Publications

Publications published since 2005 from OUS - Department of Medical Genetics

1481 publications found (only first 1000 shown)

Publications 2021

  1. Ahring PK, Liao VWY, Gardella E, Johannesen KM, Krey I, Selmer KK, Stadheim BF, Davis H, Peinhardt C, Koko M, Coorg RK, Syrbe S, Bertsche A, Santiago-Sim T, Diemer T, Fenger CD, Platzer K, Eichler EE, Lerche H, Lemke JR, Chebib M, Møller RS (2021)
    Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy
    Brain (in press)
    DOI 10.1093/brain/awab391, PubMed 34633442
  2. Akkouh IA, Hribkova H, Grabiec M, Budinska E, Szabo A, Kasparek T, Andreassen OA, Sun YM, Djurovic S (2021)
    Derivation and Molecular Characterization of a Morphological Subpopulation of Human iPSC Astrocytes Reveal a Potential Role in Schizophrenia and Clozapine Response
    Schizophr Bull (in press)
    DOI 10.1093/schbul/sbab092, PubMed 34357384
  3. Akkouh IA, Hughes T, Steen VM, Glover JC, Andreassen OA, Djurovic S, Szabo A (2021)
    Transcriptome analysis reveals disparate expression of inflammation-related miRNAs and their gene targets in iPSC-astrocytes from people with schizophrenia
    Brain Behav Immun, 94, 235-244
    DOI 10.1016/j.bbi.2021.01.037, PubMed 33571628
  4. Akselsen HE (2021)
    The laboratory is the heart of the health services
    Tidsskr Nor Laegeforen, 141 (9)
    DOI 10.4045/tidsskr.21.0439, PubMed 34107648
  5. Andersen E, Chollet ME, Sletten M, Stavik B, Skarpen E, Backe PH, Thiede B, Glosli H, Henriksson CE, Iversen N (2021)
    Molecular Characterization of Two Homozygous Factor VII Variants Associated with Intracranial Bleeding
    Thromb Haemost, 121 (12), 1588-1598
    DOI 10.1055/a-1450-8568, PubMed 33742435
  6. Andresen M, Sletten M, Sandset PM, Iversen N, Stavik B, Tinholt M (2021)
    Coagulation factor 5 (F5) is an estrogen-responsive gene in breast cancer cells
    Thromb Haemost (in press)
    DOI 10.1055/a-1707-2130, PubMed 34826880
  7. Aure MR, Fleischer T, Bjørklund S, Ankill J, Castro-Mondragon JA, OSBREAC, Børresen-Dale AL, Tost J, Sahlberg KK, Mathelier A, Tekpli X, Kristensen VN (2021)
    Crosstalk between microRNA expression and DNA methylation drives the hormone-dependent phenotype of breast cancer
    Genome Med, 13 (1), 72
    DOI 10.1186/s13073-021-00880-4, PubMed 33926515
  8. Bahrami S, Hindley G, Winsvold BS, O'Connell KS, Frei O, Shadrin A, Cheng W, Bettella F, Rødevand L, Odegaard KJ, Fan CC, Pirinen MJ, Hautakangas HM, Headache HA, Dale AM, Djurovic S, Smeland OB, Andreassen OA (2021)
    Dissecting the shared genetic basis of migraine and mental disorders using novel statistical tools
    Brain (in press)
    DOI 10.1093/brain/awab267, PubMed 34273149
  9. Bahrami S, Shadrin A, Frei O, O'Connell KS, Bettella F, Krull F, Fan CC, Røssberg JI, Hindley G, Ueland T, Dale AM, Djurovic S, Steen NE, Smeland OB, Andreassen OA (2021)
    Genetic loci shared between major depression and intelligence with mixed directions of effect
    Nat Hum Behav, 5 (6), 795-801
    DOI 10.1038/s41562-020-01031-2, PubMed 33462475
  10. Bancroft EK, Page EC, Brook MN, Thomas S, Taylor N, Pope J, McHugh J, Jones AB, Karlsson Q, Merson S, Ong KR, Hoffman J, Huber C, Maehle L, Grindedal EM, Stormorken A, Evans DG, Rothwell J, Lalloo F, Brady AF, Bartlett M, Snape K, Hanson H, James P, McKinley J et al. (2021)
    A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study
    Lancet Oncol, 22 (11), 1618-1631
    DOI 10.1016/S1470-2045(21)00522-2, PubMed 34678156
  11. Baxter JS, Johnson N, Tomczyk K, Gillespie A, Maguire S, Brough R, Fachal L, Michailidou K, Bolla MK, Wang Q, Dennis J, Ahearn TU, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Augustinsson A, Becher H, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bogdanova NV, Bojesen SE et al. (2021)
    Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element
    Am J Hum Genet, 108 (7), 1190-1203
    DOI 10.1016/j.ajhg.2021.05.013, PubMed 34146516
  12. Ben-Elazar S, Aure MR, Jonsdottir K, Leivonen SK, Kristensen VN, Janssen EAM, Kleivi Sahlberg K, Lingjærde OC, Yakhini Z (2021)
    miRNA normalization enables joint analysis of several datasets to increase sensitivity and to reveal novel miRNAs differentially expressed in breast cancer
    PLoS Comput Biol, 17 (2), e1008608
    DOI 10.1371/journal.pcbi.1008608, PubMed 33566819
  13. Berland S, Rustad CF, Bentsen MHL, Wollen EJ, Turowski G, Johansson S, Houge G, Haukanes BI (2021)
    Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith-Wiedemann spectrum features
    Cold Spring Harb Mol Case Stud (in press)
    DOI 10.1101/mcs.a006113, PubMed 34615670
  14. Birkenæs V, Elvsåshagen T, Westlye LT, Høegh MC, Haram M, Werner MCF, Quintana DS, Lunding SH, Martin-Ruiz C, Agartz I, Djurovic S, Steen NE, Andreassen OA, Aas M (2021)
    Telomeres are shorter and associated with number of suicide attempts in affective disorders
    J Affect Disord, 295, 1032-1039
    DOI 10.1016/j.jad.2021.08.135, PubMed 34706411
  15. Blokland GAM, Grove J, Chen CY, Cotsapas C, Tobet S, Handa R, Schizophrenia Working Group of the Psychiatric Genomics Consortium, St Clair D, Lencz T, Mowry BJ, Periyasamy S, Cairns MJ, Tooney PA, Wu JQ, Kelly B, Kirov G, Sullivan PF, Corvin A, Riley BP, Esko T, Milani L, Jönsson EG, Palotie A, Ehrenreich H, Begemann M et al. (2021)
    Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders
    Biol Psychiatry (in press)
    DOI 10.1016/j.biopsych.2021.02.972, PubMed 34099189
  16. Cheng W, Frei O, van der Meer D, Wang Y, O'Connell KS, Chu Y, Bahrami S, Shadrin AA, Alnæs D, Hindley GFL, Lin A, Karadag N, Fan CC, Westlye LT, Kaufmann T, Molden E, Dale AM, Djurovic S, Smeland OB, Andreassen OA (2021)
    Genetic Association Between Schizophrenia and Cortical Brain Surface Area and Thickness
    JAMA Psychiatry, 78 (9), 1020-1030
    DOI 10.1001/jamapsychiatry.2021.1435, PubMed 34160554
  17. Conti DV, Darst BF, Moss LC, Saunders EJ, Sheng X, Chou A, Schumacher FR, Olama AAA, Benlloch S, Dadaev T, Brook MN, Sahimi A, Hoffmann TJ, Takahashi A, Matsuda K, Momozawa Y, Fujita M, Muir K, Lophatananon A, Wan P, Le Marchand L, Wilkens LR, Stevens VL, Gapstur SM, Carter BD et al. (2021)
    Publisher Correction: Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction
    Nat Genet, 53 (3), 413
    DOI 10.1038/s41588-021-00786-2, PubMed 33473200
  18. Conti DV, Darst BF, Moss LC, Saunders EJ, Sheng X, Chou A, Schumacher FR, Olama AAA, Benlloch S, Dadaev T, Brook MN, Sahimi A, Hoffmann TJ, Takahashi A, Matsuda K, Momozawa Y, Fujita M, Muir K, Lophatananon A, Wan P, Le Marchand L, Wilkens LR, Stevens VL, Gapstur SM, Carter BD et al. (2021)
    Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction
    Nat Genet, 53 (1), 65-75
    DOI 10.1038/s41588-020-00748-0, PubMed 33398198
  19. Creary LE, Gangavarapu S, Caillier SJ, Cavalcante P, Frangiamore R, Lie BA, Bengtsson M, Harbo HF, Brauner S, Hollenbach JA, Oksenberg JR, Bernasconi P, Maniaol AH, Hammarström L, Mantegazza R, Fernández-Viña MA (2021)
    Next-Generation Sequencing Identifies Extended HLA Class I and II Haplotypes Associated With Early-Onset and Late-Onset Myasthenia Gravis in Italian, Norwegian, and Swedish Populations
    Front Immunol, 12, 667336
    DOI 10.3389/fimmu.2021.667336, PubMed 34163474
  20. Cui XY, Tjønnfjord GE, Kanse SM, Dahm AEA, Iversen N, Myklebust CF, Sun L, Jiang ZX, Ueland T, Campbell JJ, Ho M, Sandset PM (2021)
    Tissue factor pathway inhibitor upregulates CXCR7 expression and enhances CXCL12-mediated migration in chronic lymphocytic leukemia
    Sci Rep, 11 (1), 5127
    DOI 10.1038/s41598-021-84695-8, PubMed 33664415
  21. de Rojas I, Moreno-Grau S, Tesi N, Grenier-Boley B, Andrade V, Jansen IE, Pedersen NL, Stringa N, Zettergren A, Hernández I, Montrreal L, Antúnez C, Antonell A, Tankard RM, Bis JC, Sims R, Bellenguez C, Quintela I, González-Perez A, Calero M, Franco-Macías E, Macías J, Blesa R, Cervera-Carles L, Menéndez-González M et al. (2021)
    Common variants in Alzheimer's disease and risk stratification by polygenic risk scores
    Nat Commun, 12 (1), 3417
    DOI 10.1038/s41467-021-22491-8, PubMed 34099642
  22. DeMichele-Sweet MAA, Klei L, Creese B, Harwood JC, Weamer EA, McClain L, Sims R, Hernandez I, Moreno-Grau S, Tárraga L, Boada M, Alarcón-Martín E, Valero S, NIA-LOAD Family Based Study Consortium, Alzheimer’s Disease Genetics Consortium (ADGC), Liu Y, Hooli B, Aarsland D, Selbaek G, Bergh S, Rongve A, Saltvedt I, Skjellegrind HK, Engdahl B, Stordal E, Andreassen OA et al. (2021)
    Genome-wide association identifies the first risk loci for psychosis in Alzheimer disease
    Mol Psychiatry
    DOI 10.1038/s41380-021-01152-8, PubMed 34112972
  23. Denault WRP, Romanowska J, Haaland ØA, Lyle R, Taylor JA, Xu Z, Lie RT, Gjessing HK, Jugessur A (2021)
    Wavelet Screening identifies regions highly enriched for differentially methylated loci for orofacial clefts
    NAR Genom Bioinform, 3 (2), lqab035
    DOI 10.1093/nargab/lqab035, PubMed 33987535
  24. Engh JA, Ueland T, Agartz I, Andreou D, Aukrust P, Boye B, Bøen E, Drange OK, Elvsåshagen T, Hope S, Høegh MC, Joa I, Johnsen E, Kroken RA, Lagerberg TV, Lekva T, Malt UF, Melle I, Morken G, Nærland T, Steen VM, Wedervang-Resell K, Weibell MA, Westlye LT, Djurovic S et al. (2021)
    Plasma Levels of the Cytokines B Cell-Activating Factor (BAFF) and A Proliferation-Inducing Ligand (APRIL) in Schizophrenia, Bipolar, and Major Depressive Disorder: A Cross Sectional, Multisite Study
    Schizophr Bull (in press)
    DOI 10.1093/schbul/sbab106, PubMed 34499169
  25. Escala-Garcia M, Canisius S, Keeman R, Beesley J, Anton-Culver H, Arndt V, Augustinsson A, Becher H, Beckmann MW, Behrens S, Bermisheva M, Bojesen SE, Bolla MK, Brenner H, Canzian F, Castelao JE, Chang-Claude J, Chanock SJ, Couch FJ, Czene K, Daly MB, Dennis J, Devilee P, Dörk T, Dunning AM et al. (2021)
    Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis
    Sci Rep, 11 (1), 19787
    DOI 10.1038/s41598-021-99409-3, PubMed 34611289
  26. Fiskvik H, Jacobsen AF, Iversen N, Henriksson CE, Jacobsen EM (2021)
    Treatment of Homozygous Type II Antithrombin Heparin-Binding Site Deficiency in Pregnancy
    Case Rep Obstet Gynecol, 2021, 4393821
    DOI 10.1155/2021/4393821, PubMed 34513101
  27. Fjær R, Marciniak K, Sundnes O, Hjorthaug H, Sheng Y, Hammarström C, Sitek JC, Vigeland MD, Backe PH, Øye AM, Fosse JH, Stav-Noraas TE, Uchiyama Y, Matsumoto N, Comi A, Pevsner J, Haraldsen G, Selmer KK (2021)
    A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome
    Hum Mol Genet, 30 (21), 1919-1931
    DOI 10.1093/hmg/ddab144, PubMed 34124757
  28. Fjukstad KK, Athanasiu L, Bahrami S, O'Connell KS, van der Meer D, Bettella F, Dieset I, Steen NE, Djurovic S, Spigset O, Andreassen OA (2021)
    Genetic variants associated with cardiometabolic abnormalities during treatment with selective serotonin reuptake inhibitors: a genome-wide association study
    Pharmacogenomics J, 21 (5), 574-585
    DOI 10.1038/s41397-021-00234-8, PubMed 33824429
  29. Futema M, Ramaswami U, Tichy L, Bogsrud MP, Holven KB, Roeters van Lennep J, Wiegman A, Descamps OS, De Leener A, Fastre E, Vrablik M, Freiberger T, Esterbauer H, Dieplinger H, Greber-Platzer S, Medeiros AM, Bourbon M, Mollaki V, Drogari E, Humphries SE (2021)
    Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries
    Atherosclerosis, 319, 108-117
    DOI 10.1016/j.atherosclerosis.2021.01.008, PubMed 33508743
  30. Gansmo LB, Lie BA, Mæhlen MT, Vatten L, Romundstad P, Hveem K, Lønning PE, Knappskog S (2021)
    Polymorphisms in the TP53-MDM2-MDM4-axis in patients with rheumatoid arthritis
    Gene, 793, 145747
    DOI 10.1016/j.gene.2021.145747, PubMed 34077778
  31. Geoffroy V, Guignard T, Kress A, Gaillard JB, Solli-Nowlan T, Schalk A, Gatinois V, Dollfus H, Scheidecker S, Muller J (2021)
    AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis
    Nucleic Acids Res, 49 (W1), W21-W28
    DOI 10.1093/nar/gkab402, PubMed 34023905
  32. Gilboe HM, Reiakvam OM, Aasen L, Tjade T, Bjerner J, Ranheim TE, Gaustad P (2021)
    Rapid diagnosis and reduced workload for urinary tract infection using flowcytometry combined with direct antibiotic susceptibility testing
    PLoS One, 16 (7), e0254064
    DOI 10.1371/journal.pone.0254064, PubMed 34228764
  33. Gjefsen E, Gervin K, Goll G, Bråten LCH, Wigemyr M, Aass HCD, Vigeland MD, Schistad E, Pedersen LM, Pripp AH, Storheim K, Selmer KK, Zwart JA (2021)
    Macrophage migration inhibitory factor: a potential biomarker for chronic low back pain in patients with Modic changes
    RMD Open, 7 (2)
    DOI 10.1136/rmdopen-2021-001726, PubMed 34344830
  34. Glinton KE, Hurst ACE, Bowling KM, Cristian I, Haynes D, Adstamongkonkul D, Schnappauf O, Beck DB, Brewer C, Parikh AS, Shinde DN, Donaldson A, Brautbar A, Koene S, van Haeringen A, Piton A, Capri Y, Furlan M, Gardella E, Møller RS, van de Beek I, Zuurbier L, Lakeman P, Bayat A, Martinez J et al. (2021)
    Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
    Am J Med Genet A, 185 (5), 1366-1378
    DOI 10.1002/ajmg.a.62102, PubMed 33522091
  35. Gulcebi MI, Bartolini E, Lee O, Lisgaras CP, Onat F, Mifsud J, Striano P, Vezzani A, Hildebrand MS, Jimenez-Jimenez D, Junck L, Lewis-Smith D, Scheffer IE, Thijs RD, Zuberi SM, Blenkinsop S, Fowler HJ, Foley A, Epilepsy Climate Change Consortium, Sisodiya SM (2021)
    Climate change and epilepsy: Insights from clinical and basic science studies
    Epilepsy Behav, 116, 107791
    DOI 10.1016/j.yebeh.2021.107791, PubMed 33578223
  36. Gurholt TP, Kaufmann T, Frei O, Alnæs D, Haukvik UK, van der Meer D, Moberget T, O'Connell KS, Leinhard OD, Linge J, Simon R, Smeland OB, Sønderby IE, Winterton A, Steen NE, Westlye LT, Andreassen OA (2021)
    Population-based body-brain mapping links brain morphology with anthropometrics and body composition
    Transl Psychiatry, 11 (1), 295
    DOI 10.1038/s41398-021-01414-7, PubMed 34006848
  37. Haftorn KL, Lee Y, Denault WRP, Page CM, Nustad HE, Lyle R, Gjessing HK, Malmberg A, Magnus MC, Næss Ø, Czamara D, Räikkönen K, Lahti J, Magnus P, Håberg SE, Jugessur A, Bohlin J (2021)
    An EPIC predictor of gestational age and its application to newborns conceived by assisted reproductive technologies
    Clin Epigenetics, 13 (1), 82
    DOI 10.1186/s13148-021-01055-z, PubMed 33875015
  38. Hajdarevic R, Lande A, Rekeland I, Rydland A, Strand EB, Sosa DD, Creary LE, Mella O, Egeland T, Saugstad OD, Fluge Ø, Lie BA, Viken MK (2021)
    Fine mapping of the major histocompatibility complex (MHC) in myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) suggests involvement of both HLA class I and class II loci
    Brain Behav Immun, 98, 101-109
    DOI 10.1016/j.bbi.2021.08.219, PubMed 34403736
  39. Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, Genetti CA, Suslovitch V, Rodan LH, Tiller GE, Lesca G, Gripp KW, Asadollahi R, Hamosh A, Applegate CD, Turnpenny PD, Simon MEH, Volker-Touw CML, Gassen KLIV, Binsbergen EV, Pfundt R, Gardeitchik T, Vries BBA, Immken LL et al. (2021)
    Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
    Genet Med, 23 (6), 1028-1040
    DOI 10.1038/s41436-021-01114-z, PubMed 33658631
  40. Heinicke F, Zhong X, Flåm ST, Breidenbach J, Leithaug M, Mæhlen MT, Lillegraven S, Aga AB, Norli ES, Mjaavatten MD, Haavardsholm EA, Zucknick M, Rayner S, Lie BA (2021)
    MicroRNA Expression Differences in Blood-Derived CD19+ B Cells of Methotrexate Treated Rheumatoid Arthritis Patients
    Front Immunol, 12, 663736
    DOI 10.3389/fimmu.2021.663736, PubMed 33897713
  41. Hellstrøm T, Andelic N, de Lange AG, Helseth E, Eiklid K, Westlye LT (2021)
    Apolipoprotein ɛ4 Status and Brain Structure 12 Months after Mild Traumatic Injury: Brain Age Prediction Using Brain Morphometry and Diffusion Tensor Imaging
    J Clin Med, 10 (3)
    DOI 10.3390/jcm10030418, PubMed 33499167
  42. Hetemäki I, Kaustio M, Kinnunen M, Heikkilä N, Keskitalo S, Nowlan K, Miettinen S, Sarkkinen J, Glumoff V, Andersson N, Kettunen K, Vanhanen R, Nurmi K, Eklund KK, Dunkel J, Mäyränpää MI, Schlums H, Arstila TP, Kisand K, Bryceson YT, Peterson P, Otava U, Syrjänen J, Saarela J, Varjosalo M et al. (2021)
    Loss-of-function mutation in IKZF2 leads to immunodeficiency with dysregulated germinal center reactions and reduction of MAIT cells
    Sci Immunol, 6 (65), eabe3454
    DOI 10.1126/sciimmunol.abe3454, PubMed 34826260
  43. Hindley G, Bahrami S, Steen NE, O'Connell KS, Frei O, Shadrin A, Bettella F, Rødevand L, Fan CC, Dale AM, Djurovic S, Smeland OB, Andreassen OA (2021)
    Characterising the shared genetic determinants of bipolar disorder, schizophrenia and risk-taking
    Transl Psychiatry, 11 (1), 466
    DOI 10.1038/s41398-021-01576-4, PubMed 34497263
  44. Huynh-Le MP, Fan CC, Karunamuni R, Thompson WK, Martinez ME, Eeles RA, Kote-Jarai Z, Muir K, Schleutker J, Pashayan N, Batra J, Grönberg H, Neal DE, Donovan JL, Hamdy FC, Martin RM, Nielsen SF, Nordestgaard BG, Wiklund F, Tangen CM, Giles GG, Wolk A, Albanes D, Travis RC, Blot WJ et al. (2021)
    Polygenic hazard score is associated with prostate cancer in multi-ethnic populations
    Nat Commun, 12 (1), 1236
    DOI 10.1038/s41467-021-21287-0, PubMed 33623038
  45. Johannessen J, Nærland T, Hope S, Torske T, Kaale A, Wirgenes KV, Malt E, Djurovic S, Rietschel M, Andreassen OA (2021)
    Attitudes among parents of persons with autism spectrum disorder towards information about genetic risk and future health
    Eur J Hum Genet (in press)
    DOI 10.1038/s41431-021-00966-y, PubMed 34776508
  46. Johnsen GM, Fjeldstad HES, Drabbels JJM, Haasnoot GW, Eikmans M, Størvold GL, Alnaes-Katjavivi P, Jacobsen DP, Scherjon SA, Redman CWG, Claas FHJ, Staff AC (2021)
    A possible role for HLA-G in development of uteroplacental acute atherosis in preeclampsia
    J Reprod Immunol, 144, 103284
    DOI 10.1016/j.jri.2021.103284, PubMed 33578175
  47. Johnson N, Maguire S, Morra A, Kapoor PM, Tomczyk K, Jones ME, Schoemaker MJ, Gilham C, Bolla MK, Wang Q, Dennis J, Ahearn TU, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Augustinsson A, Baynes C, Freeman LEB, Beckmann MW, Benitez J, Bermisheva M, Blomqvist C, Boeckx B et al. (2021)
    CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers
    Br J Cancer, 124 (4), 842-854
    DOI 10.1038/s41416-020-01185-w, PubMed 33495599
  48. Kallak TK, Bränn E, Fransson E, Johansson Å, Lager S, Comasco E, Lyle R, Skalkidou A (2021)
    DNA methylation in cord blood in association with prenatal depressive symptoms
    Clin Epigenetics, 13 (1), 78
    DOI 10.1186/s13148-021-01054-0, PubMed 33845866
  49. Karunamuni RA, Huynh-Le MP, Fan CC, Thompson W, Eeles RA, Kote-Jarai Z, Muir K, Lophatananon A, UKGPCS collaborators, Schleutker J, Pashayan N, Batra J, APCB BioResource (Australian Prostate Cancer BioResource), Grönberg H, Walsh EI, Turner EL, Lane A, Martin RM, Neal DE, Donovan JL, Hamdy FC, Nordestgaard BG, Tangen CM, MacInnis RJ, Wolk A et al. (2021)
    Additional SNPs improve risk stratification of a polygenic hazard score for prostate cancer
    Prostate Cancer Prostatic Dis, 24 (2), 532-541
    DOI 10.1038/s41391-020-00311-2, PubMed 33420416
  50. Kaustio M, Nayebzadeh N, Hinttala R, Tapiainen T, Åström P, Mamia K, Pernaa N, Lehtonen J, Glumoff V, Rahikkala E, Honkila M, Olsén P, Hassinen A, Polso M, Al Sukaiti N, Al Shekaili J, Al Kindi M, Al Hashmi N, Almusa H, Bulanova D, Haapaniemi E, Chen P, Suo-Palosaari M, Vieira P, Tuominen H et al. (2021)
    Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction
    J Allergy Clin Immunol, 148 (2), 599-611
    DOI 10.1016/j.jaci.2020.12.656, PubMed 33662367
  51. Khan A, Riudavets Puig R, Boddie P, Mathelier A (2021)
    BiasAway: command-line and web server to generate nucleotide composition-matched DNA background sequences
    Bioinformatics, 37 (11), 1607-1609
    DOI 10.1093/bioinformatics/btaa928, PubMed 33135764
  52. Kour S, Rajan DS, Fortuna TR, Anderson EN, Ward C, Lee Y, Lee S, Shin YB, Chae JH, Choi M, Siquier K, Cantagrel V, Amiel J, Stolerman ES, Barnett SS, Cousin MA, Castro D, McDonald K, Kirmse B, Nemeth AH, Rajasundaram D, Innes AM, Lynch D, Frosk P, Collins A et al. (2021)
    Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
    Nat Commun, 12 (1), 2558
    DOI 10.1038/s41467-021-22627-w, PubMed 33963192
  53. Krull F, Akkouh I, Hughes T, Bettella F, Athanasiu L, Smeland OB, O'Connell KS, Brattbakk HR, Steen VM, Steen NE, Djurovic S, Andreassen OA (2021)
    Dose-dependent transcriptional effects of lithium and adverse effect burden in a psychiatric cohort
    Prog Neuropsychopharmacol Biol Psychiatry, 112, 110408
    DOI 10.1016/j.pnpbp.2021.110408, PubMed 34320404
  54. Kværner AS, Birkeland E, Bucher-Johannessen C, Vinberg E, Nordby JI, Kangas H, Bemanian V, Ellonen P, Botteri E, Natvig E, Rognes T, Hovig E, Lyle R, Ambur OH, de Vos WM, Bultman S, Hjartåker A, Landberg R, Song M, Blix HS, Ursin G, Randel KR, de Lange T, Hoff G, Holme Ø et al. (2021)
    The CRCbiome study: a large prospective cohort study examining the role of lifestyle and the gut microbiome in colorectal cancer screening participants
    BMC Cancer, 21 (1), 930
    DOI 10.1186/s12885-021-08640-8, PubMed 34407780
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    All-Optical Electrophysiology in hiPSC-Derived Neurons With Synthetic Voltage Sensors
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    Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
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    Extensive bidirectional genetic overlap between bipolar disorder and cardiovascular disease phenotypes
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    The impact of demographic and clinical characteristics on the trajectories of health-related quality of life among patients with Fabry disease
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    PKA Cβ: a forgotten catalytic subunit of cAMP-dependent protein kinase opens new windows for PKA signaling and disease pathologies
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    Correction to: Human cytomegalovirus DNA and immediate early protein 1/2 are highly associated with glioma and prognosis
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Publications 2020

