20526952
  28. Manuel A, Li W, Jellus V, Hughes T, Prasad PV (2010)
    Variable flip angle-based fast three-dimensional T1 mapping for delayed gadolinium-enhanced MRI of cartilage of the knee: need for B1 correction
    Magn Reson Med, 65 (5), 1377-83
    PubMed 21500264
  29. Martinsson K, Skogh T, Mousavi SA, Berg T, Jönsson JI, Hultman P (2010)
    Deficiency of activating Fcγ-receptors reduces hepatic clearance and deposition of IC and increases CIC levels in mercury-induced autoimmunity
    PLoS One, 5 (10), e13413
    PubMed 20976163
  30. McAreavey D, Vidal JS, Aspelund T, Owens DS, Hughes T, Garcia M, Sigurdsson S, Bjornsdottir H, Harris TB, Gudnason V, Launer LJ, Plehn JF (2010)
    Correlation of echocardiographic findings with cerebral infarction in elderly adults: the AGES-Reykjavik study
    Stroke, 41 (10), 2223-8
    PubMed 20798368
  31. Mero IL, Ban M, Lorentzen ÅR, Smestad C, Celius EG, Sæther H, Saeedi H, Viken MK, Skinningsrud B, Undlien DE, Aarseth J, Myhr KM, Granum S, Spurkland A, Sawcer S, Compston A, Lie BA, Harbo HF (2010)
    Exploring the CLEC16A gene reveals a MS-associated variant with correlation to the relative expression of CLEC16A isoforms in thymus
    Genes Immun, 12 (3), 191-8
    PubMed 21179112
  32. Mitra AV, Bancroft EK, Barbachano Y, Page EC, Foster CS, Jameson C, Mitchell G, Lindeman GJ, Stapleton A, Suthers G, Evans DG, Cruger D, Blanco I, Mercer C, Kirk J, Maehle L, Hodgson S, Walker L, Izatt L, Douglas F, Tucker K, Dorkins H, Clowes V, Male A, Donaldson A et al. (2010)
    Targeted prostate cancer screening in men with mutations in BRCA1 and BRCA2 detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT study
    BJU Int, 107 (1), 28-39
    PubMed 20840664
  33. Munthe-Kaas MC, Torjussen TM, Gervin K, Lødrup Carlsen KC, Carlsen KH, Granum B, Hjorthaug HS, Undlien D, Lyle R (2010)
    CD14 polymorphisms and serum CD14 levels through childhood: a role for gene methylation?
    J Allergy Clin Immunol, 125 (6), 1361-8
    PubMed 20398919
  34. Møller P, Mæhle L, Engebretsen LF, Ludvigsen T, Jonsrud C, Apold J, Vabø A, Clark N (2010)
    High penetrances of BRCA1 and BRCA2 mutations confirmed in a prospective series
    Hered Cancer Clin Pract, 8 (1), 2
    PubMed 20180971
  35. Möller T, Leren TP, Eiklid KL, Holmstrøm H, Fredriksen PM, Thaulow E (2010)
    A novel BMPR2 gene mutation associated with exercise-induced pulmonary hypertension in septal defects
    Scand Cardiovasc J, 44 (6), 331-6
    PubMed 21070126
  36. Nordestgaard BG, Kontula K, Benn M, Dahlöf B, de Faire U, Edelman JM, Eliasson E, Fyhrquist F, Hille DA, Ibsen H, Lyle PA, Berg K, Sandberg M, Sethi AA, Wong PH, Os I (2010)
    Effect of ACE insertion/deletion and 12 other polymorphisms on clinical outcomes and response to treatment in the LIFE study
    Pharmacogenet Genomics, 20 (2), 77-85
    PubMed 20065889
  37. Roslev P, Bukh AS, Iversen L, Sønderbo H, Iversen N (2010)
    Application of mussels as biosamplers for characterization of faecal pollution in coastal recreational waters
    Water Sci Technol, 62 (3), 586-93
    PubMed 20706005
  38. Rødningen OK, Prescott TE, Hovland R, Eiklid K, Houge G (2010)
    [Determination of chromosome aberrations with the help of DNA arrays]
    Tidsskr Nor Laegeforen, 130 (9), 944-7
    PubMed 20453958
  39. Saetre P, Lundmark P, Wang A, Hansen T, Rasmussen HB, Djurovic S, Melle I, Andreassen OA, Werge T, Agartz I, Hall H, Terenius L, Jönsson EG (2010)
