Publications published since 2015 from OUS - Department of Medical Genetics
1035 publications found (only first 1000 shown)
Publications 2024
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COSGAP: COntainerized Statistical Genetics Analysis Pipelines
Bioinform Adv, 4 (1), vbae067
DOI 10.1093/bioadv/vbae067, PubMed 38808072 -
Modeling of Mouse Experiments Suggests that Optimal Anti-Hormonal Treatment for Breast Cancer is Diet-Dependent
Bull Math Biol, 86 (4), 42
DOI 10.1007/s11538-023-01253-1, PubMed 38498130 -
Poor muscle health and cardiometabolic risks associated with antidepressant treatment
Obesity (Silver Spring), 32 (10), 1857-1869
DOI 10.1002/oby.24085, PubMed 39315407 -
Toxoplasma gondii infection associated with inflammasome activation and neuronal injury
Sci Rep, 14 (1), 5327
DOI 10.1038/s41598-024-55887-9, PubMed 38438515 -
Stroke and bleeding risk in atrial fibrillation with CHA2DS2-VASC risk score of one: the Norwegian AFNOR study
Eur Heart J, 45 (1), 57-66
DOI 10.1093/eurheartj/ehad659, PubMed 37995254 -
Integrative pan-cancer analysis reveals a common architecture of dysregulated transcriptional networks characterized by loss of enhancer methylation
PLoS Comput Biol, 20 (11), e1012565 (in press)
DOI 10.1371/journal.pcbi.1012565, PubMed 39556603 -
Rare copy number variation in autoimmune Addison's disease
Front Immunol, 15, 1374499
DOI 10.3389/fimmu.2024.1374499, PubMed 38562931 -
Rare copy number variant analysis in case-control studies using snp array data: a scalable and automated data analysis pipeline
BMC Bioinformatics, 25 (1), 357
DOI 10.1186/s12859-024-05979-0, PubMed 39548362 -
The effects of oxytocin administration on social and routinized behaviors in autism: A preregistered systematic review and meta-analysis
Psychoneuroendocrinology, 167, 107067
DOI 10.1016/j.psyneuen.2024.107067, PubMed 38815399 -
The singular French PCSK9-p.Ser127Arg gain-of-function variant: A significant player in cholesterol levels from a 775-year-old common ancestor
Atherosclerosis, 399, 118596 (in press)
DOI 10.1016/j.atherosclerosis.2024.118596, PubMed 39500114 -
The genetic landscape of basal ganglia and implications for common brain disorders
Nat Commun, 15 (1), 8476
DOI 10.1038/s41467-024-52583-0, PubMed 39353893 -
A novel saliva-based miRNA profile to diagnose and predict oral cancer
Int J Oral Sci, 16 (1), 14
DOI 10.1038/s41368-023-00273-w, PubMed 38368395 -
Dissecting unique and common variance across body and brain health indicators using age prediction
Hum Brain Mapp, 45 (6), e26685
DOI 10.1002/hbm.26685, PubMed 38647042 -
Targeting chromosomal instability and aneuploidy in cancer
Trends Pharmacol Sci, 45 (3), 210-224
DOI 10.1016/j.tips.2024.01.009, PubMed 38355324 -
Youth Psychotic Experiences: Diagnostic Associations and Evaluation of the CAPE-16
medRxiv
DOI 10.1101/2024.04.18.24306017, PubMed 38699352 -
Flavonoids regulate LDLR through different mechanisms tied to their specific structures
J Lipid Res, 65 (5), 100539
DOI 10.1016/j.jlr.2024.100539, PubMed 38556050 -
Publisher Correction: A 39 kb structural variant causing Lynch syndrome detected by optical genome mapping and nanopore sequencing
Eur J Hum Genet, 32 (5), 601-602
DOI 10.1038/s41431-023-01519-1, PubMed 38172175 -
shinyseg: a web application for flexible cosegregation and sensitivity analysis
Bioinformatics, 40 (5)
DOI 10.1093/bioinformatics/btae201, PubMed 38598476 -
