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 2019 from OUS - Department of Medical Genetics
96 publications found
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
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
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
Brain Heterogeneity in Schizophrenia and Its Association With Polygenic Risk
JAMA Psychiatry, 76 (7), 739-748
DOI 10.1001/jamapsychiatry.2019.0257, PubMed 30969333
Coexistence of Congenital Adrenal Hyperplasia and Autoimmune Addison's Disease
Front Endocrinol (Lausanne), 10, 648
DOI 10.3389/fendo.2019.00648, PubMed 31611844
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Methylation Warfare: Interaction of Pneumococcal Bacteriophages with Their Host
J Bacteriol, 201 (19)
DOI 10.1128/JB.00370-19, PubMed 31285240
Transcriptomes of antigen presenting cells in human thymus
PLoS One, 14 (7), e0218858
DOI 10.1371/journal.pone.0218858, PubMed 31261375
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
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
Identification of common genetic risk variants for autism spectrum disorder
Nat Genet, 51 (3), 431-444
DOI 10.1038/s41588-019-0344-8, PubMed 30804558
Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder
Transl Psychiatry, 9 (1), 258
DOI 10.1038/s41398-019-0599-y, PubMed 31624239
Systematic assessment of commercially available low-input miRNA library preparation kits
RNA Biol, 17 (1), 75-86
DOI 10.1080/15476286.2019.1667741, PubMed 31559901
Postoperative wound dehiscence after laparotomy: a useful healthcare quality indicator? A cohort study based on Norwegian hospital administrative data
BMJ Open, 9 (4), e026422
DOI 10.1136/bmjopen-2018-026422, PubMed 30948604
Medical Issues in Adults with Rett Syndrome - A National Survey
Dev Neurorehabil, 23 (2), 106-112
DOI 10.1080/17518423.2019.1646341, PubMed 31342829
Inherited retinal disease in Norway - a characterization of current clinical and genetic knowledge
Acta Ophthalmol, 98 (3), 286-295
DOI 10.1111/aos.14218, PubMed 31429209
"Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay
Mol Genet Genomic Med, 7 (9), e00615
DOI 10.1002/mgg3.615, PubMed 31319022
Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk
Nat Genet, 51 (3), 404-413
DOI 10.1038/s41588-018-0311-9, PubMed 30617256
Shared heritability and functional enrichment across six solid cancers
Nat Commun, 10 (1), 431
DOI 10.1038/s41467-018-08054-4, PubMed 30683880
A 22q13.33 duplication harbouring the SHANK3 gene: does it cause neuropsychiatric disorders?
BMJ Case Rep, 12 (11)
DOI 10.1136/bcr-2018-228258, PubMed 31678916
Atrial Fibrillation Genetics Update: Toward Clinical Implementation
Front Cardiovasc Med, 6, 127
DOI 10.3389/fcvm.2019.00127, PubMed 31552271
Single-Cell RNA Sequencing of In Vitro Expanded Chondrocytes: MSC-Like Cells With No Evidence of Distinct Subsets
Cartilage, 1947603519847746 (in press)
DOI 10.1177/1947603519847746, PubMed 31072202
Common brain disorders are associated with heritable patterns of apparent aging of the brain
Nat Neurosci, 22 (10), 1617-1623
DOI 10.1038/s41593-019-0471-7, PubMed 31551603
DNA methylation patterns vary in boar sperm cells with different levels of DNA fragmentation
BMC Genomics, 20 (1), 897
DOI 10.1186/s12864-019-6307-8, PubMed 31775629
HLA-DRB3*01:01 exhibits a dose-dependent impact on HPA-1a antibody levels in HPA-1a-immunized women
Blood Adv, 3 (7), 945-951
DOI 10.1182/bloodadvances.2019032227, PubMed 30923048
Oophorectomy and risk of contralateral breast cancer among BRCA1 and BRCA2 mutation carriers
Breast Cancer Res Treat, 175 (2), 443-449
DOI 10.1007/s10549-019-05162-7, PubMed 30756284