    The tryptophan hydroxylase 1 (TPH1) gene, schizophrenia susceptibility, and suicidal behavior: a multi-centre case-control study and meta-analysis
    Am J Med Genet B Neuropsychiatr Genet, 153B (2), 387-396
    PubMed 19526457
  40. Sanner H, Kirkhus E, Merckoll E, Tollisen A, Røisland M, Lie BA, Taraldsrud E, Gran JT, Flatø B (2010)
    Long-term muscular outcome and predisposing and prognostic factors in juvenile dermatomyositis: A case-control study
    Arthritis Care Res (Hoboken), 62 (8), 1103-11
    PubMed 20506141
  41. Shaw AC, van Balkom ID, Bauer M, Cole TR, Delrue MA, Van Haeringen A, Holmberg E, Knight SJ, Mortier G, Nampoothiri S, Pušeljić S, Zenker M, Cormier-Daire V, Hennekam RC (2010)
    Phenotype and natural history in Marshall-Smith syndrome
    Am J Med Genet A, 152A (11), 2714-26
    PubMed 20949508
  42. Siem G, Fagerheim T, Jonsrud C, Laurent C, Teig E, Harris S, Leren TP, Früh A, Heimdal K (2010)
    Causes of hearing impairment in the Norwegian paediatric cochlear implant program
    Int J Audiol, 49 (8), 596-605
    PubMed 20553101
  43. Sjursen W, Haukanes BI, Grindedal EM, Aarset H, Stormorken A, Engebretsen LF, Jonsrud C, Bjørnevoll I, Andresen PA, Ariansen S, Lavik LA, Gilde B, Bowitz-Lothe IM, Maehle L, Møller P (2010)
    Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers
    J Med Genet, 47 (9), 579-85
    PubMed 20587412
  44. Skinner JR, Crawford J, Smith W, Aitken A, Heaven D, Evans CA, Hayes I, Neas KR, Stables S, Koelmeyer T, Denmark L, Vuletic J, Maxwell F, White K, Yang T, Roden DM, Leren TP, Shelling A, Love DR, Cardiac Inherited Disease Group New Zealand (2010)
    Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds
    Heart Rhythm, 8 (3), 412-9
    PubMed 21070882
  45. Skretting G, Stavik B, Landvik NE, Myklebust CF, Iversen N, Zienolddiny S, Sandset PM (2010)
    Functional characterization of polymorphisms in the human TFPI gene
    Biochem Biophys Res Commun, 397 (1), 106-11
    PubMed 20519147
  46. Slagsvold JE, Pettersen CH, Størvold GL, Follestad T, Krokan HE, Schønberg SA (2010)
    DHA alters expression of target proteins of cancer therapy in chemotherapy resistant SW620 colon cancer cells
    Nutr Cancer, 62 (5), 611-21
    PubMed 20574922
  47. Stavik B, Skretting G, Sletten M, Sandset PM, Iversen N (2010)
    Overexpression of both TFPIα and TFPIβ induces apoptosis and expression of genes involved in the death receptor pathway in breast cancer cells
    Mol Carcinog, 49 (11), 951-63
    PubMed 20886581
  48. Steen NE, Tesli M, Kähler AK, Methlie P, Hope S, Barrett EA, Larsson S, Mork E, Løvås K, Røssberg JI, Agartz I, Melle I, Djurovic S, Lorentzen S, Berg JP, Andreassen OA (2010)
    SRD5A2 is associated with increased cortisol metabolism in schizophrenia spectrum disorders
    Prog Neuropsychopharmacol Biol Psychiatry, 34 (8), 1500-6
    PubMed 20800085
  49. Steinberg S, Mors O, Børglum AD, Gustafsson O, Werge T, Mortensen PB, Andreassen OA, Sigurdsson E, Thorgeirsson TE, Böttcher Y, Olason P, Ophoff RA, Cichon S, Gudjonsdottir IH, Pietiläinen OP, Nyegaard M, Tuulio-Henriksson A, Ingason A, Hansen T, Athanasiu L, Suvisaari J, Lonnqvist J, Paunio T, Hartmann A, Jürgens G et al. (2010)
    Expanding the range of ZNF804A variants conferring risk of psychosis
    Mol Psychiatry, 16 (1), 59-66
    PubMed 20048749
  50. Stene LC, Rønningen KS, Undlien DE, Joner G (2010)
    Does the relative risk for type 1 diabetes conferred by HLA-DQ, INS, and PTPN22 polymorphisms vary with maternal age, birth weight, or cesarean section?