High-throughput sequencing of insect specimens with sub-optimal DNA preservation using a practical, plate-based Illumina-compatible Tn5 transposase library preparation method
PLoS One, 19 (3), e0300865
DOI 10.1371/journal.pone.0300865, PubMed 38517905 -
Scientific Business Abstracts
QJM (in press)
DOI 10.1093/qjmed/hcae157, PubMed 39298287 -
Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset
Am J Hum Genet, 111 (9), 2059-2069
DOI 10.1016/j.ajhg.2024.07.004, PubMed 39096911 -
Correction to: Claudin-10 is a new candidate prognostic marker in metastatic high-grade serous carcinoma
Virchows Arch, 484 (5), 875
DOI 10.1007/s00428-023-03567-w, PubMed 37261507 -
The protein phosphatase EYA4 promotes homologous recombination (HR) through dephosphorylation of tyrosine 315 on RAD51
Nucleic Acids Res, 52 (3), 1173-1187
DOI 10.1093/nar/gkad1177, PubMed 38084915 -
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules
Science, 384 (6694), eadf5489
DOI 10.1126/science.adf5489, PubMed 38662826 -
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome
Brain, 147 (5), 1822-1836
DOI 10.1093/brain/awae010, PubMed 38217872 -
Improving bioinformatics software quality through teamwork
Bioinformatics, 40 (11)
DOI 10.1093/bioinformatics/btae632, PubMed 39436982 -
The NEOLETRIB trial: neoadjuvant treatment with Letrozole and Ribociclib in ER-positive, HER2-negative breast cancer
Future Oncol, 20 (32), 2457-2466
DOI 10.1080/14796694.2024.2377531, PubMed 39073142 -
An integrated omics approach highlights how epigenetic events can explain and predict response to neoadjuvant chemotherapy and bevacizumab in breast cancer
Mol Oncol, 18 (8), 2042-2059
DOI 10.1002/1878-0261.13656, PubMed 38671580 -
Genomic analysis of intracranial and subcortical brain volumes yields polygenic scores accounting for variation across ancestries
Nat Genet, 56 (11), 2333-2344
DOI 10.1038/s41588-024-01951-z, PubMed 39433889 -
Genomic analysis of intracranial and subcortical brain volumes yields polygenic scores accounting for variation across ancestries
medRxiv
DOI 10.1101/2024.08.13.24311922, PubMed 39371125 -
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly
Commun Biol, 7 (1), 831
DOI 10.1038/s42003-024-06466-1, PubMed 38977784 -
Homozygous TREM2 c.549del; p.(Leu184Serfs*5) variant causing Nasu-Hakola disease in three siblings in a consanguineous Iraqi family: Case report and review of literature
Mol Genet Genomic Med, 12 (6), e2476
DOI 10.1002/mgg3.2476, PubMed 38888203 -
Outcomes of 10 years of PSA screening for prostate cancer in Norwegian men with Lynch syndrome
Prostate, 84 (10), 945-953
DOI 10.1002/pros.24711, PubMed 38629217 -
Linking sarcopenia, brain structure and cognitive performance: a large-scale UK Biobank study
Brain Commun, 6 (2), fcae083
DOI 10.1093/braincomms/fcae083, PubMed 38510210 -
Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS)
Cancers (Basel), 16 (5)
DOI 10.3390/cancers16050953, PubMed 38473316 -
Corrigendum to "Cross-trait genome-wide association analysis of C-reactive protein level and psychiatric disorders" [Psychoneuroendocrinology 157 (2023) 106368]
Psychoneuroendocrinology, 162, 106980
DOI 10.1016/j.psyneuen.2024.106980, PubMed 38336601 -
Bipolar patients display stoichiometric imbalance of gene expression in post-mortem brain samples
Mol Psychiatry, 29 (4), 1128-1138
DOI 10.1038/s41380-023-02398-0, PubMed 38351171 -
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease
Brain, 147 (4), 1197-1205
DOI 10.1093/brain/awad434, PubMed 38141063 -