  1. Agusti-Ridaura C, Bakke MJ, Helgesen KO, Sundaram AYM, Bakke SJ, Kaur K, Horsberg TE (2020)
    Candidate genes for monitoring hydrogen peroxide resistance in the salmon louse, Lepeophtheirus salmonis
    Parasit Vectors, 13 (1), 344
    DOI 10.1186/s13071-020-04211-1, PubMed 32650825
  2. Akkouh IA, Ueland T, Hansson L, Inderhaug E, Hughes T, Steen NE, Aukrust P, Andreassen OA, Szabo A, Djurovic S (2020)
    Decreased IL-1β-induced CCL20 response in human iPSC-astrocytes in schizophrenia: Potential attenuating effects on recruitment of regulatory T cells
    Brain Behav Immun, 87, 634-644
    DOI 10.1016/j.bbi.2020.02.008, PubMed 32109548
  3. Andresen MS, Stavik B, Sletten M, Tinholt M, Sandset PM, Iversen N, Skretting G (2020)
    Indirect regulation of TFPI-2 expression by miR-494 in breast cancer cells
    Sci Rep, 10 (1), 4036
    DOI 10.1038/s41598-020-61018-x, PubMed 32132611
  4. Bahrami S, Steen NE, Shadrin A, O'Connell K, Frei O, Bettella F, Wirgenes KV, Krull F, Fan CC, Dale AM, Smeland OB, Djurovic S, Andreassen OA (2020)
    Shared Genetic Loci Between Body Mass Index and Major Psychiatric Disorders: A Genome-wide Association Study
    JAMA Psychiatry, 77 (5), 503-512
    DOI 10.1001/jamapsychiatry.2019.4188, PubMed 31913414
  5. Berger TC, Vigeland MD, Hjorthaug HS, Nome CG, Taubøll E, Selmer KK, Heuser K (2020)
    Differential Glial Activation in Early Epileptogenesis-Insights From Cell-Specific Analysis of DNA Methylation and Gene Expression in the Contralateral Hippocampus
    Front Neurol, 11, 573575
    DOI 10.3389/fneur.2020.573575, PubMed 33312155
  6. Bogsrud MP, Øyri LKL, Halvorsen S, Atar D, Leren TP, Holven KB (2020)
    Prevalence of genetically verified familial hypercholesterolemia among young (<45 years) Norwegian patients hospitalized with acute myocardial infarction
    J Clin Lipidol, 14 (3), 339-345
    DOI 10.1016/j.jacl.2020.04.002, PubMed 32418822
  7. Børte S, Zwart JA, Skogholt AH, Gabrielsen ME, Thomas LF, Fritsche LG, Surakka I, Nielsen JB, Zhou W, Wolford BN, Vigeland MD, Hagen K, Kristoffersen ES, Nyholt DR, Chasman DI, Brumpton BM, Willer CJ, Winsvold BS (2020)
    Mitochondrial genome-wide association study of migraine - the HUNT Study
    Cephalalgia, 40 (6), 625-634
    DOI 10.1177/0333102420906835, PubMed 32056457
  8. Brandão A, Paulo P, Maia S, Pinheiro M, Peixoto A, Cardoso M, Silva MP, Santos C, Eeles RA, Kote-Jarai Z, Muir K, Ukgpcs Collaborators, Schleutker J, Wang Y, Pashayan N, Batra J, Apcb BioResource, Grönberg H, Neal DE, Nordestgaard BG, Tangen CM, Southey MC, Wolk A, Albanes D, Haiman CA et al. (2020)
    The CHEK2 Variant C.349A>G Is Associated with Prostate Cancer Risk and Carriers Share a Common Ancestor
    Cancers (Basel), 12 (11)
    DOI 10.3390/cancers12113254, PubMed 33158149
  9. Brunet T, McWalter K, Mayerhanser K, Anbouba GM, Armstrong-Javors A, Bader I, Baugh E, Begtrup A, Bupp CP, Callewaert BL, Cereda A, Cousin MA, Del Rey Jimenez JC, Demmer L, Dsouza NR, Fleischer N, Gavrilova RH, Ghate S, Graf E, Green A, Green SR, Iascone M, Kdissa A, Klee D, Klee EW et al. (2020)
    Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder
    Genet Med, 23 (2), 384-395
    DOI 10.1038/s41436-020-00993-y, PubMed 33173220
  10. Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, Innis JW, Iascone M, Cereda A, Gabbiadini S, Chung WK, Sanders V, Charrow J, Bryant E, Millichap J, Vitobello A et al. (2020)
    Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
    Genet Med, 22 (7), 1215-1226
    DOI 10.1038/s41436-020-0792-7, PubMed 32376980
  11. Chen CA, Crutcher E, Gill H, Nelson TN, Robak LA, Jongmans MCJ, Pfundt R, Prasad C, Berard RA, Fannemel M, Frengen E, Misceo D, Ramsey K, Yang Y, Schaaf CP, Wang X (2020)
    The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome
    Hum Mutat, 41 (10), 1738-1744
    DOI 10.1002/humu.24075, PubMed 32643838
  12. Cogné B, Latypova X, Senaratne LDS, Martin L, Koboldt DC, Kellaris G, Fievet L, Le Meur G, Caldari D, Debray D, Nizon M, Frengen E, Bowne SJ, 99 Lives Consortium, Cadena EL, Daiger SP, Bujakowska KM, Pierce EA, Gorin M, Katsanis N, Bézieau S, Petersen-Jones SM, Occelli LM, Lyons LA, Legeai-Mallet L et al. (2020)
    Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy
    Am J Hum Genet, 106 (6), 893-904
    DOI 10.1016/j.ajhg.2020.04.005, PubMed 32386558
  13. Córdova-Palomera A, van der Meer D, Kaufmann T, Bettella F, Wang Y, Alnæs D, Doan NT, Agartz I, Bertolino A, Buitelaar JK, Coynel D, Djurovic S, Dørum ES, Espeseth T, Fazio L, Franke B, Frei O, Håberg A, Le Hellard S, Jönsson EG, Kolskår KK, Lund MJ, Moberget T, Nordvik JE, Nyberg L et al. (2020)
    Genetic control of variability in subcortical and intracranial volumes
    Mol Psychiatry, 26 (8), 3876-3883
    DOI 10.1038/s41380-020-0664-1, PubMed 32047264
  14. Davidson B, Bock AJ, Holth A, Nymoen DA (2020)
    The phosphatase PTPN1/PTP1B is a candidate marker of better chemotherapy response in metastatic high-grade serous carcinoma
    Cytopathology, 32 (2), 161-168
    DOI 10.1111/cyt.12921, PubMed 33025675
  15. Davidson B, Bock AJ, Holth A, Nymoen DA (2020)
    Expression of palladin is associated with disease progression in metastatic high-grade serous carcinoma
    Cytopathology, 31 (6), 572-578
    DOI 10.1111/cyt.12895, PubMed 32741023
  16. Dominguez-Valentin M, Sampson JR, Seppälä TT, Ten Broeke SW, Plazzer JP, Nakken S, Engel C, Aretz S, Jenkins MA, Sunde L, Bernstein I, Capella G, Balaguer F, Thomas H, Evans DG, Burn J, Greenblatt M, Hovig E, de Vos Tot Nederveen Cappel WH, Sijmons RH, Bertario L, Tibiletti MG, Cavestro GM, Lindblom A, Della Valle A et al. (2020)
    Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
    Genet Med, 22 (9), 1569
    DOI 10.1038/s41436-020-0892-4, PubMed 32690931
  17. Drakulic D, Djurovic S, Syed YA, Trattaro S, Caporale N, Falk A, Ofir R, Heine VM, Chawner SJRA, Rodriguez-Moreno A, van den Bree MBM, Testa G, Petrakis S, Harwood AJ (2020)
    Copy number variants (CNVs): a powerful tool for iPSC-based modelling of ASD
    Mol Autism, 11 (1), 42
    DOI 10.1186/s13229-020-00343-4, PubMed 32487215
  18. Eieland AK, Normann KR, Sundaram AYM, Nyman TA, Øystese KAB, Lekva T, Berg JP, Bollerslev J, Olarescu NC (2020)
    Distinct Pattern of Endoplasmic Reticulum Protein Processing and Extracellular Matrix Proteins in Functioning and Silent Corticotroph Pituitary Adenomas
    Cancers (Basel), 12 (10)
    DOI 10.3390/cancers12102980, PubMed 33066652
  19. Elvsåshagen T, Bahrami S, van der Meer D, Agartz I, Alnæs D, Barch DM, Baur-Streubel R, Bertolino A, Beyer MK, Blasi G, Borgwardt S, Boye B, Buitelaar J, Bøen E, Celius EG, Cervenka S, Conzelmann A, Coynel D, Di Carlo P, Djurovic S, Eisenacher S, Espeseth T, Fatouros-Bergman H, Flyckt L, Franke B et al. (2020)
    The genetic architecture of human brainstem structures and their involvement in common brain disorders
    Nat Commun, 11 (1), 4016
    DOI 10.1038/s41467-020-17376-1, PubMed 32782260
  20. Engen MJ, Lyngstad SH, Ueland T, Simonsen CE, Vaskinn A, Smeland O, Bettella F, Lagerberg TV, Djurovic S, Andreassen OA, Melle I (2020)
    Polygenic scores for schizophrenia and general cognitive ability: associations with six cognitive domains, premorbid intelligence, and cognitive composite score in individuals with a psychotic disorder and in healthy controls
    Transl Psychiatry, 10 (1), 416
    DOI 10.1038/s41398-020-01094-9, PubMed 33257657
  21. Epting D, Senaratne LDS, Ott E, Holmgren A, Sumathipala D, Larsen SM, Wallmeier J, Bracht D, Frikstad KM, Crowley S, Sikiric A, Barøy T, Käsmann-Kellner B, Decker E, Decker C, Bachmann N, Patzke S, Phelps IG, Katsanis N, Giles R, Schmidts M, Zucknick M, Lienkamp SS, Omran H, Davis EE et al. (2020)
    Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome
    Hum Mutat, 41 (12), 2179-2194
    DOI 10.1002/humu.24127, PubMed 33131181
  22. Faughnan ME, Mager JJ, Hetts SW, Palda VA, Lang-Robertson K, Buscarini E, Deslandres E, Kasthuri RS, Lausman A, Poetker D, Ratjen F, Chesnutt MS, Clancy M, Whitehead KJ, Al-Samkari H, Chakinala M, Conrad M, Cortes D, Crocione C, Darling J, de Gussem E, Derksen C, Dupuis-Girod S, Foy P, Geisthoff U et al. (2020)
    Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia
    Ann Intern Med, 173 (12), 989-1001
    DOI 10.7326/M20-1443, PubMed 32894695
  23. Fazio P, Fitzer-Attas CJ, Mrzljak L, Bronzova J, Nag S, Warner JH, Landwehrmeyer B, Al-Tawil N, Halldin C, Forsberg A, Ware J, Dilda V, Wood A, Sampaio C, Varrone A, Svenningsson P, Paucar M, Sundblom J, Nyholm D, Widner H, Heiberg A, Frich J, Nielsen J, Hjermind L, Roos R et al. (2020)
    PET molecular imaging of phosphodiesterase 10A: An early biomarker of Huntington's disease progression
    Mov. Disord., 35 (4), 606-615
    DOI 10.1002/mds.27963
  24. Fredwall SO, Steen U, de Vries O, Rustad CF, Eggesbø HB, Weedon-Fekjær H, Lidal IB, Savarirayan R, Månum G (2020)
    Correction to: High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study
    Orphanet J Rare Dis, 15 (1), 342
    DOI 10.1186/s13023-020-01636-w, PubMed 33287852
  25. Fredwall SO, Steen U, de Vries O, Rustad CF, Eggesbø HB, Weedon-Fekjær H, Lidal IB, Savarirayan R, Månum G (2020)
    High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study
    Orphanet J Rare Dis, 15 (1), 123
    DOI 10.1186/s13023-020-01397-6, PubMed 32450891
  26. Gjefsen E, Bråten LCH, Goll GL, Wigemyr M, Bolstad N, Valberg M, Schistad EI, Marchand GH, Granviken F, Selmer KK, Froholdt A, Haugen AJ, Dagestad MH, Vetti N, Bakland G, Lie BA, Haavardsholm EA, Nilsen AT, Holmgard TE, Kadar TI, Kvien T, Skouen JS, Grøvle L, Brox JI, Espeland A et al. (2020)
    The effect of infliximab in patients with chronic low back pain and Modic changes (the BackToBasic study): study protocol of a randomized, double blind, placebo-controlled, multicenter trial
    BMC Musculoskelet Disord, 21 (1), 698
    DOI 10.1186/s12891-020-03720-5, PubMed 33087100
  27. Grasby KL, Jahanshad N, Painter JN, Colodro-Conde L, Bralten J, Hibar DP, Lind PA, Pizzagalli F, Ching CRK, McMahon MAB, Shatokhina N, Zsembik LCP, Thomopoulos SI, Zhu AH, Strike LT, Agartz I, Alhusaini S, Almeida MAA, Alnæs D, Amlien IK, Andersson M, Ard T, Armstrong NJ, Ashley-Koch A, Atkins JR et al. (2020)
    The genetic architecture of the human cerebral cortex
    Science, 367 (6484)
    DOI 10.1126/science.aay6690, PubMed 32193296
  28. Grimholt U, Fosse JH, Sundaram AYM (2020)
    Selective Stimulation of Duplicated Atlantic Salmon MHC Pathway Genes by Interferon-Gamma
    Front Immunol, 11, 571650
    DOI 10.3389/fimmu.2020.571650, PubMed 33123146
  29. Grindedal EM, Jørgensen K, Olsson P, Gravdehaug B, Lurås H, Schlichting E, Vamre T, Wangensteen T, Heramb C, Mæhle L (2020)
    Mainstreamed genetic testing of breast cancer patients in two hospitals in South Eastern Norway
    Fam Cancer, 19 (2), 133-142
    DOI 10.1007/s10689-020-00160-x, PubMed 32002722
  30. Guderud K, Sunde LH, Flåm ST, Mæhlen MT, Mjaavatten MD, Lillegraven S, Aga AB, Evenrød IM, Norli ES, Andreassen BK, Franzenburg S, Franke A, Haavardsholm EA, Rayner S, Gervin K, Lie BA (2020)
    Rheumatoid Arthritis Patients, Both Newly Diagnosed and Methotrexate Treated, Show More DNA Methylation Differences in CD4+ Memory Than in CD4+ Naïve T Cells
    Front Immunol, 11, 194
    DOI 10.3389/fimmu.2020.00194, PubMed 32117312
  31. Halle KK, Bakke O, Djurovic S, Bye A, Ryeng E, Wisloff U, Andreassen OA, Langaas M (2020)
    Computationally efficient familywise error rate control in genome-wide association studies using score tests for generalized linear models
    Scand. J. Stat., 47 (4), 1090-1113
    DOI 10.1111/sjos.12451
  32. Heinicke F, Zhong X, Zucknick M, Breidenbach J, Sundaram AYM, T Flåm S, Leithaug M, Dalland M, Rayner S, Lie BA, Gilfillan GD (2020)
    An extension to: Systematic assessment of commercially available low-input miRNA library preparation kits
    RNA Biol, 17 (9), 1284-1292
    DOI 10.1080/15476286.2020.1761081, PubMed 32436772
  33. Helgeland H, Gabrielsen I, Akselsen H, Sundaram AYM, Flåm ST, Lie BA (2020)
    Transcriptome profiling of human thymic CD4+ and CD8+ T cells compared to primary peripheral T cells
    BMC Genomics, 21 (1), 350
    DOI 10.1186/s12864-020-6755-1, PubMed 32393182
  34. Henriksen MW, Breck H, Sejersted Y, Diseth T, von Tetzchner S, Paus B, Skjeldal OH (2020)
    Genetic and clinical variations in a Norwegian sample diagnosed with Rett syndrome
    Brain Dev, 42 (7), 484-495
    DOI 10.1016/j.braindev.2020.03.008, PubMed 32336485
  35. Høberg-Vetti H, Ognedal E, Buisson A, Vamre TBA, Ariansen S, Hoover JM, Eide GE, Houge G, Fiskerstrand T, Haukanes BI, Bjorvatn C, Knappskog PM (2020)
    The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23-a likely pathogenic variant with reduced penetrance?
    Eur J Hum Genet, 28 (8), 1078-1086
    DOI 10.1038/s41431-020-0612-1, PubMed 32203205
  36. Hughes T, Hansson L, Akkouh I, Hajdarevic R, Bringsli JS, Torsvik A, Inderhaug E, Steen VM, Djurovic S (2020)
    Runaway multi-allelic copy number variation at the α-defensin locus in African and Asian populations
    Sci Rep, 10 (1), 9101
    DOI 10.1038/s41598-020-65675-w, PubMed 32499510
  37. Jiang X, Rayner S, Luo MH (2020)
    Does SARS-CoV-2 has a longer incubation period than SARS and MERS?
    J Med Virol, 92 (5), 476-478
    DOI 10.1002/jmv.25708, PubMed 32056235
  38. Juvodden HT, Viken MK, Nordstrand SEH, Viste R, Westlye LT, Thorsby PM, Lie BA, Knudsen-Heier S (2020)
    HLA and sleep parameter associations in post-H1N1 narcolepsy type 1 patients and first-degree relatives
    Sleep, 43 (3)
    DOI 10.1093/sleep/zsz239, PubMed 31606740
  39. Kaufmann T, van der Meer D, Doan NT, Schwarz E, Lund MJ, Agartz I, Alnæs D, Barch DM, Baur-Streubel R, Bertolino A, Bettella F, Beyer MK, Bøen E, Borgwardt S, Brandt CL, Buitelaar J, Celius EG, Cervenka S, Conzelmann A, Córdova-Palomera A, Dale AM, de Quervain DJF, Di Carlo P, Djurovic S, Dørum ES et al. (2020)
    Publisher Correction: Common brain disorders are associated with heritable patterns of apparent aging of the brain
    Nat Neurosci, 23 (2), 295
    DOI 10.1038/s41593-019-0553-6, PubMed 31848485
  40. Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E et al. (2020)
    Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants
    Genet Med, 22 (11), 1920
    DOI 10.1038/s41436-020-00944-7, PubMed 32814847
  41. Kjerpeseth LJ, Igland J, Selmer R, Ellekjær H, Tveit A, Berge T, Kalstø SM, Christophersen IE, Myrstad M, Skovlund E, Egeland GM, Tell GS, Ariansen I (2020)
    Prevalence and incidence rates of atrial fibrillation in Norway 2004-2014
    Heart, 107 (3), 201-207
    DOI 10.1136/heartjnl-2020-316624, PubMed 32820014
  42. Kramer I, Hooning MJ, Mavaddat N, Hauptmann M, Keeman R, Steyerberg EW, Giardiello D, Antoniou AC, Pharoah PDP, Canisius S, Abu-Ful Z, Andrulis IL, Anton-Culver H, Aronson KJ, Augustinsson A, Becher H, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bogdanova NV, Bojesen SE, Bolla MK, Bonanni B, Brauch H et al. (2020)
    Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk
    Am J Hum Genet, 107 (5), 837-848
    DOI 10.1016/j.ajhg.2020.09.001, PubMed 33022221
  43. Lande A, Fluge Ø, Strand EB, Flåm ST, Sosa DD, Mella O, Egeland T, Saugstad OD, Lie BA, Viken MK (2020)
    Human Leukocyte Antigen alleles associated with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS)
    Sci Rep, 10 (1), 5267
    DOI 10.1038/s41598-020-62157-x, PubMed 32210306
  44. Lee Y, Haftorn KL, Denault WRP, Nustad HE, Page CM, Lyle R, Lee-Ødegård S, Moen GH, Prasad RB, Groop LC, Sletner L, Sommer C, Magnus MC, Gjessing HK, Harris JR, Magnus P, Håberg SE, Jugessur A, Bohlin J (2020)
    Blood-based epigenetic estimators of chronological age in human adults using DNA methylation data from the Illumina MethylationEPIC array
    BMC Genomics, 21 (1), 747
    DOI 10.1186/s12864-020-07168-8, PubMed 33109080
  45. Levy-Jurgenson A, Tekpli X, Kristensen VN, Yakhini Z (2020)
    Spatial transcriptomics inferred from pathology whole-slide images links tumor heterogeneity to survival in breast and lung cancer
    Sci Rep, 10 (1), 18802
    DOI 10.1038/s41598-020-75708-z, PubMed 33139755
  46. Liu J, Prager-van der Smissen WJC, Collée JM, Bolla MK, Wang Q, Michailidou K, Dennis J, Ahearn TU, Aittomäki K, Ambrosone CB, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Arnold N, Aronson KJ, Augustinsson A, Auvinen P, Becher H, Beckmann MW, Behrens S, Bermisheva M, Bernstein L, Bogdanova NV, Bogdanova-Markov N et al. (2020)
    Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk
    Sci Rep, 10 (1), 9688
    DOI 10.1038/s41598-020-65665-y, PubMed 32546843
  47. Møller P, Dominguez-Valentin M, Rødland EA, Hovig E (2020)
    Correction: Møller, P.; et al. Causes for Frequent Pathogenic BRCA1 Variants Include Low Penetrance in Fertile Ages, Recurrent De-Novo Mutations and Genetic Drift. Cancers 2019, 11, 132
    Cancers (Basel), 12 (2)
    DOI 10.3390/cancers12020410, PubMed 32050665
  48. Mundal LJ, Hovland A, Igland J, Vetrhus M, Veierød MB, Holven KB, Bogsrud MP, Tell GS, Leren TP, Retterstøl K (2020)
    Increased risk of peripheral artery disease in persons with familial hypercholesterolaemia: a prospective registry study
    Eur J Prev Cardiol (in press)
    DOI 10.1093/eurjpc/zwaa024, PubMed 33623989
  49. Myren-Svelstad S, Fjaer R (2020)
    We suggest "seizure prevention epilepsy medication"
    Tidsskr. Nor. Laegeforen., 140 (14), 1422
  50. Powell C, Caleca V, Rhode C, Teixeira da Costa L, van Asch B (2020)
    New Mitochondrial Gene Rearrangement in Psyttalia concolor, P. humilis and P. lounsburyi (Hymenoptera: Braconidae), Three Parasitoid Species of Economic Interest
    Insects, 11 (12)
    DOI 10.3390/insects11120854, PubMed 33276418
  51. Rana MU, Østhus AA, Heimdal K, Jebsen P, Revheim MR, Osnes TA (2020)
    Head and neck paragangliomas in Norway, importance of genetics, updated diagnostic workup and treatment
    Acta Otolaryngol, 141 (3), 303-308
    DOI 10.1080/00016489.2020.1845397, PubMed 33320715
  52. Rekeland IG, Fosså A, Lande A, Ktoridou-Valen I, Sørland K, Holsen M, Tronstad KJ, Risa K, Alme K, Viken MK, Lie BA, Dahl O, Mella O, Fluge Ø (2020)
    Intravenous Cyclophosphamide in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome. An Open-Label Phase II Study
    Front Med (Lausanne), 7, 162
    DOI 10.3389/fmed.2020.00162, PubMed 32411717
  53. Reponen EJ, Dieset I, Tesli M, Mørch RH, Aas M, Vedal TSJ, Haug E, Drange OK, Steen NE, Hope S, Szabo A, Gohar SM, Wedervang-Resell K, Djurovic S, Melle I, Aukrust P, Andreassen OA, Ueland T (2020)
    Atherogenic Lipid Ratios Related to Myeloperoxidase and C-Reactive Protein Levels in Psychotic Disorders
    Front Psychiatry, 11, 672
    DOI 10.3389/fpsyt.2020.00672, PubMed 32754070
  54. Representatives of the Global Familial Hypercholesterolemia Community, Wilemon KA, Patel J, Aguilar-Salinas C, Ahmed CD, Alkhnifsawi M, Almahmeed W, Alonso R, Al-Rasadi K, Badimon L, Bernal LM, Bogsrud MP, Braun LT, Brunham L, Catapano AL, Cillíková K, Corral P, Cuevas R, Defesche JC, Descamps OS, de Ferranti S, Eiselé JL, Elikir G, Folco E, Freiberger T et al. (2020)
    Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action
    JAMA Cardiol, 5 (2), 217-229
    DOI 10.1001/jamacardio.2019.5173, PubMed 31895433
  55. Richards AL, Pardiñas AF, Frizzati A, Tansey KE, Lynham AJ, Holmans P, Legge SE, Savage JE, Agartz I, Andreassen OA, Blokland GAM, Corvin A, Cosgrove D, Degenhardt F, Djurovic S, Espeseth T, Ferraro L, Gayer-Anderson C, Giegling I, van Haren NE, Hartmann AM, Hubert JJ, Jönsson EG, Konte B, Lennertz L et al. (2020)
    The Relationship Between Polygenic Risk Scores and Cognition in Schizophrenia
    Schizophr Bull, 46 (2), 336-344
    DOI 10.1093/schbul/sbz061, PubMed 31206164
  56. Salgado D, Armean IM, Baudis M, Beltran S, Capella-Gutierrez S, Carvalho-Silva D, Dominguez Del Angel V, Dopazo J, Furlong LI, Gao B, Garcia L, Gerloff D, Gut I, Gyenesei A, Habermann N, Hancock JM, Hanauer M, Hovig E, Johansson LF, Keane T, Korbel J, Lauer KB, Laurie S, Leskošek B, Lloyd D et al. (2020)
    The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research
    F1000Res, 9
    DOI 10.12688/f1000research.24887.1, PubMed 34367618
  57. Shadrin AA, Frei O, Smeland OB, Bettella F, O'Connell KS, Gani O, Bahrami S, Uggen TKE, Djurovic S, Holland D, Andreassen OA, Dale AM (2020)
    Phenotype-specific differences in polygenicity and effect size distribution across functional annotation categories revealed by AI-MiXeR
    Bioinformatics, 36 (18), 4749-4756
    DOI 10.1093/bioinformatics/btaa568, PubMed 32539089
  58. Slavotinek A, Misceo D, Htun S, Mathisen L, Frengen E, Foreman M, Hurtig JE, Enyenihi L, Sterrett MC, Leung SW, Schneidman-Duhovny D, Estrada-Veras J, Duncan JL, Haaxma CA, Kamsteeg EJ, Xia V, Beleford D, Si Y, Douglas G, Treidene HE, van Hoof A, Fasken MB, Corbett AH (2020)
    Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness
    Hum Mol Genet, 29 (13), 2218-2239
    DOI 10.1093/hmg/ddaa108, PubMed 32504085
  59. Smeland OB, Bahrami S, Frei O, Shadrin A, O'Connell K, Savage J, Watanabe K, Krull F, Bettella F, Steen NE, Ueland T, Posthuma D, Djurovic S, Dale AM, Andreassen OA (2020)
    Correction: Genome-wide analysis reveals extensive genetic overlap between schizophrenia, bipolar disorder, and intelligence
    Mol Psychiatry, 25 (4), 914
    DOI 10.1038/s41380-019-0456-7, PubMed 31308466
  60. Smeland OB, Shadrin A, Bahrami S, Broce I, Tesli M, Frei O, Wirgenes KV, O'Connell KS, Krull F, Bettella F, Steen NE, Sugrue L, Wang Y, Svenningsson P, Sharma M, Pihlstrøm L, Toft M, O'Donovan M, Djurovic S, Desikan R, Dale AM, Andreassen OA (2020)
    Genome-wide Association Analysis of Parkinson's Disease and Schizophrenia Reveals Shared Genetic Architecture and Identifies Novel Risk Loci
    Biol Psychiatry, 89 (3), 227-235
    DOI 10.1016/j.biopsych.2020.01.026, PubMed 32201043
  61. Smith RL, O'Connell K, Athanasiu L, Djurovic S, Kringen MK, Andreassen OA, Molden E (2020)
    Correction: Identification of a novel polymorphism associated with reduced clozapine concentration in schizophrenia patients-a genome-wide association study adjusting for smoking habits
    Transl Psychiatry, 10 (1), 366
    DOI 10.1038/s41398-020-01061-4, PubMed 33139722
  62. Smith RL, O'Connell K, Athanasiu L, Djurovic S, Kringen MK, Andreassen OA, Molden E (2020)
    Identification of a novel polymorphism associated with reduced clozapine concentration in schizophrenia patients-a genome-wide association study adjusting for smoking habits
    Transl Psychiatry, 10 (1), 198
    DOI 10.1038/s41398-020-00888-1, PubMed 32555152
  63. Sønderby IE, Gústafsson Ó, Doan NT, Hibar DP, Martin-Brevet S, Abdellaoui A, Ames D, Amunts K, Andersson M, Armstrong NJ, Bernard M, Blackburn N, Blangero J, Boomsma DI, Bralten J, Brattbak HR, Brodaty H, Brouwer RM, Bülow R, Calhoun V, Caspers S, Cavalleri G, Chen CH, Cichon S, Ciufolini S et al. (2020)
    Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia
    Mol Psychiatry, 25 (3), 692-695
    DOI 10.1038/s41380-019-0358-8, PubMed 30705424
  64. Sorensen IW, Prescott T, Rustad CF, Blinkenberg EO, von der Lippe C (2020)
    Gene panel testing
    Tidsskr. Nor. Laegeforen., 140 (3), 224-227
  65. Strand J, Gul KA, Erichsen HC, Lundman E, Berge MC, Trømborg AK, Sørgjerd LK, Ytre-Arne M, Hogner S, Halsne R, Gaup HJ, Osnes LT, Kro GAB, Sorte HS, Mørkrid L, Rowe AD, Tangeraas T, Jørgensen JV, Alme C, Bjørndalen TEH, Rønnestad AE, Lang AM, Rootwelt T, Buechner J, Øverland T et al. (2020)
    Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency
    Front Immunol, 11, 1417
    DOI 10.3389/fimmu.2020.01417, PubMed 32754152
  66. Strøm TB, Bjune K, Leren TP (2020)
    Bone morphogenetic protein 1 cleaves the linker region between ligand-binding repeats 4 and 5 of the LDL receptor and makes the LDL receptor non-functional
    Hum Mol Genet, 29 (8), 1229-1238
    DOI 10.1093/hmg/ddz238, PubMed 31600776
  67. Sumathipala D, Strømme P, Gilissen C, Einarsen IH, Bjørndalen HJ, Server A, Corominas J, Hassel B, Fannemel M, Misceo D, Frengen E (2020)
    Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report
    BMC Med Genet, 21 (1), 96
    DOI 10.1186/s12881-020-01024-y, PubMed 32381069
  68. Sumathipala DS, Misceo D, Larsen SM, Barøy T, Gamage TH, Frengen E, Strømme P (2020)
    A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1
    Clin Dysmorphol, 29 (2), 107-110
    DOI 10.1097/MCD.0000000000000314, PubMed 31929336
  69. Sundaram AYM, Garseth ÅH, Maccari G, Grimholt U (2020)
    Correction to: An Illumina approach to MHC typing of Atlantic salmon
    Immunogenetics, 72 (1-2), 133
    DOI 10.1007/s00251-019-01152-7, PubMed 31822946
  70. Sundvold H (2020)
    Triciribine Engages ZFP36L1 and HuR to Stabilize LDLR mRNA
    Molecules, 25 (19)
    DOI 10.3390/molecules25194505, PubMed 33019656
  71. Svendsen K, Krogh HW, Igland J, Tell GS, Mundal LJ, Holven KB, Bogsrud MP, Leren TP, Retterstøl K (2020)
    2.5-fold increased risk of recurrent acute myocardial infarction with familial hypercholesterolemia
    Atherosclerosis, 319, 28-34
    DOI 10.1016/j.atherosclerosis.2020.12.019, PubMed 33465659
  72. Szabo A, Akkouh IA, Ueland T, Lagerberg TV, Dieset I, Bjella T, Aukrust P, Le Hellard S, Stavrum AK, Melle I, Andreassen OA, Djurovic S (2020)
    Cannabis Use Is Associated With Increased Levels of Soluble gp130 in Schizophrenia but Not in Bipolar Disorder
    Front Psychiatry, 11, 642
    DOI 10.3389/fpsyt.2020.00642, PubMed 32714224
  73. Tahiri A, Tekpli X, Satheesh SV, DeWijn R, Lüders T, Bukholm IR, Hurtado A, Geisler J, Kristensen VN (2020)
    Loss of progesterone receptor is associated with distinct tyrosine kinase profiles in breast cancer
    Breast Cancer Res Treat, 183 (3), 585-598
    DOI 10.1007/s10549-020-05763-7, PubMed 32710281
  74. Thompson C, Szabo A (2020)
    Psychedelics as a novel approach to treating autoimmune conditions
    Immunol Lett, 228, 45-54
    DOI 10.1016/j.imlet.2020.10.001, PubMed 33035575
  75. Thompson PM, Jahanshad N, Ching CRK, Salminen LE, Thomopoulos SI, Bright J, Baune BT, Bertolín S, Bralten J, Bruin WB, Bülow R, Chen J, Chye Y, Dannlowski U, de Kovel CGF, Donohoe G, Eyler LT, Faraone SV, Favre P, Filippi CA, Frodl T, Garijo D, Gil Y, Grabe HJ, Grasby KL et al. (2020)
    ENIGMA and global neuroscience: A decade of large-scale studies of the brain in health and disease across more than 40 countries
    Transl Psychiatry, 10 (1), 100
    DOI 10.1038/s41398-020-0705-1, PubMed 32198361
  76. Tillerås KH, Kjoelaas SH, Dramstad E, Feragen KB, von der Lippe C (2020)
    Psychological reactions to predictive genetic testing for Huntington's disease: A qualitative study
    J Genet Couns, 29 (6), 1093-1105
    DOI 10.1002/jgc4.1245, PubMed 32162754
  77. Tinholt M, Stavik B, Tekpli X, Garred Ø, Borgen E, Kristensen V, Sahlberg KK, Sandset PM, Iversen N (2020)
    Coagulation factor V is a marker of tumor-infiltrating immune cells in breast cancer
    Oncoimmunology, 9 (1), 1824644
    DOI 10.1080/2162402X.2020.1824644, PubMed 33457104
  78. Tønne E, Due-Tønnessen BJ, Mero IL, Wiig US, Kulseth MA, Vigeland MD, Sheng Y, von der Lippe C, Tveten K, Meling TR, Helseth E, Heimdal KR (2020)
    Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis
    Eur J Hum Genet, 29 (6), 920-929
    DOI 10.1038/s41431-020-00788-4, PubMed 33288889
  79. Tønne E, Due-Tønnessen BJ, Wiig U, Stadheim BF, Meling TR, Helseth E, Heimdal KR (2020)
    Epidemiology of craniosynostosis in Norway
    J Neurosurg Pediatr, 26 (1), 68-75
    DOI 10.3171/2020.1.PEDS2051, PubMed 32244202
  80. Umu SU, Langseth H, Keller A, Meese E, Helland Å, Lyle R, Rounge TB (2020)
    A 10-year prediagnostic follow-up study shows that serum RNA signals are highly dynamic in lung carcinogenesis
    Mol Oncol, 14 (2), 235-247
    DOI 10.1002/1878-0261.12620, PubMed 31851411
  81. Vad OB, Paludan-Müller C, Ahlberg G, Kalstø SM, Ghouse J, Andreasen L, Haunsø S, Tveit A, Sajadieh A, Christophersen IE, Svendsen JH, Olesen MS (2020)
    Loss-of-Function Variants in Cytoskeletal Genes Are Associated with Early-Onset Atrial Fibrillation
    J Clin Med, 9 (2)
    DOI 10.3390/jcm9020372, PubMed 32013268
  82. Wen L, Zhao F, Qiu Y, Cheng S, Sun JY, Fang W, Rayner S, McVoy MA, Jiang XJ, Tang Q, Li FC, Hu F, Luo MH (2020)
    Human cytomegalovirus DNA and immediate early protein 1/2 are highly associated with glioma and prognosis
    Protein Cell, 11 (7), 525-533
    DOI 10.1007/s13238-020-00696-9, PubMed 32189197
  83. Werner MCF, Wirgenes KV, Haram M, Bettella F, Lunding SH, Rødevand L, Hjell G, Agartz I, Djurovic S, Melle I, Andreassen OA, Steen NE (2020)
    Indicated association between polygenic risk score and treatment-resistance in a naturalistic sample of patients with schizophrenia spectrum disorders
    Schizophr Res, 218, 55-62
    DOI 10.1016/j.schres.2020.03.006, PubMed 32171635
  84. Wintjes LTM, Kava M, van den Brandt FA, van den Brand MAM, Lapina O, Bliksrud YT, Kulseth MA, Amundsen SS, Selberg TR, Ybema-Antoine M, Tutakhel OAZ, Greed L, Thorburn DR, Tangeraas T, Balasubramaniam S, Rodenburg RJT (2020)
    A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction
    Hum Mutat, 42 (2), 135-141
    DOI 10.1002/humu.24137, PubMed 33169484
  85. Writing Committee for the ENIGMA-CNV Working Group, van der Meer D, Sønderby IE, Kaufmann T, Walters GB, Abdellaoui A, Ames D, Amunts K, Andersson M, Armstrong NJ, Bernard M, Blackburn NB, Blangero J, Boomsma DI, Brodaty H, Brouwer RM, Bülow R, Cahn W, Calhoun VD, Caspers S, Cavalleri GL, Ching CRK, Cichon S, Ciufolini S, Corvin A et al. (2020)
    Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition
    JAMA Psychiatry, 77 (4), 420-430
    DOI 10.1001/jamapsychiatry.2019.3779, PubMed 31665216
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    An integrative multi-omics analysis to identify candidate DNA methylation biomarkers related to prostate cancer risk
    Nat Commun, 11 (1), 3905
    DOI 10.1038/s41467-020-17673-9, PubMed 32764609