    Pediatr Diabetes, 12 (2), 91-4
    PubMed 21352425
  51. Strøm TB, Holla ØL, Tveten K, Cameron J, Berge KE, Leren TP (2010)
    Disrupted recycling of the low density lipoprotein receptor by PCSK9 is not mediated by residues of the cytoplasmic domain
    Mol Genet Metab, 101 (1), 76-80
    PubMed 20659812
  52. Tesli M, Athanasiu L, Mattingsdal M, Kähler AK, Gustafsson O, Andreassen BK, Werge T, Hansen T, Mors O, Mellerup E, Koefoed P, Jönsson EG, Agartz I, Melle I, Morken G, Djurovic S, Andreassen OA (2010)
    Association analysis of PALB2 and BRCA2 in bipolar disorder and schizophrenia in a scandinavian case-control sample
    Am J Med Genet B Neuropsychiatr Genet, 153B (7), 1276-82
    PubMed 20872766
  53. Tjeldhorn L, Iversen N, Sandvig K, Bergan J, Sandset PM, Skretting G (2010)
    Functional characterization of the protein C A267T mutation: evidence for impaired secretion due to defective intracellular transport
    BMC Cell Biol, 11, 67
    PubMed 20815936
  54. Vares M, Saetre P, Deng H, Cai G, Liu X, Hansen T, Rasmussen HB, Werge T, Melle I, Djurovic S, Andreassen OA, Agartz I, Hall H, Terenius L, Jönsson EG (2010)
    Association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and age of onset in schizophrenia
    Am J Med Genet B Neuropsychiatr Genet, 153B (2), 610-618
    PubMed 19746410
  55. von der Lippe C, Rustad C, Heimdal K, Rødningen OK (2010)
    15q11.2 microdeletion - seven new patients with delayed development and/or behavioural problems
    Eur J Med Genet, 54 (3), 357-60
    PubMed 21187176
  56. Wagle J, Farner L, Flekkøy K, Wyller TB, Sandvik L, Eiklid KL, Fure B, Stensrød B, Engedal K (2010)
    Cognitive impairment and the role of the ApoE epsilon4-allele after stroke--a 13 months follow-up study
    Int J Geriatr Psychiatry, 25 (8), 833-42
    PubMed 19960482
  57. Wangensteen T, Akselsen H, Holmen J, Undlien D, Retterstøl L (2010)
    A common haplotype in NAPEPLD is associated with severe obesity in a Norwegian population-based cohort (the HUNT study)
    Obesity (Silver Spring), 19 (3), 612-7
    PubMed 20885390
  58. Wangensteen T, Egeland T, Akselsen H, Holmen J, Undlien D, Retterstøl L (2010)
    FTO genotype and weight gain in obese and normal weight adults from a Norwegian population based cohort (the HUNT study)
    Exp Clin Endocrinol Diabetes, 118 (9), 649-52
    PubMed 20373279
  59. White HE, Matejtschuk P, Rigsby P, Gabert J, Lin F, Lynn Wang Y, Branford S, Müller MC, Beaufils N, Beillard E, Colomer D, Dvorakova D, Ehrencrona H, Goh HG, El Housni H, Jones D, Kairisto V, Kamel-Reid S, Kim DW, Langabeer S, Ma ES, Press RD, Romeo G, Wang L, Zoi K et al. (2010)
    Establishment of the first World Health Organization International Genetic Reference Panel for quantitation of BCR-ABL mRNA
    Blood, 116 (22), e111-7
    PubMed 20720184
  60. Wirgenes KV, Djurovic S, Sundet K, Agartz I, Mattingsdal M, Athanasiu L, Melle I, Andreassen OA (2010)
    Catechol O-methyltransferase variants and cognitive performance in schizophrenia and bipolar disorder versus controls
    Schizophr Res, 122 (1-3), 31-7
    PubMed 20605701
  61. Xiong J, Liu J, Rayner S, Li Y, Chen S (2010)
    Protein-protein interaction reveals synergistic discrimination of cancer phenotype
    Cancer Inform, 9, 61-6
    PubMed 20458363
  62. Xiong J, Liu J, Rayner S, Tian Z, Li Y, Chen S (2010)
    Pre-clinical drug prioritization via prognosis-guided genetic interaction networks
    PLoS One, 5 (11), e13937
    PubMed 21085674
  63. Yin Y, Xiao Y, Liu HZ, Hao F, Rayner S, Tang H, Zhou NY (2010)
    Characterization of catabolic meta-nitrophenol nitroreductase from Cupriavidus necator JMP134
    Appl Microbiol Biotechnol, 87 (6), 2077-85
    PubMed 20508930
  64. Zhang Y, Hu Y, Yang B, Ma F, Lu P, Li L, Wan C, Rayner S, Chen S (2010)
    Duckweed (Lemna minor) as a model plant system for the study of human microbial pathogenesis
    PLoS One, 5 (10), e13527