The impact of hysterectomy on subsequent colonoscopy in women with Lynch Syndrome
Scand J Gastroenterol, 59 (8), 1015-1020
DOI 10.1080/00365521.2024.2366969, PubMed 38946231 -
Gene-based burden tests of rare germline variants identify six cancer susceptibility genes
Nat Genet, 56 (11), 2422-2433
DOI 10.1038/s41588-024-01966-6, PubMed 39472694 -
Heterozygosity for the Budapest 3 mutation in SERPINC1 in a family with thrombophilia and structural anomalies of the inferior vena cava
Thromb J, 22 (1), 75
DOI 10.1186/s12959-024-00644-1, PubMed 39129027 -
Genetic testing for familial hypercholesterolemia in a Finnish cohort of patients with premature coronary artery disease and elevated LDL-C levels
Front Cardiovasc Med, 11, 1433042
DOI 10.3389/fcvm.2024.1433042, PubMed 39131706 -
Leber Hereditary Optic Neuropathy Case Report: Clinical Presentation and Treatment with Idebenone Reinforce the Evidence for m.3866T>C as a Causative Variant
Case Rep Ophthalmol, 15 (1), 513-517
DOI 10.1159/000539445, PubMed 39015230 -
Sex differences in early-onset atrial fibrillation in Norwegian primary care: a retrospective national database analysis
Open Heart, 11 (2)
DOI 10.1136/openhrt-2024-002695, PubMed 39164045 -
Genetic testing in early-onset atrial fibrillation
Eur Heart J, 45 (34), 3111-3123
DOI 10.1093/eurheartj/ehae298, PubMed 39028637 -
Dissecting the Shared Genetic Architecture of Common Epilepsies With Cortical Brain Morphology
Neurol Genet, 10 (3), e200143
DOI 10.1212/NXG.0000000000200143, PubMed 38817246 -
Unraveling the shared genetics of common epilepsies and general cognitive ability
medRxiv
DOI 10.1101/2024.03.25.24304773, PubMed 38585944 -
Unraveling the shared genetics of common epilepsies and general cognitive ability
Seizure, 122, 105-112
DOI 10.1016/j.seizure.2024.09.016, PubMed 39388989 -
Tracheobronchomalacia is common in children with primary ciliary dyskinesia-A case note review
Pediatr Pulmonol (in press)
DOI 10.1002/ppul.27262, PubMed 39291788 -
Understanding the genetic complexity of puberty timing across the allele frequency spectrum
Nat Genet, 56 (7), 1397-1411
DOI 10.1038/s41588-024-01798-4, PubMed 38951643 -
Publisher Correction: Understanding the genetic complexity of puberty timing across the allele frequency spectrum
Nat Genet, 56 (8), 1763-1764
DOI 10.1038/s41588-024-01857-w, PubMed 38982295 -
Transcriptomic and proteomic analysis of the virulence inducing effect of ciprofloxacin on enterohemorrhagic Escherichia coli
PLoS One, 19 (5), e0298746
DOI 10.1371/journal.pone.0298746, PubMed 38787890 -
Deep learning for automated scoring of immunohistochemically stained tumour tissue sections - Validation across tumour types based on patient outcomes
Heliyon, 10 (13), e32529
DOI 10.1016/j.heliyon.2024.e32529, PubMed 39040241 -
Diverse mutant selection windows shape spatial heterogeneity in evolving populations
PLoS Comput Biol, 20 (2), e1011878
DOI 10.1371/journal.pcbi.1011878, PubMed 38386690 -
Polygenic liability for antipsychotic dosage and polypharmacy - a real-world registry and biobank study
Neuropsychopharmacology, 49 (7), 1113-1119
DOI 10.1038/s41386-023-01792-0, PubMed 38184734 -
How Real-World Data Can Facilitate the Development of Precision Medicine Treatment in Psychiatry
Biol Psychiatry, 96 (7), 543-551
DOI 10.1016/j.biopsych.2024.01.001, PubMed 38185234 -
Using rare genetic mutations to revisit structural brain asymmetry
Nat Commun, 15 (1), 2639