Publications 2019

  1. Aas M, Djurovic S, Ueland T, Mørch RH, Fjæra Laskemoen J, Reponen EJ, Cattaneo A, Eiel Steen N, Agartz I, Melle I, Andreassen OA (2019)
    The relationship between physical activity, clinical and cognitive characteristics and BDNF mRNA levels in patients with severe mental disorders
    World J Biol Psychiatry, 20 (7), 567-576
    DOI 10.1080/15622975.2018.1557345, PubMed 30560709
  2. Aas M, Elvsåshagen T, Westlye LT, Kaufmann T, Athanasiu L, Djurovic S, Melle I, van der Meer D, Martin-Ruiz C, Steen NE, Agartz I, Andreassen OA (2019)
    Telomere length is associated with childhood trauma in patients with severe mental disorders
    Transl Psychiatry, 9 (1), 97
    DOI 10.1038/s41398-019-0432-7, PubMed 30898995
  3. Akkouh IA, Skrede S, Holmgren A, Ersland KM, Hansson L, Bahrami S, Andreassen OA, Steen VM, Djurovic S, Hughes T (2019)
    Exploring lithium's transcriptional mechanisms of action in bipolar disorder: a multi-step study
    Neuropsychopharmacology, 45 (6), 947-955
    DOI 10.1038/s41386-019-0556-8, PubMed 31652432
  4. Alnæs D, Kaufmann T, van der Meer D, Córdova-Palomera A, Rokicki J, Moberget T, Bettella F, Agartz I, Barch DM, Bertolino A, Brandt CL, Cervenka S, Djurovic S, Doan NT, Eisenacher S, Fatouros-Bergman H, Flyckt L, Di Giorgio A, Haatveit B, Jönsson EG, Kirsch P, Lund MJ, Meyer-Lindenberg A, Pergola G, Schwarz E et al. (2019)
    Brain Heterogeneity in Schizophrenia and Its Association With Polygenic Risk
    JAMA Psychiatry, 76 (7), 739-748
    DOI 10.1001/jamapsychiatry.2019.0257, PubMed 30969333
  5. Aslaksen S, Methlie P, Vigeland MD, Jøssang DE, Wolff AB, Sheng Y, Oftedal BE, Skinningsrud B, Undlien DE, Selmer KK, Husebye ES, Bratland E (2019)
    Coexistence of Congenital Adrenal Hyperplasia and Autoimmune Addison's Disease
    Front Endocrinol (Lausanne), 10, 648
    DOI 10.3389/fendo.2019.00648, PubMed 31611844
  6. Aslaksen S, Wolff AB, Vigeland MD, Breivik L, Sheng Y, Oftedal BE, Artaza H, Skinningsrud B, Undlien DE, Selmer KK, Husebye ES, Bratland E (2019)
    Identification and characterization of rare toll-like receptor 3 variants in patients with autoimmune Addison's disease
    J Transl Autoimmun, 1, 100005
    DOI 10.1016/j.jtauto.2019.100005, PubMed 32743495
  7. Baliakas P, Tesi B, Wartiovaara-Kautto U, Stray-Pedersen A, Friis LS, Dybedal I, Hovland R, Jahnukainen K, Raaschou-Jensen K, Ljungman P, Rustad CF, Lautrup CK, Kilpivaara O, Kittang AO, Grønbæk K, Cammenga J, Hellström-Lindberg E, Andersen MK (2019)
    Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up
    Hemasphere, 3 (6), e321
    DOI 10.1097/HS9.0000000000000321, PubMed 31976490
  8. Berger TC, Vigeland MD, Hjorthaug HS, Etholm L, Nome CG, Taubøll E, Heuser K, Selmer KK (2019)
    Neuronal and glial DNA methylation and gene expression changes in early epileptogenesis
    PLoS One, 14 (12), e0226575
    DOI 10.1371/journal.pone.0226575, PubMed 31887157
  9. Bizuayehu TT, Mommens M, Sundaram AYM, Dhanasiri AKS, Babiak I (2019)
    Postovulatory maternal transcriptome in Atlantic salmon and its relation to developmental potential of embryos
    BMC Genomics, 20 (1), 315
    DOI 10.1186/s12864-019-5667-4, PubMed 31014241
  10. Bjune K, Wierød L, Naderi S (2019)
    Inhibitors of AKT kinase increase LDL receptor mRNA expression by two different mechanisms
    PLoS One, 14 (6), e0218537
    DOI 10.1371/journal.pone.0218537, PubMed 31216345
  11. Bogsrud MP, Græsdal A, Johansen D, Langslet G, Hovland A, Arnesen KE, Mundal LJ, Retterstøl K, Wium C, Holven KB (2019)
    LDL-cholesterol goal achievement, cardiovascular disease, and attributed risk of Lp(a) in a large cohort of predominantly genetically verified familial hypercholesterolemia
    J Clin Lipidol, 13 (2), 279-286
    DOI 10.1016/j.jacl.2019.01.010, PubMed 30910667
  12. Böker T, Vanem TT, Pripp AH, Rand-Hendriksen S, Paus B, Smith HJ, Lundby R (2019)
    Dural ectasia in Marfan syndrome and other hereditary connective tissue disorders: a 10-year follow-up study
    Spine J, 19 (8), 1412-1421
    DOI 10.1016/j.spinee.2019.04.010, PubMed 30998996
  13. Bownass L, Abbs S, Armstrong R, Baujat G, Behzadi G, Berentsen RD, Burren C, Calder A, Cormier-Daire V, Newbury-Ecob R, Foulds N, Juliusson PB, Kant SG, Lefroy H, Mehta SG, Merckoll E, Michot C, Monsell F, Offiah AC, Richards A, Rosendahl K, Rustad CF, Shears D, Tveten K, Wellesley D et al. (2019)
    PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases
    Am J Med Genet A, 179 (9), 1884-1894
    DOI 10.1002/ajmg.a.61282, PubMed 31313512
  14. Bråten LCH, Rolfsen MP, Espeland A, Wigemyr M, Aßmus J, Froholdt A, Haugen AJ, Marchand GH, Kristoffersen PM, Lutro O, Randen S, Wilhelmsen M, Winsvold BS, Kadar TI, Holmgard TE, Vigeland MD, Vetti N, Nygaard ØP, Lie BA, Hellum C, Anke A, Grotle M, Schistad EI, Skouen JS, Grøvle L et al. (2019)
    Efficacy of antibiotic treatment in patients with chronic low back pain and Modic changes (the AIM study): double blind, randomised, placebo controlled, multicentre trial
    BMJ, 367, l5654
    DOI 10.1136/bmj.l5654, PubMed 31619437
  15. Bratlie S, Halvorsen K, Myskja BK, Mellegård H, Bjorvatn C, Frost P, Heiene G, Hofmann B, Holst-Jensen A, Holst-Larsen T, Malnes RS, Paus B, Sandvig B, Sjøli SI, Skarstein B, Thorseth MB, Vagstad N, Våge DI, Borge OJ (2019)
    A novel governance framework for GMO: A tiered, more flexible regulation for GMOs would help to stimulate innovation and public debate
    EMBO Rep, 20 (5)
    DOI 10.15252/embr.201947812, PubMed 31015362
  16. Cernilogar FM, Hasenöder S, Wang Z, Scheibner K, Burtscher I, Sterr M, Smialowski P, Groh S, Evenroed IM, Gilfillan GD, Lickert H, Schotta G (2019)
    Pre-marked chromatin and transcription factor co-binding shape the pioneering activity of Foxa2
    Nucleic Acids Res, 47 (17), 9069-9086
    DOI 10.1093/nar/gkz627, PubMed 31350899
  17. Choquet M, Smolina I, Dhanasiri AKS, Blanco-Bercial L, Kopp M, Jueterbock A, Sundaram AYM, Hoarau G (2019)
    Towards population genomics in non-model species with large genomes: a case study of the marine zooplankton Calanus finmarchicus
    R Soc Open Sci, 6 (2), 180608
    DOI 10.1098/rsos.180608, PubMed 30891252
  18. Creese B, Vassos E, Bergh S, Athanasiu L, Johar I, Rongve A, Medbøen IT, Vasconcelos Da Silva M, Aakhus E, Andersen F, Bettella F, Braekhus A, Djurovic S, Paroni G, Proitsi P, Saltvedt I, Seripa D, Stordal E, Fladby T, Aarsland D, Andreassen OA, Ballard C, Selbaek G, AddNeuroMed consortium and the Alzheimer’s Disease Neuroimaging Initiative (2019)
    Examining the association between genetic liability for schizophrenia and psychotic symptoms in Alzheimer's disease
    Transl Psychiatry, 9 (1), 273
    DOI 10.1038/s41398-019-0592-5, PubMed 31641104
  19. Crosbie EJ, Ryan NAJ, Arends MJ, Bosse T, Burn J, Cornes JM, Crawford R, Eccles D, Frayling IM, Ghaem-Maghami S, Hampel H, Kauff ND, Kitchener HC, Kitson SJ, Manchanda R, McMahon RFT, Monahan KJ, Menon U, Møller P, Möslein G, Rosenthal A, Sasieni P, Seif MW, Singh N, Skarrott P et al. (2019)
    The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome
    Genet Med, 21 (10), 2390-2400
    DOI 10.1038/s41436-019-0489-y, PubMed 30918358
  20. Davies G, Lam M, Harris SE, Trampush JW, Luciano M, Hill WD, Hagenaars SP, Ritchie SJ, Marioni RE, Fawns-Ritchie C, Liewald DCM, Okely JA, Ahola-Olli AV, Barnes CLK, Bertram L, Bis JC, Burdick KE, Christoforou A, DeRosse P, Djurovic S, Espeseth T, Giakoumaki S, Giddaluru S, Gustavson DE, Hayward C et al. (2019)
    Author Correction: Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function
    Nat Commun, 10 (1), 2068
    DOI 10.1038/s41467-019-10160-w, PubMed 31043617
  21. Dominguez-Valentin M, Sampson JR, Seppälä TT, Ten Broeke SW, Plazzer JP, Nakken S, Engel C, Aretz S, Jenkins MA, Sunde L, Bernstein I, Capella G, Balaguer F, Thomas H, Evans DG, Burn J, Greenblatt M, Hovig E, de Vos Tot Nederveen Cappel WH, Sijmons RH, Bertario L, Tibiletti MG, Cavestro GM, Lindblom A, Della Valle A et al. (2019)
    Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
    Genet Med, 22 (1), 15-25
    DOI 10.1038/s41436-019-0596-9, PubMed 31337882
  22. Drange OK, Smeland OB, Shadrin AA, Finseth PI, Witoelar A, Frei O, Psychiatric Genomics Consortium Bipolar Disorder Working Group, Wang Y, Hassani S, Djurovic S, Dale AM, Andreassen OA (2019)
    Genetic Overlap Between Alzheimer's Disease and Bipolar Disorder Implicates the MARK2 and VAC14 Genes
    Front Neurosci, 13, 220
    DOI 10.3389/fnins.2019.00220, PubMed 30930738
  23. Dyment DA, Terhal PA, Rustad CF, Tveten K, Griffith C, Jayakar P, Shinawi M, Ellingwood S, Smith R, van Gassen K, McWalter K, Innes AM, Lines MA (2019)
    De novo substitutions of TRPM3 cause intellectual disability and epilepsy
    Eur J Hum Genet, 27 (10), 1611-1618
    DOI 10.1038/s41431-019-0462-x, PubMed 31278393
  24. Ellervik C, Roselli C, Christophersen IE, Alonso A, Pietzner M, Sitlani CM, Trompet S, Arking DE, Geelhoed B, Guo X, Kleber ME, Lin HJ, Lin H, MacFarlane P, Selvin E, Shaffer C, Smith AV, Verweij N, Weiss S, Cappola AR, Dörr M, Gudnason V, Heckbert S, Mooijaart S, März W et al. (2019)
    Assessment of the Relationship Between Genetic Determinants of Thyroid Function and Atrial Fibrillation: A Mendelian Randomization Study
    JAMA Cardiol, 4 (2), 144-152
    DOI 10.1001/jamacardio.2018.4635, PubMed 30673084
  25. Fosslie M, Manaf A, Lerdrup M, Hansen K, Gilfillan GD, Dahl JA (2019)
    Going low to reach high: Small-scale ChIP-seq maps new terrain
    Wiley Interdiscip Rev Syst Biol Med, 12 (1), e1465
    DOI 10.1002/wsbm.1465, PubMed 31478357
  26. Frei O, Holland D, Smeland OB, Shadrin AA, Fan CC, Maeland S, O'Connell KS, Wang Y, Djurovic S, Thompson WK, Andreassen OA, Dale AM (2019)
    Bivariate causal mixture model quantifies polygenic overlap between complex traits beyond genetic correlation
    Nat Commun, 10 (1), 2417
    DOI 10.1038/s41467-019-10310-0, PubMed 31160569
  27. Furi L, Crawford LA, Rangel-Pineros G, Manso AS, De Ste Croix M, Haigh RD, Kwun MJ, Engelsen Fjelland K, Gilfillan GD, Bentley SD, Croucher NJ, Clokie MR, Oggioni MR (2019)
    Methylation Warfare: Interaction of Pneumococcal Bacteriophages with Their Host
    J Bacteriol, 201 (19)
    DOI 10.1128/JB.00370-19, PubMed 31285240
  28. Gabrielsen ISM, Helgeland H, Akselsen H, D Aass HC, Sundaram AYM, Snowhite IV, Pugliese A, Flåm ST, Lie BA (2019)
    Transcriptomes of antigen presenting cells in human thymus
    PLoS One, 14 (7), e0218858
    DOI 10.1371/journal.pone.0218858, PubMed 31261375
  29. Gamage TH, Lengle E, Gunnes G, Pullisaar H, Holmgren A, Reseland JE, Merckoll E, Corti S, Mizobuchi M, Morales RJ, Tsiokas L, Tjønnfjord GE, Lacruz RS, Lyngstadaas SP, Misceo D, Frengen E (2019)
    STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone
    Cell Calcium, 85, 102110
    DOI 10.1016/j.ceca.2019.102110, PubMed 31785581
  30. Gervin K, Salas LA, Bakulski KM, van Zelm MC, Koestler DC, Wiencke JK, Duijts L, Moll HA, Kelsey KT, Kobor MS, Lyle R, Christensen BC, Felix JF, Jones MJ (2019)
    Systematic evaluation and validation of reference and library selection methods for deconvolution of cord blood DNA methylation data
    Clin Epigenetics, 11 (1), 125
    DOI 10.1186/s13148-019-0717-y, PubMed 31455416
  31. Grove J, Ripke S, Als TD, Mattheisen M, Walters RK, Won H, Pallesen J, Agerbo E, Andreassen OA, Anney R, Awashti S, Belliveau R, Bettella F, Buxbaum JD, Bybjerg-Grauholm J, Bækvad-Hansen M, Cerrato F, Chambert K, Christensen JH, Churchhouse C, Dellenvall K, Demontis D, De Rubeis S, Devlin B, Djurovic S et al. (2019)
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    Mol Psychiatry, 25 (4), 844-853
    DOI 10.1038/s41380-018-0332-x, PubMed 30610197
  90. Smeland OB, Frei O, Shadrin A, O'Connell K, Fan CC, Bahrami S, Holland D, Djurovic S, Thompson WK, Dale AM, Andreassen OA (2019)
    Discovery of shared genomic loci using the conditional false discovery rate approach
    Hum Genet, 139 (1), 85-94
    DOI 10.1007/s00439-019-02060-2, PubMed 31520123
  91. Stahl EA, Breen G, Forstner AJ, McQuillin A, Ripke S, Trubetskoy V, Mattheisen M, Wang Y, Coleman JRI, Gaspar HA, de Leeuw CA, Steinberg S, Pavlides JMW, Trzaskowski M, Byrne EM, Pers TH, Holmans PA, Richards AL, Abbott L, Agerbo E, Akil H, Albani D, Alliey-Rodriguez N, Als TD, Anjorin A et al. (2019)
    Genome-wide association study identifies 30 loci associated with bipolar disorder
    Nat Genet, 51 (5), 793-803
    DOI 10.1038/s41588-019-0397-8, PubMed 31043756
  92. Steen NE, Dieset I, Hope S, Vedal TSJ, Smeland OB, Matson W, Kaddurah-Daouk R, Agartz I, Melle I, Djurovic S, Jönsson EG, Bogdanov M, Andreassen OA (2019)
    Metabolic dysfunctions in the kynurenine pathway, noradrenergic and purine metabolism in schizophrenia and bipolar disorders
    Psychol Med, 50 (4), 595-606
    DOI 10.1017/S0033291719000400, PubMed 30867076
  93. Steineger J, Geirdal AØ, Osnes T, Heimdal KR, Dheyauldeen S (2019)
    Intranasal bevacizumab injections improve quality of life in HHT patients
    Laryngoscope, 130 (5), E284-E288
    DOI 10.1002/lary.28179, PubMed 31287573
  94. Strøm TB, Bjune K, Costa LTD, Leren TP (2019)
    Strategies to prevent cleavage of the linker region between ligand-binding repeats 4 and 5 of the LDL receptor
    Hum Mol Genet, 28 (22), 3734-3741
    DOI 10.1093/hmg/ddz164, PubMed 31332430
  95. Strøm TB, Vinje T, Bjune K, da Costa LT, Laerdahl JK, Leren TP (2019)
    Lysosomal acid lipase does not have a propeptide and should not be considered being a proprotein
    Proteins, 88 (3), 440-448
    DOI 10.1002/prot.25821, PubMed 31587363
  96. Sud A, Thomsen H, Law PJ, Försti A, da Silva Filho MI, Holroyd A, Broderick P, Orlando G, Lenive O, Wright L, Cooke R, Easton D, Pharoah P, Dunning A, Peto J, Canzian F, Eeles R, Kote-Jarai Z, Muir K, Pashayan N, PRACTICAL consortium, Hoffmann P, Nöthen MM, Jöckel KH, von Strandmann EP et al. (2019)
    Author Correction: Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility
    Nat Commun, 10 (1), 157
    DOI 10.1038/s41467-018-08105-w, PubMed 30622283
  97. Sumathipala D, Strømme P, Gilissen C, Corominas J, Frengen E, Misceo D (2019)
    TBCK Encephaloneuropathy With Abnormal Lysosomal Storage: Use of a Structural Variant Bioinformatics Pipeline on Whole-Genome Sequencing Data Unravels a 20-Year-Old Clinical Mystery
    Pediatr Neurol, 96, 74-75
    DOI 10.1016/j.pediatrneurol.2019.02.001, PubMed 30898414
  98. Sundaram AYM, Garseth ÅH, Maccari G, Grimholt U (2019)
    An Illumina approach to MHC typing of Atlantic salmon
    Immunogenetics, 72 (1-2), 89-100
    DOI 10.1007/s00251-019-01143-8, PubMed 31713647
  99. Syvertsen M, Selmer K, Enger U, Nakken KO, Pal DK, Smith A, Koht J (2019)
    Psychosocial complications in juvenile myoclonic epilepsy
    Epilepsy Behav, 90, 122-128
    DOI 10.1016/j.yebeh.2018.11.022, PubMed 30530133
  100. Tao XY, Li ML, Wang Q, Baima C, Hong M, Li W, Wu YB, Li YR, Zhao YM, Rayner S, Zhu WY (2019)
    The reemergence of human rabies and emergence of an Indian subcontinent lineage in Tibet, China
    PLoS Negl Trop Dis, 13 (1), e0007036
    DOI 10.1371/journal.pntd.0007036, PubMed 30640911
  101. Ten Broeke SW, Rodríguez-Girondo M, Suerink M, Aretz S, Bernstein I, Capellá G, Engel C, Gomez-Garcia EB, van Hest LP, von Knebel Doeberitz M, Lagerstedt-Robinson K, Letteboer TGW, Moller P, van Os TA, Pineda M, Rahner N, Olderode-Berends MJW, von Salomé J, Schackert HK, Spruijt L, Steinke-Lange V, Wagner A, Tops CMJ, Nielsen M (2019)
    The Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect
    Cancer Epidemiol Biomarkers Prev, 28 (6), 1010-1014
    DOI 10.1158/1055-9965.EPI-18-0576, PubMed 30824524
  102. Vals MA, Ashikov A, Ilves P, Loorits D, Zeng Q, Barone R, Huijben K, Sykut-Cegielska J, Diogo L, Elias AF, Greenwood RS, Grunewald S, van Hasselt PM, van de Kamp JM, Mancini G, Okninska A, Pajusalu S, Rudd PM, Rustad CF, Salvarinova R, de Vries BBA, Wolf NI, EPGEN Study, Ng BG, Freeze HH et al. (2019)
    Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients
    J Inherit Metab Dis, 42 (3), 553-564
    DOI 10.1002/jimd.12055, PubMed 30746764
  103. Vijayakrishnan J, Studd J, Broderick P, Kinnersley B, Holroyd A, Law PJ, Kumar R, Allan JM, Harrison CJ, Moorman AV, Vora A, Roman E, Rachakonda S, Kinsey SE, Sheridan E, Thompson PD, Irving JA, Koehler R, Hoffmann P, Nöthen MM, Heilmann-Heimbach S, Jöckel KH, Easton DF, Pharaoh PDP, Dunning AM et al. (2019)
    Author Correction: Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia
    Nat Commun, 10 (1), 419
    DOI 10.1038/s41467-018-08106-9, PubMed 30664635
  104. Vinje T, Laerdahl JK, Bjune K, Leren TP, Strøm TB (2019)
    Characterization of the mechanisms by which missense mutations in the lysosomal acid lipase gene disrupt enzymatic activity
    Hum Mol Genet, 28 (18), 3043-3052
    DOI 10.1093/hmg/ddz114, PubMed 31131398
  105. Wangensteen T, Felde CN, Ahmed D, Mæhle L, Ariansen SL (2019)
    Diagnostic mRNA splicing assay for variants in BRCA1 and BRCA2 identified two novel pathogenic splicing aberrations
    Hered Cancer Clin Pract, 17, 14
    DOI 10.1186/s13053-019-0113-9, PubMed 31143303
  106. Went M, Sud A, Försti A, Halvarsson BM, Weinhold N, Kimber S, van Duin M, Thorleifsson G, Holroyd A, Johnson DC, Li N, Orlando G, Law PJ, Ali M, Chen B, Mitchell JS, Gudbjartsson DF, Kuiper R, Stephens OW, Bertsch U, Broderick P, Campo C, Bandapalli OR, Einsele H, Gregory WA et al. (2019)
    Author Correction: Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma
    Nat Commun, 10 (1), 213
    DOI 10.1038/s41467-018-08107-8, PubMed 30631080
  107. Wikenius E, Myhre AM, Page CM, Moe V, Smith L, Heiervang ER, Undlien DE, LeBlanc M (2019)
    Prenatal maternal depressive symptoms and infant DNA methylation: a longitudinal epigenome-wide study
    Nord J Psychiatry, 73 (4-5), 257-263
    DOI 10.1080/08039488.2019.1613446, PubMed 31070508
  108. Wu L, Wang JF, Cai QY, Cavazos TB, Emami NC, Long JR, Shu XO, Lu YC, Guo XY, Bauer JA, Pasaniuc B, Penney KL, Freedman ML, Kote-Jarai Z, Witte JS, Haiman CA, Eeles RA, Zheng W, Benlloch S, Henderson BE, Conti DV, Schumacher FR, Easton D, Al Olama AA, Muir K et al. (2019)
    Identification of Novel Susceptibility Loci and Genes for Prostate Cancer Risk: A Transcriptome-Wide Association Study in over 140,000 European Descendants
    Cancer Res., 79 (13), 3192-3204
    DOI 10.1158/0008-5472.CAN-18-3536
  109. Zhong X, Heinicke F, Lie BA, Rayner S (2019)
    Accurate Adapter Information Is Crucial for Reproducibility and Reusability in Small RNA Seq Studies
    Noncoding RNA, 5 (4)
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  110. Zhong X, Heinicke F, Rayner S (2019)
    miRBaseMiner, a tool for investigating miRBase content
    RNA Biol, 16 (11), 1534-1546
    DOI 10.1080/15476286.2019.1637680, PubMed 31251108
  111. Zhong X, Pla A, Rayner S (2019)
    Jasmine: a Java pipeline for isomiR characterization in miRNA-Seq Data
    Bioinformatics, 36 (6), 1933-1936
    DOI 10.1093/bioinformatics/btz806, PubMed 31681943

