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 2017 from OUS - Department of Medical Genetics
75 publications found
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
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
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
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
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
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
Genetic factors influencing prostate cancer risk in Norwegian men
Prostate, 78 (3), 186-192
DOI 10.1002/pros.23453, PubMed 29181843
Infected T98G glioblastoma cells support human cytomegalovirus reactivation from latency
Virology, 510, 205-215
DOI 10.1016/j.virol.2017.07.023, PubMed 28750324
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
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
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
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
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
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
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
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
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
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
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
The systolic paradox in hypertrophic cardiomyopathy
Open Heart, 4 (1), e000571
DOI 10.1136/openhrt-2016-000571, PubMed 28674623
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
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
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
Novel genetic loci associated with hippocampal volume
Nat Commun, 8, 13624
DOI 10.1038/ncomms13624, PubMed 28098162
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
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
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
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
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
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
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
Cardiovascular surgery in Loeys-Dietz syndrome types 1-4
Eur J Cardiothorac Surg, 52 (6), 1125-1131
DOI 10.1093/ejcts/ezx147, PubMed 28541520
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
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
Identification of Gene Loci That Overlap Between Schizophrenia and Educational Attainment
Schizophr Bull, 43 (3), 654-664
DOI 10.1093/schbul/sbw085, PubMed 27338279
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
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
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
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
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
Maternal and neonatal vitamin D status, genotype and childhood celiac disease
PLoS One, 12 (7), e0179080
DOI 10.1371/journal.pone.0179080, PubMed 28686601
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
Combinations of genetic variants associated with bipolar disorder
PLoS One, 12 (12), e0189739
DOI 10.1371/journal.pone.0189739, PubMed 29267373
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
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
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
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
A 50 year old man with proximal power failure and heart disease
Tidsskr. Nor. Laegeforen., 137 (16), 1206-1209
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
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
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
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
Identification of small RNAs in extracellular vesicles from the commensal yeast Malassezia sympodialis
Sci Rep, 7, 39742
DOI 10.1038/srep39742, PubMed 28051166
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
Severe hypertriglyceridemia in Norway: prevalence, clinical and genetic characteristics
Lipids Health Dis, 16 (1), 115
DOI 10.1186/s12944-017-0511-9, PubMed 28606150
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
Novel UCHL1 mutations reveal new insights into ubiquitin processing
Hum Mol Genet, 26 (6), 1031-1040
DOI 10.1093/hmg/ddw391, PubMed 28007905
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
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
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
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
Probing the Association between Early Evolutionary Markers and Schizophrenia
PLoS One, 12 (1), e0169227
DOI 10.1371/journal.pone.0169227, PubMed 28081145
Increased expression of TFPI in human carotid stenosis
Thromb Res, 155, 31-37
DOI 10.1016/j.thromres.2017.04.024, PubMed 28482260
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
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
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
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
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
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
A comprehensive profile of circulating RNAs in human serum
RNA Biol, 15 (2), 242-250
DOI 10.1080/15476286.2017.1403003, PubMed 29219730
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
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
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
Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases
JAMA Neurol, 74 (7), 780-792
DOI 10.1001/jamaneurol.2017.0469, PubMed 28586827
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