DOI 10.1038/s41467-024-46784-w, PubMed 38531844 -
Author Correction: Using rare genetic mutations to revisit structural brain asymmetry
Nat Commun, 15 (1), 3098
DOI 10.1038/s41467-024-47545-5, PubMed 38600109 -
Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study
Ann Clin Transl Neurol, 11 (7), 1819-1830
DOI 10.1002/acn3.52088, PubMed 38845467 -
Sex differences in DNA methylation variations according to ART conception-evidence from the Norwegian mother, father, and child cohort study
Sci Rep, 14 (1), 22904
DOI 10.1038/s41598-024-73845-3, PubMed 39358554 -
Correspondence on "Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants" by Vogel et al
Genet Med, 26 (3), 101038
DOI 10.1016/j.gim.2023.101038, PubMed 38226981 -
Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield
Sci Rep, 14 (1), 4306
DOI 10.1038/s41598-024-54866-4, PubMed 38383731 -
Genome-wide association analysis of treatment resistant schizophrenia for variant discovery and polygenic assessment
Hum Genomics, 18 (1), 108
DOI 10.1186/s40246-024-00673-x, PubMed 39334510 -
Coagulation factor V in breast cancer: a p53-regulated tumor suppressor and predictive marker for treatment response to chemotherapy
J Thromb Haemost, 22 (6), 1569-1582
DOI 10.1016/j.jtha.2024.02.008, PubMed 38382738 -
Germline polygenic risk scores are associated with immune gene expression signature and immune cell infiltration in breast cancer
Am J Hum Genet, 111 (10), 2150-2163
DOI 10.1016/j.ajhg.2024.08.009, PubMed 39270649 -
Student Suicide in India: An Analysis of Newspaper Articles (2019-2023)
Early Interv Psychiatry (in press)
DOI 10.1111/eip.13616, PubMed 39380363 -
Frequency-dependent ecological interactions increase the prevalence, and shape the distribution, of pre-existing drug resistance
bioRxiv
DOI 10.1101/2023.03.16.533001, PubMed 36993678 -
Gene expression profiling in elderly patients with familial hypercholesterolemia with and without coronary heart disease
Atherosclerosis, 392, 117507
DOI 10.1016/j.atherosclerosis.2024.117507, PubMed 38663317 -
A mild skeletal phenotype with overlapping features of Miller syndrome and functional characterisation of two new variants of human dihydroorotate dehydrogenase
Heliyon, 10 (19), e38659
DOI 10.1016/j.heliyon.2024.e38659, PubMed 39430512 -
Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome
Genes (Basel), 15 (4)
DOI 10.3390/genes15040500, PubMed 38674434 -
Telomere biology and its maintenance in schizophrenia spectrum disorders: Exploring links to cognition
Schizophr Res, 272, 89-95
DOI 10.1016/j.schres.2024.08.011, PubMed 39208769 -
Genetic mechanisms for impaired synaptic plasticity in schizophrenia revealed by computational modeling
Proc Natl Acad Sci U S A, 121 (34), e2312511121
DOI 10.1073/pnas.2312511121, PubMed 39141354 -
Incidence of peritoneal cancer after oophorectomy among BRCA1 and BRCA2 mutation carriers
J Natl Cancer Inst, 116 (11), 1753-1760
DOI 10.1093/jnci/djae151, PubMed 38937272 -
Truncating NFKB1 variants cause combined NLRP3 inflammasome activation and type I interferon signaling and predispose to necrotizing fasciitis
Cell Rep Med, 5 (4), 101503
DOI 10.1016/j.xcrm.2024.101503, PubMed 38593810 -
Identification of transcription factor co-binding patterns with non-negative matrix factorization
Nucleic Acids Res, 52 (18), e85
DOI 10.1093/nar/gkae743, PubMed 39217462 -
JASPAR 2024: 20th anniversary of the open-access database of transcription factor binding profiles
Nucleic Acids Res, 52 (D1), D174-D182