Publications 2018

  1. Adams CD, Richmond R, Ferreira DLS, Spiller W, Tan V, Zheng J, Würtz P, Donovan J, Hamdy F, Neal D, Lane JA, Smith GD, Relton C, Eeles RA, Haiman CA, Kote-Jarai Z, Schumacher FR, Olama AAA, Benlloch S, Muir K, Berndt SI, Conti DV, Wiklund F, Chanock SJ, Gapstur S et al. (2018)
    Circulating Metabolic Biomarkers of Screen-Detected Prostate Cancer in the ProtecT Study
    Cancer Epidemiol Biomarkers Prev, 28 (1), 208-216
    DOI 10.1158/1055-9965.EPI-18-0079, PubMed 30352818
  2. Akkouh IA, Ueland T, Andreassen OA, Brattbakk HR, Steen VM, Hughes T, Djurovic S (2018)
    Expression of TCN1 in Blood is Negatively Associated with Verbal Declarative Memory Performance
    Sci Rep, 8 (1), 12654
    DOI 10.1038/s41598-018-30898-5, PubMed 30139959
  3. Bakke KA, Howlin P, Retterstøl L, Kanavin ØJ, Heiberg A, Nærland T (2018)
    Effect of epilepsy on autism symptoms in Angelman syndrome
    Mol Autism, 9, 2
    DOI 10.1186/s13229-017-0185-1, PubMed 29340132
  4. Bakke MJ, Agusti C, Bruusgaard JC, Sundaram AYM, Horsberg TE (2018)
    Deltamethrin resistance in the salmon louse, Lepeophtheirus salmonis (Krøyer): Maternal inheritance and reduced apoptosis
    Sci Rep, 8 (1), 8450
    DOI 10.1038/s41598-018-26420-6, PubMed 29855496
  5. Berg AO, Jørgensen KN, Nerhus M, Athanasiu L, Popejoy AB, Bettella F, Norbom LCB, Gurholt TP, Dahl SR, Andreassen OA, Djurovic S, Agartz I, Melle I (2018)
    Vitamin D levels, brain volume, and genetic architecture in patients with psychosis
    PLoS One, 13 (8), e0200250
    DOI 10.1371/journal.pone.0200250, PubMed 30142216
  6. Bjune K, Sundvold H, Leren TP, Naderi S (2018)
    MK-2206, an allosteric inhibitor of AKT, stimulates LDLR expression and LDL uptake: A potential hypocholesterolemic agent
    Atherosclerosis, 276, 28-38
    DOI 10.1016/j.atherosclerosis.2018.07.009, PubMed 30025252
  7. Bjune K, Wierød L, Naderi S (2018)
    Triciribine increases LDLR expression and LDL uptake through stabilization of LDLR mRNA
    Sci Rep, 8 (1), 16174
    DOI 10.1038/s41598-018-34237-6, PubMed 30385871
  8. Cockerell I, Guenin M, Heimdal K, Bjørnvold M, Selmer KK, Rouvière O (2018)
    Renal manifestations of tuberous sclerosis complex: patients' and parents' knowledge and routines for renal follow-up - a questionnaire study
    BMC Nephrol, 19 (1), 39
    DOI 10.1186/s12882-018-0835-3, PubMed 29439672
  9. Czajkowski N, Aggen SH, Krueger RF, Kendler KS, Neale MC, Knudsen GP, Gillespie NA, Røysamb E, Tambs K, Reichborn-Kjennerud T (2018)
    A Twin Study of Normative Personality and DSM-IV Personality Disorder Criterion Counts: Evidence for Separate Genetic Influences
    Am J Psychiatry, 175 (7), 649-656
    DOI 10.1176/appi.ajp.2017.17050493, PubMed 29558815
  10. Dadaev T, Saunders EJ, Newcombe PJ, Anokian E, Leongamornlert DA, Brook MN, Cieza-Borrella C, Mijuskovic M, Wakerell S, Olama AAA, Schumacher FR, Berndt SI, Benlloch S, Ahmed M, Goh C, Sheng X, Zhang Z, Muir K, Govindasami K, Lophatananon A, Stevens VL, Gapstur SM, Carter BD, Tangen CM, Goodman P et al. (2018)
    Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants
    Nat Commun, 9 (1), 2256
    DOI 10.1038/s41467-018-04109-8, PubMed 29892050
  11. Dahl JA, Gilfillan GD (2018)
    How low can you go? Pushing the limits of low-input ChIP-seq
    Brief Funct Genomics, 17 (2), 89-95
    DOI 10.1093/bfgp/elx037, PubMed 29087438
  12. Davies G, Lam M, Harris SE, Trampush JW, Luciano M, Hill WD, Hagenaars SP, Ritchie SJ, Marioni RE, Fawns-Ritchie C, Liewald DCM, Okely JA, Ahola-Olli AV, Barnes CLK, Bertram L, Bis JC, Burdick KE, Christoforou A, DeRosse P, Djurovic S, Espeseth T, Giakoumaki S, Giddaluru S, Gustavson DE, Hayward C et al. (2018)
    Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function
    Nat Commun, 9 (1), 2098
    DOI 10.1038/s41467-018-04362-x, PubMed 29844566
  13. de Jong S, Diniz MJA, Saloma A, Gadelha A, Santoro ML, Ota VK, Noto C, Major Depressive Disorder and Bipolar Disorder Working Groups of the Psychiatric Genomics Consortium, Curtis C, Newhouse SJ, Patel H, Hall LS, O Reilly PF, Belangero SI, Bressan RA, Breen G (2018)
    Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder
    Commun Biol, 1, 163
    DOI 10.1038/s42003-018-0155-y, PubMed 30320231
  14. Dejgaard LA, Haland TF, Lie OH, Ribe M, Bjune T, Leren IS, Berge KE, Edvardsen T, Haugaa KH (2018)
    Vigorous exercise in patients with hypertrophic cardiomyopathy
    Int J Cardiol, 250, 157-163
    DOI 10.1016/j.ijcard.2017.07.015, PubMed 29169752
  15. Dieset I, Mørch RH, Hope S, Hoseth EZ, Reponen EJ, Gran JM, Aas M, Michelsen AE, Reichborn-Kjennerud T, Nesvåg R, Agartz I, Melle I, Aukrust P, Djurovic S, Ueland T, Andreassen OA (2018)
    An association between YKL-40 and type 2 diabetes in psychotic disorders
    Acta Psychiatr Scand, 139 (1), 37-45
    DOI 10.1111/acps.12971, PubMed 30328100
  16. Dominguez-Valentin M, Evans DGR, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Martins A, Møller P, Hovig E (2018)
    Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds
    Hered Cancer Clin Pract, 16, 4
    DOI 10.1186/s13053-018-0086-0, PubMed 29371908
  17. Dominguez-Valentin M, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Martins A, Møller P, Hovig E (2018)
    Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families
    Fam Cancer, 17 (1), 141-153
    DOI 10.1007/s10689-017-0011-0, PubMed 28608266
  18. Dominguez-Valentin M, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Martins A, Møller P, Hovig E (2018)
    Identification of genetic variants for clinical management of familial colorectal tumors
    BMC Med Genet, 19 (1), 26
    DOI 10.1186/s12881-018-0533-9, PubMed 29458332
  19. Dusanov S, Ruzzin J, Kiviranta H, Klemsdal TO, Retterstøl L, Rantakokko P, Airaksinen R, Djurovic S, Tonstad S (2018)
    Associations between persistent organic pollutants and metabolic syndrome in morbidly obese individuals
    Nutr Metab Cardiovasc Dis, 28 (7), 735-742
    DOI 10.1016/j.numecd.2018.03.004, PubMed 29699815
  20. EAS Familial Hypercholesterolaemia Studies Collaboration, Vallejo-Vaz AJ, De Marco M, Stevens CAT, Akram A, Freiberger T, Hovingh GK, Kastelein JJP, Mata P, Raal FJ, Santos RD, Soran H, Watts GF, Abifadel M, Aguilar-Salinas CA, Al-Khnifsawi M, AlKindi FA, Alnouri F, Alonso R, Al-Rasadi K, Al-Sarraf A, Ashavaid TF, Binder CJ, Bogsrud MP, Bourbon M et al. (2018)
    Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
    Atherosclerosis, 277, 234-255
    DOI 10.1016/j.atherosclerosis.2018.08.051, PubMed 30270054
  21. Ebenesersdóttir SS, Sandoval-Velasco M, Gunnarsdóttir ED, Jagadeesan A, Guðmundsdóttir VB, Thordardóttir EL, Einarsdóttir MS, Moore KHS, Sigurðsson Á, Magnúsdóttir DN, Jónsson H, Snorradóttir S, Hovig E, Møller P, Kockum I, Olsson T, Alfredsson L, Hansen TF, Werge T, Cavalleri GL, Gilbert E, Lalueza-Fox C, Walser JW, Kristjánsdóttir S, Gopalakrishnan S et al. (2018)
    Ancient genomes from Iceland reveal the making of a human population
    Science, 360 (6392), 1028-1032
    DOI 10.1126/science.aar2625, PubMed 29853688
  22. Eguíluz-Gracia I, Malmstrom K, Dheyauldeen SA, Lohi J, Sajantila A, Aaløkken R, Sundaram AYM, Gilfillan GD, Makela M, Baekkevold ES, Jahnsen FL (2018)
    Monocytes accumulate in the airways of children with fatal asthma
    Clin Exp Allergy, 48 (12), 1631-1639
    DOI 10.1111/cea.13265, PubMed 30184280
  23. Falkenberg-Jensen B, Heimdal KR, Høgevold HE, Jablonski GE, Due-Tønnessen BJ, Hopp E (2018)
    Abnormally wide eustachian tubes involving the sphenoid bone: A collection
    Laryngoscope Investig Otolaryngol, 3 (3), 214-217
    DOI 10.1002/lio2.158, PubMed 30062137
  24. Fjermestad KW, Nyhus L, Kanavin ØJ, Heiberg A, Hoxmark LB (2018)
    Health Survey of Adults with Neurofibromatosis 1 Compared to Population Study Controls
    J Genet Couns, 27 (5), 1102-1110
    DOI 10.1007/s10897-018-0229-5, PubMed 29429039
  25. Gamage TH, Gunnes G, Lee RH, Louch WE, Holmgren A, Bruton JD, Lengle E, Kolstad TRS, Revold T, Amundsen SS, Dalen KT, Holme PA, Tjønnfjord GE, Christensen G, Westerblad H, Klungland A, Bergmeier W, Misceo D, Frengen E (2018)
    STIM1 R304W causes muscle degeneration and impaired platelet activation in mice
    Cell Calcium, 76, 87-100
    DOI 10.1016/j.ceca.2018.10.001, PubMed 30390422
  26. Guderud K, Mæhlen MT, Nordang GBN, Viken MK, Andreassen BK, Molberg Ø, Flåm ST, Lie BA (2018)
    Lack of Association among Peptidyl Arginine Deiminase Type 4 Autoantibodies, PADI4 Polymorphisms, and Clinical Characteristics in Rheumatoid Arthritis
    J Rheumatol, 45 (9), 1211-1219
    DOI 10.3899/jrheum.170769, PubMed 29858238
  27. Hasselberg NE, Berge KE, Rasmussen M, Früh A, Ørstavik K, Haugaa KH (2018)
    [Cardiomyopathy in hereditary muscular dystrophies]
    Tidsskr Nor Laegeforen, 138 (1)
    DOI 10.4045/tidsskr.16.0683, PubMed 29313627
  28. Hasselberg NE, Haland TF, Saberniak J, Brekke PH, Berge KE, Leren TP, Edvardsen T, Haugaa KH (2018)
    Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation
    Eur Heart J, 39 (10), 853-860
    DOI 10.1093/eurheartj/ehx596, PubMed 29095976
  29. Henriksen MW, Breck H, von Tetzchner S, Paus B, Skjeldal OH, Brodtkorb E (2018)
    Epilepsy in classic Rett syndrome: Course and characteristics in adult age
    Epilepsy Res, 145, 134-139
    DOI 10.1016/j.eplepsyres.2018.06.012, PubMed 29966812
  30. Henriksen MW, Ravn K, Paus B, von Tetzchner S, Skjeldal OH (2018)
    De novo mutations in SCN1A are associated with classic Rett syndrome: a case report
    BMC Med Genet, 19 (1), 184
    DOI 10.1186/s12881-018-0700-z, PubMed 30305042
  31. Heramb C, Wangensteen T, Grindedal EM, Ariansen SL, Lothe S, Heimdal KR, Mæhle L (2018)
    BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway
    Hered Cancer Clin Pract, 16, 3
    DOI 10.1186/s13053-017-0085-6, PubMed 29339979
  32. Hjorthaug HS, Gervin K, Mowinckel P, Munthe-Kaas MC (2018)
    Exploring the influence from whole blood DNA extraction methods on Infinium 450K DNA methylation
    PLoS One, 13 (12), e0208699
    DOI 10.1371/journal.pone.0208699, PubMed 30540848
  33. Hoseth EZ, Krull F, Dieset I, Mørch RH, Hope S, Gardsjord ES, Steen NE, Melle I, Brattbakk HR, Steen VM, Aukrust P, Djurovic S, Andreassen OA, Ueland T (2018)
    Attenuated Notch signaling in schizophrenia and bipolar disorder
    Sci Rep, 8 (1), 5349
    DOI 10.1038/s41598-018-23703-w, PubMed 29593239
  34. Hoseth EZ, Krull F, Dieset I, Mørch RH, Hope S, Gardsjord ES, Steen NE, Melle I, Brattbakk HR, Steen VM, Aukrust P, Djurovic S, Andreassen OA, Ueland T (2018)
    Exploring the Wnt signaling pathway in schizophrenia and bipolar disorder
    Transl Psychiatry, 8 (1), 55
    DOI 10.1038/s41398-018-0102-1, PubMed 29507296
  35. Hovland A, Mundal LJ, Igland J, Veierød MB, Holven KB, Bogsrud MP, Tell GS, Leren TP, Retterstøl K (2018)
    Risk of Ischemic Stroke and Total Cerebrovascular Disease in Familial Hypercholesterolemia
    Stroke, 50 (1), 172-174
    DOI 10.1161/STROKEAHA.118.023456, PubMed 30580708
  36. Hughes T, Sønderby IE, Polushina T, Hansson L, Holmgren A, Athanasiu L, Melbø-Jørgensen C, Hassani S, Hoeffding LK, Herms S, Bergen SE, Karlsson R, Song J, Rietschel M, Nöthen MM, Forstner AJ, Hoffmann P, Hultman CM, Landén M, Cichon S, Werge T, Andreassen OA, Le Hellard S, Djurovic S (2018)
    Elevated expression of a minor isoform of ANK3 is a risk factor for bipolar disorder
    Transl Psychiatry, 8 (1), 210
    DOI 10.1038/s41398-018-0175-x, PubMed 30297702
  37. Jiang X, Dong X, Li SH, Zhou YP, Rayner S, Xia HM, Gao GF, Yuan H, Tang YP, Luo MH (2018)
    Proteomic Analysis of Zika Virus Infected Primary Human Fetal Neural Progenitors Suggests a Role for Doublecortin in the Pathological Consequences of Infection in the Cortex
    Front Microbiol, 9, 1067
    DOI 10.3389/fmicb.2018.01067, PubMed 29922247
  38. Johnsen GM, Størvold GL, Drabbels JJM, Haasnoot GW, Eikmans M, Spruyt-Gerritse MJ, Alnæs-Katjavivi P, Scherjon SA, Redman CWG, Claas FHJ, Staff AC (2018)
    The combination of maternal KIR-B and fetal HLA-C2 is associated with decidua basalis acute atherosis in pregnancies with preeclampsia
    J Reprod Immunol, 129, 23-29
    DOI 10.1016/j.jri.2018.07.005, PubMed 30055414
  39. Jørstad ØK, Ødegaard EM, Heimdal KR, Kerty E (2018)
    Leber Hereditary Optic Neuropathy Caused by a Mitochondrial DNA 10663T>C Point Mutation and Its Response to Idebenone Treatment
    J Neuroophthalmol, 38 (1), 129-131
    DOI 10.1097/WNO.0000000000000598, PubMed 29210930
  40. Kaikkonen E, Rantapero T, Zhang Q, Taimen P, Laitinen V, Kallajoki M, Jambulingam D, Ettala O, Knaapila J, Boström PJ, Wahlström G, Sipeky C, Pursiheimo JP, Tammela T, Kellokumpu-Lehtinen PL, PRACTICAL Consortium, Fey V, Maehle L, Wiklund F, Wei GH, Schleutker J (2018)
    ANO7 is associated with aggressive prostate cancer
    Int J Cancer, 143 (10), 2479-2487
    DOI 10.1002/ijc.31746, PubMed 30157291
  41. Kaufmann T, Alnæs D, Brandt CL, Bettella F, Djurovic S, Andreassen OA, Westlye LT (2018)
    Stability of the Brain Functional Connectome Fingerprint in Individuals With Schizophrenia
    JAMA Psychiatry, 75 (7), 749-751
    DOI 10.1001/jamapsychiatry.2018.0844, PubMed 29799905
  42. Kaveh F, Baumbusch LO, Nebdal D, Børresen-Dale AL, Lingjærde OC, Edvardsen H, Kristensen VN, Solvang HK (2018)
    Correction to: A systematic comparison of copy number alterations in four types of female cancer
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  107. Witoelar A, Rongve A, Almdahl IS, Ulstein ID, Engvig A, White LR, Selbæk G, Stordal E, Andersen F, Brækhus A, Saltvedt I, Engedal K, Hughes T, Bergh S, Bråthen G, Bogdanovic N, Bettella F, Wang Y, Athanasiu L, Bahrami S, Le Hellard S, Giddaluru S, Dale AM, Sando SB, Steinberg S et al. (2018)
    Meta-analysis of Alzheimer's disease on 9,751 samples from Norway and IGAP study identifies four risk loci
    Sci Rep, 8 (1), 18088
    DOI 10.1038/s41598-018-36429-6, PubMed 30591712
  108. Yang B, Liu XJ, Yao Y, Jiang X, Wang XZ, Yang H, Sun JY, Miao Y, Wang W, Huang ZL, Wang Y, Tang Q, Rayner S, Britt WJ, McVoy MA, Luo MH, Zhao F (2018)
    WDR5 Facilitates Human Cytomegalovirus Replication by Promoting Capsid Nuclear Egress
    J Virol, 92 (9)
    DOI 10.1128/JVI.00207-18, PubMed 29437978
  109. Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Stray-Pedersen A, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L et al. (2018)
    Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies
    Genet Med, 21 (3), 663-675
    DOI 10.1038/s41436-018-0085-6, PubMed 30158690
  110. Zuber V, Jönsson EG, Frei O, Witoelar A, Thompson WK, Schork AJ, Bettella F, Wang Y, Djurovic S, Smeland OB, Dieset I, Fanous AH, Desikan RS, Küry S, Bézieau S, Dale AM, Mills IG, Andreassen OA (2018)
    Identification of shared genetic variants between schizophrenia and lung cancer
    Sci Rep, 8 (1), 674
    DOI 10.1038/s41598-017-16481-4, PubMed 29330379

