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

74 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

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

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

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

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

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, 41 (10), 1738-1744
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, 26 (8), 3876-3883
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, 31 (6), 572-578
DOI 10.1111/cyt.12895, PubMed 32741023

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

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

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

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

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

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

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

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

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

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

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

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

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., 47 (4), 1090-1113
DOI 10.1111/sjos.12451

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

Herum KM, Romaine A, Wang A, Melleby AO, Strand ME, Pacheco J, Braathen B, Dunér P, Tønnessen T, Lunde IG, Sjaastad I, Brakebusch C, McCulloch AD, Gomez MF, Carlson CR, Christensen G (2020)
Syndecan-4 Protects the Heart From the Profibrotic Effects of Thrombin-Cleaved Osteopontin
J Am Heart Assoc, 9 (3), e013518
DOI 10.1161/JAHA.119.013518, PubMed 32000579

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

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

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

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

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

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

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

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

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

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

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

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

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

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, 89 (3), 227-235
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

Sundvold H (2020)
Triciribine Engages ZFP36L1 and HuR to Stabilize LDLR mRNA
Molecules, 25 (19)
DOI 10.3390/molecules25194505, PubMed 33019656

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

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
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