DOI 10.1093/nar/gkad1059, PubMed 37962376 -
Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA
Orphanet J Rare Dis, 19 (1), 213
DOI 10.1186/s13023-024-03196-9, PubMed 38778413 -
Correction to: Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA
Orphanet J Rare Dis, 19 (1), 369
DOI 10.1186/s13023-024-03296-6, PubMed 39375751 -
Differential levels of circulating RNAs prior to endometrial cancer diagnosis
Int J Cancer, 155 (5), 946-956
DOI 10.1002/ijc.34951, PubMed 38733362 -
[The central health registries gathered under one owner]
Tidsskr Nor Laegeforen, 144 (5)
DOI 10.4045/tidsskr.24.0102, PubMed 38651720 -
An evolutionary timeline of the oxytocin signaling pathway
Commun Biol, 7 (1), 471
DOI 10.1038/s42003-024-06094-9, PubMed 38632466 -
Computational Model Predicts Patient Outcomes in Luminal B Breast Cancer Treated with Endocrine Therapy and CDK4/6 Inhibition
Clin Cancer Res, 30 (17), 3779-3787
DOI 10.1158/1078-0432.CCR-24-0244, PubMed 38922642 -
Genetic susceptibility to neurodevelopmental conditions associates with neonatal DNA methylation patterns in the general population: an individual participant data meta-analysis
medRxiv
DOI 10.1101/2024.07.01.24309384, PubMed 39006433 -
Advancing Research and Treatment: An Overview of Clinical Trials in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) and Future Perspectives
J Clin Med, 13 (2)
DOI 10.3390/jcm13020325, PubMed 38256459 -
Dissecting the genetic overlap between three complex phenotypes with trivariate MiXeR
medRxiv
DOI 10.1101/2024.02.23.24303236, PubMed 38464132 -
Copy number alterations: a catastrophic orchestration of the breast cancer genome
Trends Mol Med, 30 (8), 750-764
DOI 10.1016/j.molmed.2024.04.017, PubMed 38772764 -
Cell-cell fusion in cancer: The next cancer hallmark?
Int J Biochem Cell Biol, 175, 106649
DOI 10.1016/j.biocel.2024.106649, PubMed 39186970 -
PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants
Hered Cancer Clin Pract, 22 (1), 20
DOI 10.1186/s13053-024-00292-6, PubMed 39334433 -
Elevated TFPI is a prognostic factor in hepatocellular carcinoma: Putative role of miR-7-5p and miR-1236-3p
Thromb Res, 241, 109073
DOI 10.1016/j.thromres.2024.109073, PubMed 38945092 -
Citalopram exposure of hESCs during neuronal differentiation identifies dysregulated genes involved in neurodevelopment and depression
Front Cell Dev Biol, 12, 1428538
DOI 10.3389/fcell.2024.1428538, PubMed 39055655 -
A PSA SNP associates with cellular function and clinical outcome in men with prostate cancer
Nat Commun, 15 (1), 9587
DOI 10.1038/s41467-024-52472-6, PubMed 39505858 -
Foetal Microchimerism Correlates With Foetal-Maternal Histocompatibility Both During Pregnancy and Postpartum
HLA, 104 (4), e15717
DOI 10.1111/tan.15717, PubMed 39435899 -
Molecular genetics in 1991 arrhythmia probands and 2782 relatives in Norway: Results from 17 years of genetic testing in a national laboratory
Clin Genet, 106 (5), 585-602
DOI 10.1111/cge.14593, PubMed 39073097 -
Homozygosity for R47H in TREM2 and the Risk of Alzheimer's Disease
N Engl J Med, 390 (23), 2217-2219
DOI 10.1056/NEJMc2314334, PubMed 38899702 -
Genome-wide association study identifies 30 obsessive-compulsive disorder associated loci
medRxiv
DOI 10.1101/2024.03.13.24304161, PubMed 38712091 -
Elevated levels of peripheral and central nervous system immune markers reflect innate immune dysregulation in autism spectrum disorder
Psychiatry Res, 342, 116245 (in press)