    PubMed 21049039
  65. Aasebø W, Strøm EH, Hovig T, Undset LH, Heiberg A, Jenssen T (2010)
    Fabry disease in donor kidneys with 3- and 12-year follow-up after transplantation
    NDT Plus, 3 (3), 303-305
    PubMed 28657066

Publications 2009

  1. Alders M, Hogan BM, Gjini E, Salehi F, Al-Gazali L, Hennekam EA, Holmberg EE, Mannens MM, Mulder MF, Offerhaus GJ, Prescott TE, Schroor EJ, Verheij JB, Witte M, Zwijnenburg PJ, Vikkula M, Schulte-Merker S, Hennekam RC (2009)
    Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
    Nat Genet, 41 (12), 1272-4
    PubMed 19935664
  2. Andreou D, Saetre P, Lundmark P, Hansen T, Timm S, Melle I, Djurovic S, Andreassen OA, Werge T, Hall H, Agartz I, Terenius L, Jönsson EG (2009)
    Tyrosine hydroxylase Val81Met polymorphism: lack of association with schizophrenia
    Psychiatr Genet, 19 (5), 273-4
    PubMed 19491717
  3. Andresen PA, Heimdal K, Aaberg K, Eklo K, Ariansen S, Silye A, Fausa O, Aabakken L, Aretz S, Eide TJ, Gedde-Dahl T (2009)
    APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations
    J Cancer Res Clin Oncol, 135 (10), 1463-70
    PubMed 19444466
  4. Askautrud HA, Gjernes E, Størvold GL, Lindeberg MM, Thorsen J, Prydz H, Frengen E (2009)
    Regulated expression of a transgene introduced on an oriP/EBNA-1 PAC shuttle vector into human cells
    BMC Biotechnol, 9, 88
    PubMed 19835613
  5. Baccarani M, Cortes J, Pane F, Niederwieser D, Saglio G, Apperley J, Cervantes F, Deininger M, Gratwohl A, Guilhot F, Hochhaus A, Horowitz M, Hughes T, Kantarjian H, Larson R, Radich J, Simonsson B, Silver RT, Goldman J, Hehlmann R, European LeukemiaNet (2009)
    Chronic myeloid leukemia: an update of concepts and management recommendations of European LeukemiaNet
    J Clin Oncol, 27 (35), 6041-51
    PubMed 19884523
  6. Bartkuhn M, Straub T, Herold M, Herrmann M, Rathke C, Saumweber H, Gilfillan GD, Becker PB, Renkawitz R (2009)
    Active promoters and insulators are marked by the centrosomal protein 190
    EMBO J, 28 (7), 877-88
    PubMed 19229299
  7. Bjørnvold M, Munthe-Kaas MC, Egeland T, Joner G, Dahl-Jørgensen K, Njølstad PR, Akselsen HE, Gervin K, Carlsen KC, Carlsen KH, Undlien DE (2009)
    A TLR2 polymorphism is associated with type 1 diabetes and allergic asthma
    Genes Immun, 10 (2), 181-7
    PubMed 19148143
  8. Blencowe B, Brenner S, Hughes T, Morris Q (2009)
    Post-transcriptional gene regulation: RNA-protein interactions, RNA processing, mRNA stability and localization
    Pac Symp Biocomput, 545-8
    PubMed 19209730
  9. Brandal P, Bjerkehagen B, Bruland OS, Skjeldal S, Bogsrud TV, Hall KS (2009)
    Synchronous and metachronous skeletal osteosarcomas: the Norwegian Radium Hospital experience
    Acta Oncol, 48 (8), 1165-72
    PubMed 19863225
  10. Brandal P, Panagopoulos I, Bjerkehagen B, Heim S (2009)
    t(19;22)(q13;q12) Translocation leading to the novel fusion gene EWSR1-ZNF444 in soft tissue myoepithelial carcinoma
    Genes Chromosomes Cancer, 48 (12), 1051-6
    PubMed 19760602
  11. Bratland E, Skinningsrud B, Undlien DE, Mozes E, Husebye ES (2009)
    T cell responses to steroid cytochrome P450 21-hydroxylase in patients with autoimmune primary adrenal insufficiency
    J Clin Endocrinol Metab, 94 (12), 5117-24
    PubMed 19890026
  12. Brix TH, Hansen PS, Bennedbak FN, Bonnema SJ, Kyvik KO, Ørstavik KH, Hegedüs L (2009)
    X Chromosome inactivation pattern is not associated with interindividual variations in thyroid volume: a study of euthyroid Danish female twins
    Twin Res Hum Genet, 12 (5), 502-6
    PubMed 19803777
  13. Brix TH, Hansen PS, Knudsen GP, Kringen MK, Kyvik KO, Orstavik KH, Hegedüs L (2009)
    No link between X chromosome inactivation pattern and simple goiter in females: evidence from a twin study
    Thyroid, 19 (2), 165-9
    PubMed 19191747
  14. Cameron J, Holla ØL, Kulseth MA, Leren TP, Berge KE (2009)