Publications 2017

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

Publications 2016

  1. Adams HH, Hibar DP, Chouraki V, Stein JL, Nyquist PA, Rentería ME, Trompet S, Arias-Vasquez A, Seshadri S, Desrivières S, Beecham AH, Jahanshad N, Wittfeld K, Van der Lee SJ, Abramovic L, Alhusaini S, Amin N, Andersson M, Arfanakis K, Aribisala BS, Armstrong NJ, Athanasiu L, Axelsson T, Beiser A, Bernard M et al. (2016)
    Novel genetic loci underlying human intracranial volume identified through genome-wide association
    Nat Neurosci, 19 (12), 1569-1582
    DOI 10.1038/nn.4398, PubMed 27694991
  2. Ali HO, Arroyo AB, González-Conejero R, Stavik B, Iversen N, Sandset PM, Martínez C, Skretting G (2016)
    The role of microRNA-27a/b and microRNA-494 in estrogen-mediated downregulation of tissue factor pathway inhibitor α
    J Thromb Haemost, 14 (6), 1226-37
    DOI 10.1111/jth.13321, PubMed 26999003
  3. Ali HO, Stavik B, Myklebust CF, Andersen E, Dahm AE, Iversen N, Sandset PM, Skretting G (2016)
    Oestrogens Downregulate Tissue Factor Pathway Inhibitor through Oestrogen Response Elements in the 5'-Flanking Region
    PLoS One, 11 (3), e0152114
    DOI 10.1371/journal.pone.0152114, PubMed 26999742
  4. Ansari M, Rainger J, Hanson IM, Williamson KA, Sharkey F, Harewood L, Sandilands A, Clayton-Smith J, Dollfus H, Bitoun P, Meire F, Fantes J, Franco B, Lorenz B, Taylor DS, Stewart F, Willoughby CE, McEntagart M, Khaw PT, Clericuzio C, Van Maldergem L, Williams D, Newbury-Ecob R, Traboulsi EI, Silva ED et al. (2016)
    Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome
    PLoS One, 11 (4), e0153757
    DOI 10.1371/journal.pone.0153757, PubMed 27124303
  5. Athanasiu L, Giddaluru S, Fernandes C, Christoforou A, Reinvang I, Lundervold AJ, Nilsson LG, Kauppi K, Adolfsson R, Eriksson E, Sundet K, Djurovic S, Espeseth T, Nyberg L, Steen VM, Andreassen OA, Le Hellard S (2016)
    A genetic association study of CSMD1 and CSMD2 with cognitive function
    Brain Behav Immun, 61, 209-216
    DOI 10.1016/j.bbi.2016.11.026, PubMed 27890662
  6. Barøy T, Pedurupillay CR, Bliksrud YT, Rasmussen M, Holmgren A, Vigeland MD, Hughes T, Brink M, Rodenburg R, Nedregaard B, Strømme P, Frengen E, Misceo D (2016)
    A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13
    Eur J Med Genet, 59 (6-7), 342-6
    DOI 10.1016/j.ejmg.2016.05.005, PubMed 27182039
  7. Beulig F, Urich T, Nowak M, Trumbore SE, Gleixner G, Gilfillan GD, Fjelland KE, Küsel K (2016)
    Altered carbon turnover processes and microbiomes in soils under long-term extremely high CO2 exposure
    Nat Microbiol, 1, 15025
    DOI 10.1038/nmicrobiol.2015.25, PubMed 27571979
  8. Borsting J, Culen AL, Eike MC (2016)
    AIDING GENETIC ANALYSTS: DESIGN OF A LITERATURE EVALUATION SYSTEM
    IADIS-Int. J. Comput. Sci. Inf. Syst., 11 (1), 1-16
  9. Carmona FD, Vaglio A, Mackie SL, Hernández-Rodríguez J, Monach PA, Castañeda S, Solans R, Morado IC, Narváez J, Ramentol-Sintas M, Pease CT, Dasgupta B, Watts R, Khalidi N, Langford CA, Ytterberg S, Boiardi L, Beretta L, Govoni M, Emmi G, Bonatti F, Cimmino MA, Witte T, Neumann T, Holle J et al. (2016)
    A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis
    Am J Hum Genet, 100 (1), 64-74
    DOI 10.1016/j.ajhg.2016.11.013, PubMed 28041642
  10. Cui XY, Tinholt M, Stavik B, Dahm AE, Kanse S, Jin Y, Seidl S, Sahlberg KK, Iversen N, Skretting G, Sandset PM (2016)
    Effect of hypoxia on tissue factor pathway inhibitor expression in breast cancer
    J Thromb Haemost, 14 (2), 387-96
    DOI 10.1111/jth.13206, PubMed 26598923
  11. Demain LA, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Jenkinson EM, Lourenco CM, Heiberg A, Pearce SH, Shalev SA, Yue WW, Mackinnon S, Munro KJ, Newbury-Ecob R, Becker K, Kim MJ, O' Keefe RT, Newman WG (2016)
    Expanding the genotypic spectrum of Perrault syndrome
    Clin Genet, 91 (2), 302-312
    DOI 10.1111/cge.12776, PubMed 26970254
  12. Dominguez-Valentin M, Gras Navarro A, Rahman AM, Kumar S, Retière C, Ulvestad E, Kristensen V, Lund-Johansen M, Lie BA, Enger PØ, Njølstad G, Kristoffersen E, Lie SA, Chekenya M (2016)
    Identification of a Natural Killer Cell Receptor Allele That Prolongs Survival of Cytomegalovirus-Positive Glioblastoma Patients
    Cancer Res, 76 (18), 5326-36
    DOI 10.1158/0008-5472.CAN-16-1162, PubMed 27406829
  13. Evans DG, Harkness EF, Howell A, Wilson M, Hurley E, Holmen MM, Tharmaratnam KU, Hagen AI, Lim Y, Maxwell AJ, Moller P (2016)
    Intensive breast screening in BRCA2 mutation carriers is associated with reduced breast cancer specific and all cause mortality
    Hered Cancer Clin Pract, 14, 8
    DOI 10.1186/s13053-016-0048-3, PubMed 27087880
  14. Falk A, Heine VM, Harwood AJ, Sullivan PF, Peitz M, Brüstle O, Shen S, Sun YM, Glover JC, Posthuma D, Djurovic S (2016)
    Modeling psychiatric disorders: from genomic findings to cellular phenotypes
    Mol Psychiatry, 21 (9), 1321
    DOI 10.1038/mp.2016.100, PubMed 27324182
  15. Falk A, Heine VM, Harwood AJ, Sullivan PF, Peitz M, Brüstle O, Shen S, Sun YM, Glover JC, Posthuma D, Djurovic S (2016)
    Modeling psychiatric disorders: from genomic findings to cellular phenotypes
    Mol Psychiatry, 21 (9), 1167-79
    DOI 10.1038/mp.2016.89, PubMed 27240529
  16. Filges I, Bruder E, Brandal K, Meier S, Undlien DE, Waage TR, Hoesli I, Schubach M, de Beer T, Sheng Y, Hoeller S, Schulzke S, Røsby O, Miny P, Tercanli S, Oppedal T, Meyer P, Selmer KK, Strømme P (2016)
    Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF
    Hum Mutat, 37 (7), 711
    DOI 10.1002/humu.22997, PubMed 27300082
  17. Filges I, Bruder E, Brandal K, Meier S, Undlien DE, Waage TR, Hoesli I, Schubach M, de Beer T, Sheng Y, Hoeller S, Schulzke S, Røsby O, Miny P, Tercanli S, Oppedal T, Meyer P, Selmer KK, Strømme P (2016)
    Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF
    Hum Mutat, 37 (4), 359-63
    DOI 10.1002/humu.22960, PubMed 26820108
  18. Gabrielsen IS, Amundsen SS, Helgeland H, Flåm ST, Hatinoor N, Holm K, Viken MK, Lie BA (2016)
    Genetic risk variants for autoimmune diseases that influence gene expression in thymus
    Hum Mol Genet, 25 (14), 3117-3124
    DOI 10.1093/hmg/ddw152, PubMed 27199374
  19. Gabrielsen IS, Viken MK, Amundsen SS, Helgeland H, Holm K, Flåm ST, Lie BA (2016)
    Autoimmune risk variants in ERAP2 are associated with gene-expression levels in thymus
    Genes Immun, 17 (7), 406-411
    DOI 10.1038/gene.2016.39, PubMed 27829666
  20. Gervin K, Andreassen BK, Hjorthaug HS, Carlsen KCL, Carlsen KH, Undlien DE, Lyle R, Munthe-Kaas MC (2016)
    Intra-individual changes in DNA methylation not mediated by cell-type composition are correlated with aging during childhood
    Clin Epigenetics, 8, 110
    DOI 10.1186/s13148-016-0277-3, PubMed 27785156
  21. Gervin K, Page CM, Aass HC, Jansen MA, Fjeldstad HE, Andreassen BK, Duijts L, van Meurs JB, van Zelm MC, Jaddoe VW, Nordeng H, Knudsen GP, Magnus P, Nystad W, Staff AC, Felix JF, Lyle R (2016)
    Cell type specific DNA methylation in cord blood: A 450K-reference data set and cell count-based validation of estimated cell type composition
    Epigenetics, 11 (9), 690-698
    DOI 10.1080/15592294.2016.1214782, PubMed 27494297
  22. Goscinski MA, Hole KH, Tønne E, Ryder T, Grøholt KK, Flatmark K (2016)
    Fibromatosis in vertical rectus abdominis myocutaneous flap imitating tumor recurrence after surgery for locally advanced rectal cancer: case report
    World J Surg Oncol, 14, 63
    DOI 10.1186/s12957-016-0818-4, PubMed 26940557
  23. Gunnarsson B, Jónsdóttir GA, Björnsdóttir G, Konte B, Sulem P, Kristmundsdóttir S, Kehr B, Gústafsson Ó, Helgason H, Iordache PD, Ólafsson S, Frigge ML, Þorleifsson G, Arnarsdóttir S, Stefánsdóttir B, Giegling I, Djurovic S, Sundet KS, Espeseth T, Melle I, Hartmann AM, Thorsteinsdottir U, Kong A, Guðbjartsson DF, Ettinger U et al. (2016)
    A sequence variant associating with educational attainment also affects childhood cognition
    Sci Rep, 6, 36189
    DOI 10.1038/srep36189, PubMed 27811963
  24. Gustavsen MW, Celius EG, Winsvold BS, Moen SM, Nygaard GO, Berg-Hansen P, Lie BA, Zwart JA, Harbo HF (2016)
    Migraine and frequent tension-type headache are not associated with multiple sclerosis in a Norwegian case-control study
    Mult Scler J Exp Transl Clin, 2, 2055217316682976
    DOI 10.1177/2055217316682976, PubMed 28607748
  25. Haram M, Bettella F, Brandt CL, Quintana DS, Nerhus M, Bjella T, Djurovic S, Westlye LT, Andreassen OA, Melle I, Tesli M (2016)
    Contribution of oxytocin receptor polymorphisms to amygdala activation in schizophrenia spectrum disorders
    BJPsych Open, 2 (6), 353-358
    DOI 10.1192/bjpo.bp.116.003376, PubMed 27847593
  26. Henriksen EK, Jørgensen KK, Kaveh F, Holm K, Hamm D, Olweus J, Melum E, Chung BK, Eide TJ, Lundin KE, Boberg KM, Karlsen TH, Hirschfield GM, Liaskou E (2016)
    Gut and liver T-cells of common clonal origin in primary sclerosing cholangitis-inflammatory bowel disease
    J Hepatol, 66 (1), 116-122
    DOI 10.1016/j.jhep.2016.09.002, PubMed 27647428
  27. Johannessen J, Nærland T, Bloss C, Rietschel M, Strohmaier J, Gjevik E, Heiberg A, Djurovic S, Andreassen OA (2016)
    Parents' attitudes toward genetic research in autism spectrum disorder
    Psychiatr Genet, 26 (2), 74-80
    DOI 10.1097/YPG.0000000000000121, PubMed 26867185
  28. Johansen A, Rosti RO, Musaev D, Sticca E, Harripaul R, Zaki M, Çağlayan AO, Azam M, Sultan T, Froukh T, Reis A, Popp B, Ahmed I, John P, Ayub M, Ben-Omran T, Vincent JB, Gleeson JG, Abou Jamra R (2016)
    Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features
    Am J Hum Genet, 99 (4), 912-916
    DOI 10.1016/j.ajhg.2016.07.019, PubMed 27616480
  29. Jørgensen SF, Reims HM, Frydenlund D, Holm K, Paulsen V, Michelsen AE, Jørgensen KK, Osnes LT, Bratlie J, Eide TJ, Dahl CP, Holter E, Tronstad RR, Hanevik K, Brattbakk HR, Kaveh F, Fiskerstrand T, Kran AB, Ueland T, Karlsen TH, Aukrust P, Lundin KE, Fevang B (2016)
    A Cross-Sectional Study of the Prevalence of Gastrointestinal Symptoms and Pathology in Patients With Common Variable Immunodeficiency
    Am J Gastroenterol, 111 (10), 1467-1475
    DOI 10.1038/ajg.2016.329, PubMed 27527747
  30. Kaufmann T, Alnæs D, Brandt CL, Doan NT, Kauppi K, Bettella F, Lagerberg TV, Berg AO, Djurovic S, Agartz I, Melle IS, Ueland T, Andreassen OA, Westlye LT (2016)
    Task modulations and clinical manifestations in the brain functional connectome in 1615 fMRI datasets
    Neuroimage, 147, 243-252
    DOI 10.1016/j.neuroimage.2016.11.073, PubMed 27916665
  31. Kaveh F, Baumbusch LO, Nebdal D, Børresen-Dale AL, Lingjærde OC, Edvardsen H, Kristensen VN, Solvang HK (2016)
    A systematic comparison of copy number alterations in four types of female cancer
    BMC Cancer, 16 (1), 913
    DOI 10.1186/s12885-016-2899-4, PubMed 27876019
  32. Kotsopoulos J, Huzarski T, Gronwald J, Moller P, Lynch HT, Neuhausen SL, Senter L, Demsky R, Foulkes WD, Eng C, Karlan B, Tung N, Singer CF, Sun P, Lubinski J, Narod SA (2016)
    Hormone replacement therapy after menopause and risk of breast cancer in BRCA1 mutation carriers: a case-control study
    Breast Cancer Res Treat, 155 (2), 365-73
    DOI 10.1007/s10549-016-3685-3, PubMed 26780555
  33. Kotsopoulos J, Huzarski T, Gronwald J, Singer CF, Moller P, Lynch HT, Armel S, Karlan B, Foulkes WD, Neuhausen SL, Senter L, Tung N, Weitzel JN, Eisen A, Metcalfe K, Eng C, Pal T, Evans G, Sun P, Lubinski J, Narod SA, Hereditary Breast Cancer Clinical Study Group (2016)
    Bilateral Oophorectomy and Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
    J Natl Cancer Inst, 109 (1)
    DOI 10.1093/jnci/djw177, PubMed 27601060
  34. Kuehn HS, Boisson B, Cunningham-Rundles C, Reichenbach J, Stray-Pedersen A, Gelfand EW, Maffucci P, Pierce KR, Abbott JK, Voelkerding KV, South ST, Augustine NH, Bush JS, Dolen WK, Wray BB, Itan Y, Cobat A, Sorte HS, Ganesan S, Prader S, Martins TB, Lawrence MG, Orange JS, Calvo KR, Niemela JE et al. (2016)
    Loss of B Cells in Patients with Heterozygous Mutations in IKAROS
    N Engl J Med, 374 (11), 1032-1043
    DOI 10.1056/NEJMoa1512234, PubMed 26981933
  35. Lee S, Norheim F, Langleite TM, Noreng HJ, Storås TH, Afman LA, Frost G, Bell JD, Thomas EL, Kolnes KJ, Tangen DS, Stadheim HK, Gilfillan GD, Gulseth HL, Birkeland KI, Jensen J, Drevon CA, Holen T, NutriTech Consortium (2016)
    Effect of energy restriction and physical exercise intervention on phenotypic flexibility as examined by transcriptomics analyses of mRNA from adipose tissue and whole body magnetic resonance imaging
    Physiol Rep, 4 (21)
    DOI 10.14814/phy2.13019, PubMed 27821717
  36. Lekva T, Lyle R, Roland MC, Friis C, Bianchi DW, Jaffe IZ, Norwitz ER, Bollerslev J, Henriksen T, Ueland T (2016)
    Gene expression in term placentas is regulated more by spinal or epidural anesthesia than by late-onset preeclampsia or gestational diabetes mellitus
    Sci Rep, 6, 29715
    DOI 10.1038/srep29715, PubMed 27405415
  37. Lemke JR, Geider K, Helbig KL, Heyne HO, Schütz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Møller RS, Hjalgrim H, Lal D, Neubauer BA, Nürnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Strømme P, Dlugos DJ et al. (2016)
    Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy
    Neurology, 86 (23), 2171-8
    DOI 10.1212/WNL.0000000000002740, PubMed 27164704
  38. Leren TP, Strøm TB, Berge KE (2016)
    Variable phenotypic expression of nonsense mutation p.Thr5* in the APOE gene
    Mol Genet Metab Rep, 9, 67-70
    DOI 10.1016/j.ymgmr.2016.10.007, PubMed 27830118
  39. Lien S, Koop BF, Sandve SR, Miller JR, Kent MP, Nome T, Hvidsten TR, Leong JS, Minkley DR, Zimin A, Grammes F, Grove H, Gjuvsland A, Walenz B, Hermansen RA, von Schalburg K, Rondeau EB, Di Genova A, Samy JK, Olav Vik J, Vigeland MD, Caler L, Grimholt U, Jentoft S, Våge DI et al. (2016)
    The Atlantic salmon genome provides insights into rediploidization
    Nature, 533 (7602), 200-5
    DOI 10.1038/nature17164, PubMed 27088604
  40. Lund C, Striano P, Sorte HS, Parisi P, Iacomino M, Sheng Y, Vigeland MD, Øye AM, Møller RS, Selmer KK, Zara F (2016)
    Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome
    Mol Syndromol, 7 (4), 234-238
    DOI 10.1159/000448367, PubMed 27781033
  41. 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
    DOI 10.1016/j.bpsc.2015.09.002, PubMed 26949748
  42. Marshall CR, Howrigan DP, Merico D, Thiruvahindrapuram B, Wu W, Greer DS, Antaki D, Shetty A, Holmans PA, Pinto D, Gujral M, Brandler WM, Malhotra D, Wang Z, Fajarado KVF, Maile MS, Ripke S, Agartz I, Albus M, Alexander M, Amin F, Atkins J, Bacanu SA, Belliveau RA, Bergen SE et al. (2016)
    Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
    Nat Genet, 49 (1), 27-35
    DOI 10.1038/ng.3725, PubMed 27869829
  43. Mathapati S, Siller R, Impellizzeri AA, Lycke M, Vegheim K, Almaas R, Sullivan GJ (2016)
    Small-Molecule-Directed Hepatocyte-Like Cell Differentiation of Human Pluripotent Stem Cells
    Curr Protoc Stem Cell Biol, 38, 1G.6.1-1G.6.18
    DOI 10.1002/cpsc.13, PubMed 27532814
  44. McEntagart M, Williamson KA, Rainger JK, Wheeler A, Seawright A, De Baere E, Verdin H, Bergendahl LT, Quigley A, Rainger J, Dixit A, Sarkar A, López Laso E, Sanchez-Carpintero R, Barrio J, Bitoun P, Prescott T, Riise R, McKee S, Cook J, McKie L, Ceulemans B, Meire F, Temple IK, Prieur F et al. (2016)
    A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