Lower risk of smoking-related cancer in individuals with familial hypercholesterolemia compared with controls: a prospective matched cohort study
Sci Rep, 9 (1), 19273
DOI 10.1038/s41598-019-55682-x, PubMed 31848411
Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways
Am J Hum Genet, 105 (2), 334-350
DOI 10.1016/j.ajhg.2019.06.012, PubMed 31374203
Association analyses identify 31 new risk loci for colorectal cancer susceptibility
Nat Commun, 10 (1), 2154
DOI 10.1038/s41467-019-09775-w, PubMed 31089142
Personalized Epigenome Remodeling Under Biochemical and Psychological Changes During Long-Term Isolation Environment
Front Physiol, 10, 932
DOI 10.3389/fphys.2019.00932, PubMed 31417412
3D cell culture models and organ-on-a-chip: Meet separation science and mass spectrometry
Electrophoresis, 41 (1-2), 56-64
DOI 10.1002/elps.201900170, PubMed 31544246
GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways
Nat Commun, 10 (1), 4955
DOI 10.1038/s41467-019-12760-y, PubMed 31672989
Runs of homozygosity and testicular cancer risk
Andrology, 7 (4), 555-564
DOI 10.1111/andr.12667, PubMed 31310061
Biophysical Psychiatry-How Computational Neuroscience Can Help to Understand the Complex Mechanisms of Mental Disorders
Front Psychiatry, 10, 534
DOI 10.3389/fpsyt.2019.00534, PubMed 31440172
Alterations in Schizophrenia-Associated Genes Can Lead to Increased Power in Delta Oscillations
Cereb Cortex, 29 (2), 875-891
DOI 10.1093/cercor/bhy291, PubMed 30475994
Neuropsychiatric phenotype in relation to gene variants in the hemizygous allele in 3q29 deletion carriers: A case series
Mol Genet Genomic Med, 7 (9), e889
DOI 10.1002/mgg3.889, PubMed 31347308
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping
Am J Hum Genet, 104 (4), 749-757
DOI 10.1016/j.ajhg.2019.02.021, PubMed 30905398
Discovery and annotation of novel microRNAs in the porcine genome by using a semi-supervised transductive learning approach
Genomics, 112 (3), 2107-2118
DOI 10.1016/j.ygeno.2019.12.005, PubMed 31816430
International trends in the uptake of cancer risk reduction strategies in women with a BRCA1 or BRCA2 mutation
Br J Cancer, 121 (1), 15-21
DOI 10.1038/s41416-019-0446-1, PubMed 30971774
Causes for Frequent Pathogenic BRCA1 Variants Include Low Penetrance in Fertile Ages, Recurrent De-Novo Mutations and Genetic Drift
Cancers (Basel), 11 (2)
DOI 10.3390/cancers11020132, PubMed 30678073
Inflammatory markers are altered in severe mental disorders independent of comorbid cardiometabolic disease risk factors
Psychol Med, 49 (10), 1749-1757
DOI 10.1017/S0033291718004142, PubMed 30688187
GWAS of Suicide Attempt in Psychiatric Disorders and Association With Major Depression Polygenic Risk Scores
Am J Psychiatry, 176 (8), 651-660
DOI 10.1176/appi.ajp.2019.18080957, PubMed 31164008
Association of Low-Density Lipoprotein Cholesterol With Risk of Aortic Valve Stenosis in Familial Hypercholesterolemia
JAMA Cardiol, 4 (11), 1156-1159
DOI 10.1001/jamacardio.2019.3903, PubMed 31617858
Identification of genetic overlap and novel risk loci for attention-deficit/hyperactivity disorder and bipolar disorder
Mol Psychiatry (in press)
DOI 10.1038/s41380-019-0613-z, PubMed 31792363
Identification of Genetic Loci Shared Between Attention-Deficit/Hyperactivity Disorder, Intelligence, and Educational Attainment
Biol Psychiatry, 87 (12), 1052-1062
DOI 10.1016/j.biopsych.2019.11.015, PubMed 32061372
Infant cholesterol and glycated haemoglobin concentrations vary widely-Associations with breastfeeding, infant diet and maternal biomarkers
Acta Paediatr, 109 (1), 115-121
DOI 10.1111/apa.14936, PubMed 31299108
Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers
Eur Urol, 76 (6), 831-842
DOI 10.1016/j.eururo.2019.08.019, PubMed 31537406
Pyruvate dehydrogenase deficiency
