Biomedical research at Oslo University Hospital

Publications (original articles or review articles) published in 2020 from OUS - Department of Medical Genetics

52 publications found

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

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

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

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

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

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

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

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
DOI 10.1002/humu.24075, PubMed 32643838

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

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
DOI 10.1038/s41380-020-0664-1, PubMed 32047264

Davidson B, Bock AJ, Holth A, Nymoen DA (2020)
Expression of palladin is associated with disease progression in metastatic high-grade serous carcinoma
Cytopathology (in press)
DOI 10.1111/cyt.12895, PubMed 32741023

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

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

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

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

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

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

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

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.

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

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

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

Holtan JP, Selmer KK, Heimdal KR, Bragadottir R (2020)
Inherited retinal disease in Norway - a characterization of current clinical and genetic knowledge
Acta Ophthalmol., 98 (3), 286-295

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

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

Jansen IE, Savage JE, Watanabe K, Bryois J, Williams DM, Steinberg S, Sealock J, Karlsson IK, Hägg S, Athanasiu L, Voyle N, Proitsi P, Witoelar A, Stringer S, Aarsland D, Almdahl IS, Andersen F, Bergh S, Bettella F, Bjornsson S, Brækhus A, Bråthen G, de Leeuw C, Desikan RS, Djurovic S et al. (2020)
Author Correction: Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk
Nat Genet, 52 (3), 354
DOI 10.1038/s41588-019-0573-x, PubMed 32029921

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

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

Kildahl AN, Berg LK, Nilssen ALE, Bjorgo K, Rodningen O, Helverschou SB (2020)
Psychiatric assessment in Phelan-McDermid Syndrome (22q13 deletion syndrome)
J. Intellect. Dev. Dis., 45 (1), 54-58

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

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

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

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

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

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

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 (in press)
DOI 10.1093/bioinformatics/btaa568, PubMed 32539089

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

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 (in press)
DOI 10.1016/j.biopsych.2020.01.026, PubMed 32201043

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

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

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

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

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

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

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
DOI 10.1007/s10549-020-05763-7, PubMed 32710281

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

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 (in press)
DOI 10.1002/jgc4.1245, PubMed 32162754

Tønne E, Due-Tønnessen BJ, Wiig U, Stadheim BF, Meling TR, Helseth E, Heimdal KR (2020)
Epidemiology of craniosynostosis in Norway
J Neurosurg Pediatr, 1-8 (in press)
DOI 10.3171/2020.1.PEDS2051, PubMed 32244202

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

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

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

Wu L, Yang Y, Guo X, Shu XO, Cai Q, Shu X, Li B, Tao R, Wu C, Nikas JB, Sun Y, Zhu J, Roobol MJ, Giles GG, Brenner H, John EM, Clements J, Grindedal EM, Park JY, Stanford JL, Kote-Jarai Z, Haiman CA, Eeles RA, Zheng W, Long J et al. (2020)
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