    Splice-site mutation c.313+1, G>A in intron 3 of the LDL receptor gene results in transcripts with skipping of exon 3 and inclusion of intron 3
    Clin Chim Acta, 403 (1-2), 131-5
    PubMed 19361455
  15. Cameron J, Ranheim T, Halvorsen B, Kulseth MA, Leren TP, Berge KE (2009)
    Tangier disease caused by compound heterozygosity for ABCA1 mutations R282X and Y1532C
    Atherosclerosis, 209 (1), 163-6
    PubMed 19765707
  16. Chandriani S, Frengen E, Cowling VH, Pendergrass SA, Perou CM, Whitfield ML, Cole MD (2009)
    A core MYC gene expression signature is prominent in basal-like breast cancer but only partially overlaps the core serum response
    PLoS One, 4 (8), e6693
    PubMed 19690609
  17. Coccia M, Brooks SP, Webb TR, Christodoulou K, Wozniak IO, Murday V, Balicki M, Yee HA, Wangensteen T, Riise R, Saggar AK, Park SM, Kanuga N, Francis PJ, Maher ER, Moore AT, Russell-Eggitt IM, Hardcastle AJ (2009)
    X-linked cataract and Nance-Horan syndrome are allelic disorders
    Hum Mol Genet, 18 (14), 2643-55
    PubMed 19414485
  18. Dahlback HS, Brandal P, Meling TR, Gorunova L, Scheie D, Heim S (2009)
    Genomic aberrations in 80 cases of primary glioblastoma multiforme: Pathogenetic heterogeneity and putative cytogenetic pathways
    Genes Chromosomes Cancer, 48 (10), 908-24
    PubMed 19603525
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    Dasatinib or high-dose imatinib for chronic-phase chronic myeloid leukemia resistant to imatinib at a dose of 400 to 600 milligrams daily: two-year follow-up of a randomized phase 2 study (START-R)
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    An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion
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    Reverse painting of microdissected chromosome 19 markers in ovarian carcinoma identifies a complex rearrangement map
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    Photochemical internalization of bleomycin before external-beam radiotherapy improves locoregional control in a human sarcoma model
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    Transcriptional regulation in liver and testis associated with developmental and reproductive effects in male zebrafish exposed to natural mixtures of persistent organic pollutants (POP)
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    X chromosome inactivation in clinical practice
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    Evidence for a possible association of neurotrophin receptor (NTRK-3) gene polymorphisms with hippocampal function and schizophrenia
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    Two brothers with a microduplication including the MECP2 gene: rapid head growth in infancy and resolution of susceptibility to infection
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    HLA-DRB1 and month of birth in multiple sclerosis
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    Prevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndrome
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    SCN1A mutation screening in adult patients with Lennox-Gastaut syndrome features
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    Increasing the resolution of the comet assay using fluorescent in situ hybridization--a review
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    Identification of distant family relationships
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    X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism caused by an inversion disrupting a conserved noncoding element upstream of the NR0B1 (DAX1) gene
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    A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-cyclic citrullinated peptide antibody negative rheumatoid arthritis
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    An inverse association between history of childhood eczema and subsequent risk of type 1 diabetes that is not likely to be explained by HLA-DQ, PTPN22, or CTLA4 polymorphisms