Tidsskr. Nor. Laegeforen., 139 (15), 1473-1476
Pyruvate dehydrogenase deficiency
Tidsskr Nor Laegeforen, 139 (15)
DOI 10.4045/tidsskr.18.0988, PubMed 31642628
Diagnostics of Hereditary Connective Tissue Disorders by Genetic Next-Generation Sequencing
Genet Test Mol Biomarkers, 23 (11), 783-790
DOI 10.1089/gtmb.2019.0064, PubMed 31638417
Comparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries
Atherosclerosis, 292, 178-187
DOI 10.1016/j.atherosclerosis.2019.11.012, PubMed 31809987
GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study
Sci Rep, 9 (1), 7013
DOI 10.1038/s41598-019-43458-2, PubMed 31065058
Exposure to Broad-Spectrum Visible Light Causes Major Transcriptomic Changes in Listeria monocytogenes EGDe
Appl Environ Microbiol, 85 (22)
DOI 10.1128/AEM.01462-19, PubMed 31492665
GWASinlps: non-local prior based iterative SNP selection tool for genome-wide association studies
Bioinformatics, 35 (1), 1-11
DOI 10.1093/bioinformatics/bty472, PubMed 29931045
Genetic architecture of subcortical brain structures in 38,851 individuals
Nat Genet, 51 (11), 1624-1636
DOI 10.1038/s41588-019-0511-y, PubMed 31636452
Reproducible grey matter patterns index a multivariate, global alteration of brain structure in schizophrenia and bipolar disorder
Transl Psychiatry, 9 (1), 12
DOI 10.1038/s41398-018-0225-4, PubMed 30664633
Genetic variants on chromosomes 7p31 and 12p12 are associated with abnormal atrial electrical activation in patients with early-onset lone atrial fibrillation
Ann Noninvasive Electrocardiol, 24 (6), e12661
DOI 10.1111/anec.12661, PubMed 31152482
Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report
Hered Cancer Clin Pract, 17, 8
DOI 10.1186/s13053-019-0106-8, PubMed 30858900
Transcription factor FOXP3: A repressor of the TFPI gene?
J Cell Biochem, 120 (8), 12924-12936
DOI 10.1002/jcb.28563, PubMed 30861202
Effects of long-term feeding of rapeseed meal on skeletal muscle transcriptome, production efficiency and meat quality traits in Norwegian Landrace growing-finishing pigs
PLoS One, 14 (8), e0220441
DOI 10.1371/journal.pone.0220441, PubMed 31390356
Genome-wide analysis reveals extensive genetic overlap between schizophrenia, bipolar disorder, and intelligence
Mol Psychiatry, 25 (4), 844-853
DOI 10.1038/s41380-018-0332-x, PubMed 30610197
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
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
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
Intranasal bevacizumab injections improve quality of life in HHT patients
Laryngoscope, 130 (5), E284-E288
DOI 10.1002/lary.28179, PubMed 31287573
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
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
An Illumina approach to MHC typing of Atlantic salmon
Immunogenetics, 72 (1-2), 89-100
DOI 10.1007/s00251-019-01143-8, PubMed 31713647
Psychosocial complications in juvenile myoclonic epilepsy
Epilepsy Behav, 90, 122-128
DOI 10.1016/j.yebeh.2018.11.022, PubMed 30530133
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
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
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients
J Inherit Metab Dis, 42 (3), 553-564
DOI 10.1002/jimd.12055, PubMed 30746764
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
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
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
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
miRBaseMiner, a tool for investigating miRBase content
RNA Biol, 16 (11), 1534-1546
DOI 10.1080/15476286.2019.1637680, PubMed 31251108
Jasmine: a Java pipeline for isomiR characterization in miRNA-Seq Data
Bioinformatics, 36 (6), 1933-1936
DOI 10.1093/bioinformatics/btz806, PubMed 31681943