Biomedical research at Oslo University Hospital
Oslo University Hospital is a merger of three former university hospitals in Oslo. Biomedical research is one of the hospital's core activities. Research at the hospital is closely interlinked with research undertaken at the University of Oslo. More than 50% of all biomedical research in Norway is published by researchers affiliated with the hospital. Research undertaken cover both basic research, translational research, and clinical research.
Oslo University Hospital has a central role in developing and supporting biomedical research within the South-Eastern Regional Health Authority. The hospital also pursues international research collaborations.
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Summary of publications:
Publications (original articles or review articles) published in 2020 from OUS - Department of Medical Genetics
74 publications found
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
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
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
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
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
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
Mitochondrial genome-wide association study of migraine - the HUNT Study
Cephalalgia, 40 (6), 625-634
DOI 10.1177/0333102420906835, PubMed 32056457
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
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
Genet Med, 22 (7), 1215-1226
DOI 10.1016/S0002-9440(10)64578-6, PubMed 32376980
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
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
Genetic control of variability in subcortical and intracranial volumes
Mol Psychiatry
DOI 10.1038/s41380-020-0664-1, PubMed 32047264
The phosphatase PTPN1/PTP1B is a candidate marker of better chemotherapy response in metastatic high-grade serous carcinoma
Cytopathology
DOI 10.1111/cyt.12921, PubMed 33025675
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
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
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
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
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
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
PET molecular imaging of phosphodiesterase 10A: An early biomarker of Huntington's disease progression
Mov. Disord., 35 (4), 606-615
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
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
The genetic architecture of the human cerebral cortex
Science, 367 (6484)
DOI 10.1126/science.aay6690, PubMed 32193296
Selective Stimulation of Duplicated Atlantic Salmon MHC Pathway Genes by Interferon-Gamma
Front Immunol, 11, 571650
DOI 10.3389/fimmu.2020.571650, PubMed 33123146
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
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
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
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
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
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
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
Inherited retinal disease in Norway - a characterization of current clinical and genetic knowledge
Acta Ophthalmol., 98 (3), 286-295
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
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
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
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
BiasAway: command-line and web server to generate nucleotide composition-matched DNA background sequences
Bioinformatics (in press)
DOI 10.1093/bioinformatics/btaa928, PubMed 33135764
Psychiatric assessment in Phelan-McDermid Syndrome (22q13 deletion syndrome)
J. Intellect. Dev. Dis., 45 (1), 54-58
Prevalence and incidence rates of atrial fibrillation in Norway 2004-2014
Heart, 107 (3), 201-207
DOI 10.1136/heartjnl-2020-316624, PubMed 32820014
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
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
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
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
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
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
Head and neck paragangliomas in Norway, importance of genetics, updated diagnostic workup and treatment
Acta Otolaryngol
DOI 10.1080/00016489.2020.1845397, PubMed 33320715
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
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
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
The Relationship Between Polygenic Risk Scores and Cognition in Schizophrenia
Schizophr Bull, 46 (2), 336-344
DOI 10.1093/schbul/sbz061, PubMed 31206164
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
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
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
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
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
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
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
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
Triciribine Engages ZFP36L1 and HuR to Stabilize LDLR mRNA
Molecules, 25 (19)
DOI 10.3390/molecules25194505, PubMed 33019656
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
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
Maternal Microchimerism in Cord Blood and Risk of Celiac Disease in Childhood
J Pediatr Gastroenterol Nutr, 71 (3), 321-327
DOI 10.1097/MPG.0000000000002811, PubMed 32833392
Psychedelics as a novel approach to treating autoimmune conditions
Immunol Lett, 228, 45-54
DOI 10.1016/j.imlet.2020.10.001, PubMed 33035575
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
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
Coagulation factor V is a marker of tumor-infiltrating immune cells in breast cancer
OncoImmunology, 9 (1), 1824644
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis
Eur J Hum Genet
DOI 10.1038/s41431-020-00788-4, PubMed 33288889
Epidemiology of craniosynostosis in Norway
J Neurosurg Pediatr, 26 (1), 68-75
DOI 10.3171/2020.1.PEDS2051, PubMed 32244202
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
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
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
A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction
Hum Mutat
DOI 10.1002/humu.24137, PubMed 33169484
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
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