    Am J Hum Genet, 98 (5), 981-992
    DOI 10.1016/j.ajhg.2016.03.018, PubMed 27108798
  45. Mehta D, Tropf FC, Gratten J, Bakshi A, Zhu Z, Bacanu SA, Hemani G, Magnusson PK, Barban N, Esko T, Metspalu A, Snieder H, Mowry BJ, Kendler KS, Yang J, Visscher PM, McGrath JJ, Mills MC, Wray NR, Lee SH, Schizophrenia Working Group of the Psychiatric Genomics Consortium, LifeLines Cohort Study, and TwinsUK, Andreassen OA, Bramon E, Bruggeman R, Buxbaum JD et al. (2016)
    Evidence for Genetic Overlap Between Schizophrenia and Age at First Birth in Women
    JAMA Psychiatry, 73 (5), 497-505
    DOI 10.1001/jamapsychiatry.2016.0129, PubMed 27007234
  46. Moen MN, Fjær R, Hamdani EH, Laerdahl JK, Menchini RJ, Vigeland MD, Sheng Y, Undlien DE, Hassel B, Salih MA, El Khashab HY, Selmer KK, Chaudhry FA (2016)
    Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport
    Brain, 139 (Pt 12), 3109-3120
    DOI 10.1093/brain/aww244, PubMed 27742667
  47. Møller P, Seppälä T, Bernstein I, Holinski-Feder E, Sala P, Evans DG, Lindblom A, Macrae F, Blanco I, Sijmons R, Jeffries J, Vasen H, Burn J, Nakken S, Hovig E, Rødland EA, Tharmaratnam K, de Vos Tot Nederveen Cappel WH, Hill J, Wijnen J, Jenkins M, Green K, Lalloo F, Sunde L, Mints M et al. (2016)
    Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database
    Gut, 66 (9), 1657-1664
    DOI 10.1136/gutjnl-2016-311403, PubMed 27261338
  48. Møllersen L, Moldestad O, Rowe AD, Bjølgerud A, Holm I, Tveterås L, Klungland A, Retterstøl L (2016)
    Effects of Anthocyanins on CAG Repeat Instability and Behaviour in Huntington's Disease R6/1 Mice
    PLoS Curr, 8
    DOI 10.1371/currents.hd.58d04209ab6d5de0844db7ef5628ff67, PubMed 27540492
  49. Mørch RH, Dieset I, Færden A, Hope S, Aas M, Nerhus M, Gardsjord ES, Joa I, Morken G, Agartz I, Aukrust P, Djurovic S, Melle I, Ueland T, Andreassen OA (2016)
    Inflammatory evidence for the psychosis continuum model
    Psychoneuroendocrinology, 67, 189-97
    DOI 10.1016/j.psyneuen.2016.02.011, PubMed 26923849
  50. Mundal L, Igland J, Ose L, Holven KB, Veierød MB, Leren TP, Retterstøl K (2016)
    Cardiovascular disease mortality in patients with genetically verified familial hypercholesterolemia in Norway during 1992-2013
    Eur J Prev Cardiol, 24 (2), 137-144
    DOI 10.1177/2047487316676135, PubMed 27794106
  51. Mundal L, Veierød MB, Halvorsen T, Holven KB, Ose L, Iversen PO, Tell GS, Leren TP, Retterstøl K (2016)
    Cardiovascular disease in patients with genotyped familial hypercholesterolemia in Norway during 1994-2009, a registry study
    Eur J Prev Cardiol, 23 (18), 1962-1969
    DOI 10.1177/2047487316666371, PubMed 27558979
  52. 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
    DOI 10.3109/13668250.2016.1167845
  53. Nylenna M, Breivik N, Heiberg A, Larsen Ø (2016)
    [«A most strange instance of illness in several siblings»--first description of a rare neurological disease in 1830?]
    Tidsskr Nor Laegeforen, 136 (5), 437-40
    DOI 10.4045/tidsskr.15.0844, PubMed 26983149
  54. Opsahl EM, Brauckhoff M, Schlichting E, Helset K, Svartberg J, Brauckhoff K, Mæhle L, Engebretsen LF, Sigstad E, Grøholt KK, Akslen LA, Jørgensen LH, Varhaug JE, Bjøro T (2016)
    A Nationwide Study of Multiple Endocrine Neoplasia Type 2A in Norway: Predictive and Prognostic Factors for the Clinical Course of Medullary Thyroid Carcinoma
    Thyroid, 26 (9), 1225-38
    DOI 10.1089/thy.2015.0673, PubMed 27400880
  55. Ougland R, Jonson I, Moen MN, Nesse G, Asker G, Klungland A, Larsen E (2016)
    Role of ALKBH1 in the Core Transcriptional Network of Embryonic Stem Cells
    Cell Physiol Biochem, 38 (1), 173-84
    DOI 10.1159/000438619, PubMed 26765775
  56. Pedurupillay CR, Amundsen SS, Barøy T, Rasmussen M, Blomhoff A, Stadheim BF, Ørstavik K, Holmgren A, Iqbal T, Frengen E, Misceo D, Strømme P (2016)
    Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2
    Neuromuscul Disord, 26 (9), 570-5
    DOI 10.1016/j.nmd.2016.06.457, PubMed 27450922
  57. Pedurupillay CR, Landsend EC, Vigeland MD, Ansar M, Frengen E, Misceo D, Strømme P (2016)
    Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
    Genes (Basel), 7 (8)
    DOI 10.3390/genes7080041, PubMed 27472364
  58. Peng Q, Schork A, Bartsch H, Lo MT, Panizzon MS, Pediatric Imaging, Neurocognition and Genetics Study, Alzheimer’s Disease Neuroimaging Initiative, Westlye LT, Kremen WS, Jernigan TL, Le Hellard S, Steen VM, Espeseth T, Huentelman M, Håberg AK, Agartz I, Djurovic S, Andreassen OA, Dale AM, Schork NJ, Chen CH (2016)
    Conservation of Distinct Genetically-Mediated Human Cortical Pattern
    PLoS Genet, 12 (7), e1006143
    DOI 10.1371/journal.pgen.1006143, PubMed 27459196
  59. Pingitore P, Lepore SM, Pirazzi C, Mancina RM, Motta BM, Valenti L, Berge KE, Retterstøl K, Leren TP, Wiklund O, Romeo S (2016)
    Identification and characterization of two novel mutations in the LPL gene causing type I hyperlipoproteinemia
    J Clin Lipidol, 10 (4), 816-823
    DOI 10.1016/j.jacl.2016.02.015, PubMed 27578112
  60. Prescott TE, Kulseth MA, Heimdal KR, Stadheim B, Hopp E, Gambin T, Coban Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Stray-Pedersen A (2016)
    Two male sibs with severe micrognathia and a missense variant in MED12
    Eur J Med Genet, 59 (8), 367-72
    DOI 10.1016/j.ejmg.2016.06.001, PubMed 27286923
  61. Quiles F, Teulé À, Martinussen Tandstad N, Feliubadaló L, Tornero E, Del Valle J, Menéndez M, Salinas M, Wethe Rognlien V, Velasco A, Izquierdo A, Capellá G, Brunet J, Lázaro C (2016)
    Identification of a founder BRCA1 mutation in the Moroccan population
    Clin Genet, 90 (4), 361-5
    DOI 10.1111/cge.12747, PubMed 26864382
  62. Røsby O, Legati A, Coppola G (2016)
    Primary familial brain calcification in a Norwegian family, caused by a novel SLC20A2 gene mutation
    J Neurol, 263 (3), 594-6
    DOI 10.1007/s00415-016-8033-3, PubMed 26860091
  63. Rydning SL, Wedding IM, Koht J, Chawla M, Øye AM, Sheng Y, Vigeland MD, Selmer KK, Tallaksen CM (2016)
    A founder mutation p.H701P identified as a major cause of SPG7 in Norway
    Eur J Neurol, 23 (4), 763-71
    DOI 10.1111/ene.12937, PubMed 26756429
  64. Samarakoon PS, Sorte HS, Stray-Pedersen A, Rødningen OK, Rognes T, Lyle R (2016)
    cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data
    BMC Genomics, 17, 51
    DOI 10.1186/s12864-016-2374-2, PubMed 26764020
  65. Sarropoulou E, Tsalafouta A, Sundaram AY, Gilfillan GD, Kotoulas G, Papandroulakis N, Pavlidis M (2016)
    Transcriptomic changes in relation to early-life events in the gilthead sea bream (Sparus aurata)
    BMC Genomics, 17, 506
    DOI 10.1186/s12864-016-2874-0, PubMed 27461489
  66. Skauli N, Wallace S, Chiang SC, Barøy T, Holmgren A, Stray-Pedersen A, Bryceson YT, Strømme P, Frengen E, Misceo D (2016)
    Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype
    Genes (Basel), 7 (12)
    DOI 10.3390/genes7120108, PubMed 27916860
  67. Solvang HK, Frigessi A, Kaveh F, Riis ML, Lüders T, Bukholm IR, Kristensen VN, Andreassen BK (2016)
    Gene expression analysis supports tumor threshold over 2.0 cm for T-category breast cancer
    EURASIP J Bioinform Syst Biol, 2016 (1), 6
    DOI 10.1186/s13637-015-0034-5, PubMed 26900390
  68. Sorte HS, Osnes LT, Fevang B, Aukrust P, Erichsen HC, Backe PH, Abrahamsen TG, Kittang OB, Øverland T, Jhangiani SN, Muzny DM, Vigeland MD, Samarakoon P, Gambin T, Akdemir ZH, Gibbs RA, Rødningen OK, Lyle R, Lupski JR, Stray-Pedersen A (2016)
    A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction
    Mol Genet Genomic Med, 4 (6), 604-616
    DOI 10.1002/mgg3.237, PubMed 27896283
  69. Stamberger H, Nikanorova M, Willemsen MH, Accorsi P, Angriman M, Baier H, Benkel-Herrenbrueck I, Benoit V, Budetta M, Caliebe A, Cantalupo G, Capovilla G, Casara G, Courage C, Deprez M, Destrée A, Dilena R, Erasmus CE, Fannemel M, Fjær R, Giordano L, Helbig KL, Heyne HO, Klepper J, Kluger GJ et al. (2016)
    STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy
    Neurology, 86 (10), 954-62
    DOI 10.1212/WNL.0000000000002457, PubMed 26865513
  70. Stavik B, Espada S, Cui XY, Iversen N, Holm S, Mowinkel MC, Halvorsen B, Skretting G, Sandset PM (2016)
    EPAS1/HIF-2 alpha-mediated downregulation of tissue factor pathway inhibitor leads to a pro-thrombotic potential in endothelial cells
    Biochim Biophys Acta, 1862 (4), 670-678
    DOI 10.1016/j.bbadis.2016.01.017, PubMed 26826018
  71. Sundaram AY, Hughes T, Biondi S, Bolduc N, Bowman SK, Camilli A, Chew YC, Couture C, Farmer A, Jerome JP, Lazinski DW, McUsic A, Peng X, Shazand K, Xu F, Lyle R, Gilfillan GD (2016)
    A comparative study of ChIP-seq sequencing library preparation methods
    BMC Genomics, 17 (1), 816
    DOI 10.1186/s12864-016-3135-y, PubMed 27769162
  72. Sundvold H, Sundvold-Gjerstad V, Malerød-Fjeld H, Haglund K, Stenmark H, Malerød L (2016)
    Arv1 promotes cell division by recruiting IQGAP1 and myosin to the cleavage furrow
    Cell Cycle, 15 (5), 628-43
    DOI 10.1080/15384101.2016.1146834, PubMed 27104745
  73. Svendsen AJ, Gervin K, Lyle R, Christiansen L, Kyvik K, Junker P, Nielsen C, Houen G, Tan Q (2016)
    Differentially Methylated DNA Regions in Monozygotic Twin Pairs Discordant for Rheumatoid Arthritis: An Epigenome-Wide Study
    Front Immunol, 7, 510
    DOI 10.3389/fimmu.2016.00510, PubMed 27909437
  74. Syvertsen M, Hellum MK, Hansen G, Edland A, Nakken KO, Selmer KK, Koht J (2016)
    Prevalence of juvenile myoclonic epilepsy in people <30 years of age-A population-based study in Norway
    Epilepsia, 58 (1), 105-112
    DOI 10.1111/epi.13613, PubMed 27861775
  75. Szabo A, Kovacs A, Riba J, Djurovic S, Rajnavolgyi E, Frecska E (2016)
    The Endogenous Hallucinogen and Trace Amine N,N-Dimethyltryptamine (DMT) Displays Potent Protective Effects against Hypoxia via Sigma-1 Receptor Activation in Human Primary iPSC-Derived Cortical Neurons and Microglia-Like Immune Cells
    Front Neurosci, 10, 423
    DOI 10.3389/fnins.2016.00423, PubMed 27683542
  76. Tekpli X, Urbanucci A, Hashim A, Vågbø CB, Lyle R, Kringen MK, Staff AC, Dybedal I, Mills IG, Klungland A, Staerk J (2016)
    Changes of 5-hydroxymethylcytosine distribution during myeloid and lymphoid differentiation of CD34+ cells
    Epigenetics Chromatin, 9, 21
    DOI 10.1186/s13072-016-0070-8, PubMed 27252783
  77. Tesli M, Wirgenes KV, Hughes T, Bettella F, Athanasiu L, Hoseth ES, Nerhus M, Lagerberg TV, Steen NE, Agartz I, Melle I, Dieset I, Djurovic S, Andreassen OA (2016)
    VRK2 gene expression in schizophrenia, bipolar disorder and healthy controls
    Br J Psychiatry, 209 (2), 114-20
    DOI 10.1192/bjp.bp.115.161950, PubMed 26941264
  78. Tinholt M, Sandset PM, Iversen N (2016)
    Polymorphisms of the coagulation system and risk of cancer
    Thromb Res, 140 Suppl 1, S49-54
    DOI 10.1016/S0049-3848(16)30098-6, PubMed 27067978
  79. Tinholt M, Sandset PM, Mowinckel MC, Garred Ø, Sahlberg KK, Kristensen VN, Børresen-Dale AL, Jacobsen AF, Skretting G, Iversen N (2016)
    Determinants of acquired activated protein C resistance and D-dimer in breast cancer
    Thromb Res, 145, 78-83
    DOI 10.1016/j.thromres.2016.08.003, PubMed 27505249
  80. Trucchi E, Mazzarella AB, Gilfillan GD, Lorenzo MT, Schönswetter P, Paun O (2016)
    BsRADseq: screening DNA methylation in natural populations of non-model species
    Mol Ecol, 25 (8), 1697-713
    DOI 10.1111/mec.13550, PubMed 26818626
  81. Uhlirova H, Kılıç K, Tian P, Sakadžić S, Gagnon L, Thunemann M, Desjardins M, Saisan PA, Nizar K, Yaseen MA, Hagler DJ, Vandenberghe M, Djurovic S, Andreassen OA, Silva GA, Masliah E, Kleinfeld D, Vinogradov S, Buxton RB, Einevoll GT, Boas DA, Dale AM, Devor A (2016)
    The roadmap for estimation of cell-type-specific neuronal activity from non-invasive measurements
    Philos Trans R Soc Lond B Biol Sci, 371 (1705)
    DOI 10.1098/rstb.2015.0356, PubMed 27574309
  82. Uhlirova H, Kılıç K, Tian P, Thunemann M, Desjardins M, Saisan PA, Sakadžić S, Ness TV, Mateo C, Cheng Q, Weldy KL, Razoux F, Vandenberghe M, Cremonesi JA, Ferri CG, Nizar K, Sridhar VB, Steed TC, Abashin M, Fainman Y, Masliah E, Djurovic S, Andreassen OA, Silva GA, Boas DA et al. (2016)
    Cell type specificity of neurovascular coupling in cerebral cortex
    Elife, 5
    DOI 10.7554/eLife.14315, PubMed 27244241
  83. Vigeland MD, Gjøtterud KS, Selmer KK (2016)
    FILTUS: a desktop GUI for fast and efficient detection of disease-causing variants, including a novel autozygosity detector
    Bioinformatics, 32 (10), 1592-4
    DOI 10.1093/bioinformatics/btw046, PubMed 26819469
  84. Wang Y, Bos SD, Harbo HF, Thompson WK, Schork AJ, Bettella F, Witoelar A, Lie BA, Li W, McEvoy LK, Djurovic S, Desikan RS, Dale AM, Andreassen OA (2016)
    Genetic overlap between multiple sclerosis and several cardiovascular disease risk factors
    Mult Scler, 22 (14), 1783-1793
    DOI 10.1177/1352458516635873, PubMed 26920376
  85. Wang Y, Thompson WK, Schork AJ, Holland D, Chen CH, Bettella F, Desikan RS, Li W, Witoelar A, Zuber V, Devor A, Bipolar Disorder and Schizophrenia Working Group of the Psychiatric Genomics Consortium, Enhancing Neuro Imaging Genetics through Meta Analysis Consortium, Nöthen MM, Rietschel M, Chen Q, Werge T, Cichon S, Weinberger DR, Djurovic S, O'Donovan M, Visscher PM, Andreassen OA, Dale AM (2016)
    Leveraging Genomic Annotations and Pleiotropic Enrichment for Improved Replication Rates in Schizophrenia GWAS
    PLoS Genet, 12 (1), e1005803
    DOI 10.1371/journal.pgen.1005803, PubMed 26808560
  86. Wang Z, Iida A, Miyake N, Nishiguchi KM, Fujita K, Nakazawa T, Alswaid A, Albalwi MA, Kim OH, Cho TJ, Lim GY, Isidor B, David A, Rustad CF, Merckoll E, Westvik J, Stattin EL, Grigelioniene G, Kou I, Nakajima M, Ohashi H, Smithson S, Matsumoto N, Nishimura G, Ikegawa S (2016)
    Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations
    PLoS One, 11 (3), e0150555
    DOI 10.1371/journal.pone.0150555, PubMed 26974433
  87. Wierød L, Cameron J, Strøm TB, Leren TP (2016)
    Studies of the autoinhibitory segment comprising residues 31-60 of the prodomain of PCSK9: Possible implications for the mechanism underlying gain-of-function mutations
    Mol Genet Metab Rep, 9, 86-93
    DOI 10.1016/j.ymgmr.2016.11.003, PubMed 27896130
  88. Wikenius E, Moe V, Kjellevold M, Smith L, Lyle R, Waagbø R, Page CM, Myhre AM (2016)
    The Association between Hair Cortisol and Self-Reported Symptoms of Depression in Pregnant Women
    PLoS One, 11 (9), e0161804
    DOI 10.1371/journal.pone.0161804, PubMed 27584584
  89. Yu H, Zhang VW, Stray-Pedersen A, Hanson IC, Forbes LR, de la Morena MT, Chinn IK, Gorman E, Mendelsohn NJ, Pozos T, Wiszniewski W, Nicholas SK, Yates AB, Moore LE, Berge KE, Sorte H, Bayer DK, ALZahrani D, Geha RS, Feng Y, Wang G, Orange JS, Lupski JR, Wang J, Wong LJ (2016)
    Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing
    J Allergy Clin Immunol, 138 (4), 1142-1151.e2
    DOI 10.1016/j.jaci.2016.05.035, PubMed 27484032
  90. Zook JM, Catoe D, McDaniel J, Vang L, Spies N, Sidow A, Weng Z, Liu Y, Mason CE, Alexander N, Henaff E, McIntyre AB, Chandramohan D, Chen F, Jaeger E, Moshrefi A, Pham K, Stedman W, Liang T, Saghbini M, Dzakula Z, Hastie A, Cao H, Deikus G, Schadt E et al. (2016)
    Extensive sequencing of seven human genomes to characterize benchmark reference materials
    Sci Data, 3, 160025
    DOI 10.1038/sdata.2016.25, PubMed 27271295