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    Loss-of-function mutation R46L in the PCSK9 gene has little impact on the levels of total serum cholesterol in familial hypercholesterolemia heterozygotes
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    A Phase I/II study of nilotinib in Japanese patients with imatinib-resistant or -intolerant Ph+ CML or relapsed/refractory Ph+ ALL
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    Functional analysis of the synonymous R385R mutation in the low-density lipoprotein receptor gene
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    The effect of bafilomycin A1 and protease inhibitors on the degradation and recycling of a Class 5-mutant LDLR
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    A double blind evaluation of cognitive decline in a Norwegian cohort of asymptomatic carriers of Huntington's disease
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    Recommendations to improve identification of hereditary and familial colorectal cancer in Europe
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    PubMed 19295542
  101. Wagle J, Farner L, Flekkøy K, Wyller TB, Sandvik L, Eiklid KL, Fure B, Stensrød B, Engedal K (2009)
    Association between ApoE epsilon4 and cognitive impairment after stroke
    Dement Geriatr Cogn Disord, 27 (6), 525-33
    PubMed 19494491
  102. Wangensteen T, Kolsgaard ML, Mattingsdal M, Joner G, Tonstad S, Undlien D, Retterstol L (2009)
    Mutations in the melanocortin 4 receptor (MC4R) gene in obese patients in Norway
    Exp Clin Endocrinol Diabetes, 117 (6), 266-73
    PubMed 19301229
  103. Welsch GH, Scheffler K, Mamisch TC, Hughes T, Millington S, Deimling M, Trattnig S (2009)
    Rapid estimation of cartilage T2 based on double echo at steady state (DESS) with 3 Tesla
    Magn Reson Med, 62 (2), 544-9
    PubMed 19526515
  104. Wirgenes KV, Djurovic S, Agartz I, Jonsson EG, Werge T, Melle I, Andreassen OA (2009)
    Dysbindin and d-amino-acid-oxidase gene polymorphisms associated with positive and negative symptoms in schizophrenia
    Neuropsychobiology, 60 (1), 31-6
    PubMed 19729970
  105. Wälchli S, Aasheim HC, Skånland SS, Spilsberg B, Torgersen ML, Rosendal KR, Sandvig K (2009)
    Characterization of clathrin and Syk interaction upon Shiga toxin binding
    Cell Signal, 21 (7), 1161-8
    PubMed 19289168

Publications 2008

  1. Attanasio C, Reymond A, Humbert R, Lyle R, Kuehn MS, Neph S, Sabo PJ, Goldy J, Weaver M, Haydock A, Lee K, Dorschner M, Dermitzakis ET, Antonarakis SE, Stamatoyannopoulos JA (2008)
    Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells
    Genome Biol, 9 (12), R168
    PubMed 19055709
  2. Aurlien D, Leren TP, Taubøll E, Gjerstad L (2008)
    New SCN5A mutation in a SUDEP victim with idiopathic epilepsy
    Seizure, 18 (2), 158-60
    PubMed 18752973
  3. Barøy T, Misceo D, Frengen E (2008)
    [Structural variation in the human genome contributes to variation of traits]
    Tidsskr Nor Laegeforen, 128 (17), 1951-5
    PubMed 18787571
  4. Berge KE, Haugaa KH, Früh A, Anfinsen OG, Gjesdal K, Siem G, Oyen N, Greve G, Carlsson A, Rognum TO, Hallerud M, Kongsgård E, Amlie JP, Leren TP (2008)
    Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers
    Scand J Clin Lab Invest, 68 (5), 362-8
    PubMed 18752142
  5. Bjørnstad PG, Leren TP (2008)
    Familial atrial septal defect in the oval fossa with progressive prolongation of the atrioventricular conduction caused by mutations in the NKX2.5 gene
    Cardiol Young, 19 (1), 40-4
    PubMed 19049681
  6. Bjørnvold M, Undlien DE, Joner G, Dahl-Jørgensen K, Njølstad PR, Akselsen HE, Gervin K, Rønningen KS, Stene LC (2008)
    Joint effects of HLA, INS, PTPN22 and CTLA4 genes on the risk of type 1 diabetes
    Diabetologia, 51 (4), 589-96
    PubMed 18292987
  7. Boye K, Grotterød I, Aasheim HC