Publications 2015

  1. Abrahamsen BJ, Kulseth MA, Paus B (2015)
    A 19-year-old man with relapsing bilateral pneumothorax, hemoptysis, and intrapulmonary cavitary lesions diagnosed with vascular Ehlers-Danlos syndrome and a novel missense mutation in COL3A1
    Chest, 147 (5), e166-e170
    DOI 10.1378/chest.13-3002, PubMed 25940258
  2. Andreassen OA, Desikan RS, Wang Y, Thompson WK, Schork AJ, Zuber V, Doncheva NT, Ellinghaus E, Albrecht M, Mattingsdal M, Franke A, Lie BA, Mills IG, Aukrust P, McEvoy LK, Djurovic S, Karlsen TH, Dale AM (2015)
    Correction: Abundant Genetic Overlap between Blood Lipids and Immune-Mediated Diseases Indicates Shared Molecular Genetic Mechanisms
    PLoS One, 10 (5), e0128048
    DOI 10.1371/journal.pone.0128048, PubMed 25978331
  3. Andreassen OA, Thompson WK, Schork AJ, Ripke S, Mattingsdal M, Kelsoe JR, Kendler KS, O'Donovan MC, Rujescu D, Werge T, Sklar P, Psychiatric Genomics Consortium (PGC), Bipolar Disorder and Schizophrenia Working Groups, Roddey JC, Chen CH, McEvoy L, Desikan RS, Djurovic S, Dale AM (2015)
    Correction: Improved Detection of Common Variants Associated with Schizophrenia and Bipolar Disorder Using Pleiotropy-Informed Conditional False Discovery Rate
    PLoS Genet, 11 (11), e1005544
    DOI 10.1371/journal.pgen.1005544, PubMed 26540268
  4. Athanasiu L, Smorr LL, Tesli M, Røssberg JI, Sønderby IE, Spigset O, Djurovic S, Andreassen OA (2015)
    Genome-wide association study identifies common variants associated with pharmacokinetics of psychotropic drugs
    J Psychopharmacol, 29 (8), 884-91
    DOI 10.1177/0269881115584469, PubMed 25944848
  5. Barber JC, Rosenfeld JA, Graham JM, Kramer N, Lachlan KL, Bateman MS, Collinson MN, Stadheim BF, Turner CL, Gauthier JN, Reimschisel TE, Qureshi AM, Dabir TA, Humphreys MW, Marble M, Huang T, Beal SJ, Massiah J, Taylor EJ, Wynn SL (2015)
    Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance
    Am J Med Genet A, 167A (9), 2052-64
    DOI 10.1002/ajmg.a.37120, PubMed 26097203
  6. Barøy T, Koster J, Strømme P, Ebberink MS, Misceo D, Ferdinandusse S, Holmgren A, Hughes T, Merckoll E, Westvik J, Woldseth B, Walter J, Wood N, Tvedt B, Stadskleiv K, Wanders RJ, Waterham HR, Frengen E (2015)
    A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform
    Hum Mol Genet, 24 (20), 5845-54
    DOI 10.1093/hmg/ddv305, PubMed 26220973
  7. Borsting J, Culen AL, Eike MC (2015)
    DESIGN OF A REFERENCE HANDLING SYSTEM FOR CLINICAL DNA SEQUENCING ANALYSIS
    PROCEEDINGS OF THE INTERNATIONAL CONFERENCES ON E-HEALTH 2015 E-COMMERCE AND DIGITAL MARKETING 2015 AND INFORMATION SYSTEMS POST-IMPLEMENTATION AND CHANGE MANAGEMENT 2015, 79-87
  8. Broch K, Andreassen AK, Hopp E, Leren TP, Scott H, Müller F, Aakhus S, Gullestad L (2015)
    Results of comprehensive diagnostic work-up in 'idiopathic' dilated cardiomyopathy
    Open Heart, 2 (1), e000271
    DOI 10.1136/openhrt-2015-000271, PubMed 26468400
  9. Carlsen EØ, Frengen E, Fannemel M, Misceo D (2015)
    Haploinsufficiency of ANO6, NELL2 and DBX2 in a boy with intellectual disability and growth delay
    Am J Med Genet A, 167A (8), 1890-6
    DOI 10.1002/ajmg.a.37079, PubMed 25846056
  10. Chen CH, Peng Q, Schork AJ, Lo MT, Fan CC, Wang Y, Desikan RS, Bettella F, Hagler DJ, Pediatric Imaging, Neurocognition and Genetics Study, Alzheimer’s Disease Neuroimaging Initiative, Westlye LT, Kremen WS, Jernigan TL, Le Hellard S, Steen VM, Espeseth T, Huentelman M, Håberg AK, Agartz I, Djurovic S, Andreassen OA, Schork N, Dale AM, Pediatric Imaging Neurocognition and Genetics Study et al. (2015)
    Large-scale genomics unveil polygenic architecture of human cortical surface area
    Nat Commun, 6, 7549
    DOI 10.1038/ncomms8549, PubMed 26189703
  11. Chiaroni-Clarke RC, Li YR, Munro JE, Chavez RA, Scurrah KJ, Pezic A, Akikusa JD, Allen RC, Piper SE, Becker ML, Thompson SD, Lie BA, Flato B, Forre O, Punaro M, Wise C, Saffery R, Finkel TH, Hakonarson H, Ponsonby AL, Ellis JA (2015)
    The association of PTPN22 rs2476601 with juvenile idiopathic arthritis is specific to females
    Genes Immun, 16 (7), 495-8
    DOI 10.1038/gene.2015.32, PubMed 26291515
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    Friedreich ataxia in Norway - an epidemiological, molecular and clinical study
    Orphanet J Rare Dis, 10, 108
    DOI 10.1186/s13023-015-0328-4, PubMed 26338206
  74. Willemsen G, Ward KJ, Bell CG, Christensen K, Bowden J, Dalgård C, Harris JR, Kaprio J, Lyle R, Magnusson PK, Mather KA, Ordoňana JR, Perez-Riquelme F, Pedersen NL, Pietiläinen KH, Sachdev PS, Boomsma DI, Spector T (2015)
    The Concordance and Heritability of Type 2 Diabetes in 34,166 Twin Pairs From International Twin Registers: The Discordant Twin (DISCOTWIN) Consortium
    Twin Res Hum Genet, 18 (6), 762-71
    DOI 10.1017/thg.2015.83, PubMed 26678054
  75. Wolff AS, Mitchell AL, Cordell HJ, Short A, Skinningsrud B, Ollier W, Badenhoop K, Meyer G, Falorni A, Kampe O, Undlien D, Pearce SH, Husebye ES (2015)
    CTLA-4 as a genetic determinant in autoimmune Addison's disease
    Genes Immun, 16 (6), 430-6
    DOI 10.1038/gene.2015.27, PubMed 26204230
  76. Zayats T, Athanasiu L, Sonderby I, Djurovic S, Westlye LT, Tamnes CK, Fladby T, Aase H, Zeiner P, Reichborn-Kjennerud T, Knappskog PM, Knudsen GP, Andreassen OA, Johansson S, Haavik J (2015)
    Genome-wide analysis of attention deficit hyperactivity disorder in Norway
    PLoS One, 10 (4), e0122501
    DOI 10.1371/journal.pone.0122501, PubMed 25875332

Publications 2014

  1. Aas M, Haukvik UK, Djurovic S, Tesli M, Athanasiu L, Bjella T, Hansson L, Cattaneo A, Agartz I, Andreassen OA, Melle I (2014)
    Interplay between childhood trauma and BDNF val66met variants on blood BDNF mRNA levels and on hippocampus subfields volumes in schizophrenia spectrum and bipolar disorders
    J Psychiatr Res, 59, 14-21
    DOI 10.1016/j.jpsychires.2014.08.011, PubMed 25246365
  2. Ali HO, Stavik B, Dørum E, Iversen N, Sandset PM, Skretting G (2014)
    Oestrogen induced downregulation of TFPI expression is mediated by ERα
    Thromb Res, 134 (1), 138-43
    DOI 10.1016/j.thromres.2014.04.004, PubMed 24785473
  3. Amundsen SS, Viken MK, Sollid LM, Lie BA (2014)
    Coeliac disease-associated polymorphisms influence thymic gene expression
    Genes Immun, 15 (6), 355-60
    DOI 10.1038/gene.2014.26, PubMed 24871462
  4. Andreassen OA, Harbo HF, Wang Y, Thompson WK, Schork AJ, Mattingsdal M, Zuber V, Bettella F, Ripke S, Kelsoe JR, Kendler KS, O'Donovan MC, Sklar P, Psychiatric Genomics Consortium (PGC) Bipolar Disorder and Schizophrenia Work Groups, International Multiple Sclerosis Genetics Consortium (IMSGC), McEvoy LK, Desikan RS, Lie BA, Djurovic S, Dale AM (2014)
    Genetic pleiotropy between multiple sclerosis and schizophrenia but not bipolar disorder: differential involvement of immune-related gene loci
    Mol Psychiatry, 20 (2), 207-14
    DOI 10.1038/mp.2013.195, PubMed 24468824
  5. Andreassen OA, Zuber V, Thompson WK, Schork AJ, Bettella F, PRACTICAL Consortium, CRUK GWAS, Djurovic S, Desikan RS, Mills IG, Dale AM (2014)
    Shared common variants in prostate cancer and blood lipids
    Int J Epidemiol, 43 (4), 1205-14
    DOI 10.1093/ije/dyu090, PubMed 24786909
  6. Apelland T, Gude E, Strøm EH, Gullestad L, Eiklid KL, Månsson JE, Reinholt FP, Houge G, Dahl CP, Almaas VM, Heiberg A (2014)
    Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease
    Heart, 100 (22), 1793-8
    DOI 10.1136/heartjnl-2014-305616, PubMed 25031264
  7. Askautrud HA, Gjernes E, Gunnes G, Sletten M, Ross DT, Børresen-Dale AL, Iversen N, Tranulis MA, Frengen E (2014)
    Global gene expression analysis reveals a link between NDRG1 and vesicle transport
    PLoS One, 9 (1), e87268
    DOI 10.1371/journal.pone.0087268, PubMed 24498060
  8. Avidan N, Le Panse R, Harbo HF, Bernasconi P, Poulas K, Ginzburg E, Cavalcante P, Colleoni L, Baggi F, Antozzi C, Truffault F, Horn-Saban S, Pöschel S, Zagoriti Z, Maniaol A, Lie BA, Bernard I, Saoudi A, Illes Z, Casasnovas Pons C, Melms A, Tzartos S, Willcox N, Kostera-Pruszczyk A, Tallaksen C et al. (2014)
    VAV1 and BAFF, via NFκB pathway, are genetic risk factors for myasthenia gravis
    Ann Clin Transl Neurol, 1 (5), 329-39
    DOI 10.1002/acn3.51, PubMed 25356403
  9. Bancroft EK, Page EC, Castro E, Lilja H, Vickers A, Sjoberg D, Assel M, Foster CS, Mitchell G, Drew K, Mæhle L, Axcrona K, Evans DG, Bulman B, Eccles D, McBride D, van Asperen C, Vasen H, Kiemeney LA, Ringelberg J, Cybulski C, Wokolorczyk D, Selkirk C, Hulick PJ, Bojesen A et al. (2014)
    Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study
    Eur Urol, 66 (3), 489-99
    DOI 10.1016/j.eururo.2014.01.003, PubMed 24484606
  10. Bartholdi D, Stray-Pedersen A, Azzarello-Burri S, Kibaek M, Kirchhoff M, Oneda B, Rødningen O, Schmitt-Mechelke T, Rauch A, Kjaergaard S (2014)
    A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes
    Am J Med Genet A, 164A (5), 1277-83
    DOI 10.1002/ajmg.a.36439, PubMed 24664804
  11. Bayer DK, Martinez CA, Sorte HS, Forbes LR, Demmler-Harrison GJ, Hanson IC, Pearson NM, Noroski LM, Zaki SR, Bellini WJ, Leduc MS, Yang Y, Eng CM, Patel A, Rodningen OK, Muzny DM, Gibbs RA, Campbell IM, Shaw CA, Baker MW, Zhang V, Lupski JR, Orange JS, Seeborg FO, Stray-Pedersen A (2014)
    Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray
    Clin Exp Immunol, 178 (3), 459-69
    DOI 10.1111/cei.12421, PubMed 25046553
  12. Belengeanu V, Gamage TH, Farcas S, Stoian M, Andreescu N, Belengeanu A, Frengen E, Misceo D (2014)
    A de novo 2.3 Mb deletion in 2q24.2q24.3 in a 20-month-old developmentally delayed girl
    Gene, 539 (1), 168-72
    DOI 10.1016/j.gene.2014.01.060, PubMed 24508274
  13. Berge KE, Retterstøl K, Romeo S, Pirazzi C, Leren TP (2014)
    Type 1 hyperlipoproteinemia due to a novel deletion of exons 3 and 4 in the GPIHBP1 gene
    Atherosclerosis, 234 (1), 30-3
    DOI 10.1016/j.atherosclerosis.2014.02.005, PubMed 24589565
  14. Brønstad I, Skinningsrud B, Bratland E, Løvås K, Undlien D, Sverre Husebye E, Wolff AS (2014)
    CYP21A2 polymorphisms in patients with autoimmune Addison's disease, and linkage disequilibrium to HLA risk alleles
    Eur J Endocrinol, 171 (6), 743-50
    DOI 10.1530/EJE-14-0432, PubMed 25249698
  15. Cameron J (2014)
    New dentist spotlight: Dr. Jamie Cameron
    J Okla Dent Assoc, 105 (1), 27
    PubMed 24624747
  16. Christiansen M, Hedley PL, Theilade J, Stoevring B, Leren TP, Eschen O, Sørensen KM, Tybjærg-Hansen A, Ousager LB, Pedersen LN, Frikke-Schmidt R, Aidt FH, Hansen MG, Hansen J, Bloch Thomsen PE, Toft E, Henriksen FL, Bundgaard H, Jensen HK, Kanters JK (2014)
    Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2
    BMC Med Genet, 15, 31
    DOI 10.1186/1471-2350-15-31, PubMed 24606995
  17. Dieset I, Haukvik UK, Melle I, Røssberg JI, Ueland T, Hope S, Dale AM, Djurovic S, Aukrust P, Agartz I, Andreassen OA (2014)
    Association between altered brain morphology and elevated peripheral endothelial markers--implications for psychotic disorders
    Schizophr Res, 161 (2-3), 222-8
    DOI 10.1016/j.schres.2014.11.006, PubMed 25433965
  18. Drolsum L, Rand-Hendriksen S, Paus B, Geiran OR, Semb SO (2014)
    Ocular findings in 87 adults with Ghent-1 verified Marfan syndrome
    Acta Ophthalmol, 93 (1), 46-53
    DOI 10.1111/aos.12448, PubMed 24853997
  19. Egeland T, Dørum G, Vigeland MD, Sheehan NA (2014)
    Mixtures with relatives: a pedigree perspective
    Forensic Sci Int Genet, 10, 49-54
    DOI 10.1016/j.fsigen.2014.01.007, PubMed 24572837
  20. Fagerlund A, Myrset AH, Kulseth MA (2014)
    Construction of a filamentous phage display peptide library
    Methods Mol Biol, 1088, 19-33
    DOI 10.1007/978-1-62703-673-3_2, PubMed 24146394
  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
    DOI 10.1016/j.ejmg.2014.05.008,