DOI 10.1016/j.psychres.2024.116245, PubMed 39481220 -
Cognitive and inflammatory heterogeneity in severe mental illness: Translating findings from blood to brain
Brain Behav Immun, 118, 287-299
DOI 10.1016/j.bbi.2024.03.014, PubMed 38461955 -
Identification of Novel Genomic Loci for Anxiety and Extensive Genetic Overlap with Psychiatric Disorders
medRxiv
DOI 10.1101/2023.09.01.23294920, PubMed 37693403 -
Identification of novel genomic loci for anxiety symptoms and extensive genetic overlap with psychiatric disorders
Psychiatry Clin Neurosci (in press)
DOI 10.1111/pcn.13742, PubMed 39301620 -
The breast cancer coagulome in the tumor microenvironment and its role in prognosis and treatment response to chemotherapy
J Thromb Haemost, 22 (5), 1319-1335
DOI 10.1016/j.jtha.2024.01.003, PubMed 38237862 -
Abundant pleiotropy across neuroimaging modalities identified through a multivariate genome-wide association study
Nat Commun, 15 (1), 2655
DOI 10.1038/s41467-024-46817-4, PubMed 38531894 -
Benign breast tumors may arise on different immunological backgrounds
Mol Oncol, 18 (10), 2495-2509
DOI 10.1002/1878-0261.13655, PubMed 38757377 -
Transcriptomics of early responses to purified Piscine orthoreovirus-1 in Atlantic salmon (Salmo salar L.) red blood cells compared to non-susceptible cell lines
Front Immunol, 15, 1359552
DOI 10.3389/fimmu.2024.1359552, PubMed 38420125 -
Clustering Schizophrenia Genes by Their Temporal Expression Patterns Aids Functional Interpretation
Schizophr Bull, 50 (2), 327-338
DOI 10.1093/schbul/sbad140, PubMed 37824720 -
Divergent epigenetic responses to perinatal asphyxia in severe mental disorders
Transl Psychiatry, 14 (1), 16
DOI 10.1038/s41398-023-02709-7, PubMed 38191519 -
Using birth-death processes to infer tumor subpopulation structure from live-cell imaging drug screening data
PLoS Comput Biol, 20 (3), e1011888
DOI 10.1371/journal.pcbi.1011888, PubMed 38446830 -
Differences in polygenic score distributions in European ancestry populations: implications for breast cancer risk prediction
medRxiv
DOI 10.1101/2024.02.12.24302043, PubMed 38410445 -
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification
medRxiv
DOI 10.1101/2024.09.04.24313051, PubMed 39281752 -
[Not Available]
Tidsskr Nor Laegeforen, 144
DOI 10.4045/tidsskr.24.0236, PubMed 38738573
Publications 2023
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hSSB1 (NABP2/OBFC2B) modulates the DNA damage and androgen-induced transcriptional response in prostate cancer
Prostate, 83 (7), 628-640
DOI 10.1002/pros.24496, PubMed 36811381 -
Longitudinal Transcriptomic Analysis of Human Cortical Spheroids Identifies Axonal Dysregulation in the Prenatal Brain as a Mediator of Genetic Risk for Schizophrenia
Biol Psychiatry, 95 (7), 687-698
DOI 10.1016/j.biopsych.2023.08.017, PubMed 37661009 -
Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45A
J Hepatol, 79 (4), 945-954
DOI 10.1016/j.jhep.2023.05.037, PubMed 37328071 -
Proteomic Analysis of Human iPSC-Derived Neural Stem Cells and Motor Neurons Identifies Proteasome Structural Alterations
Cells, 12 (24)
DOI 10.3390/cells12242800, PubMed 38132120 -
Feasibility of Patient-Managed ECG Recordings to Detect the Time of Atrial Fibrillation Recurrence after Electrical Cardioversion: Results from the PRE-ELECTRIC Study
Cardiology, 148 (4), 347-352
DOI 10.1159/000530304, PubMed 37040720 -
Mutant P53 in the formation and progression of the tumor microenvironment: Friend or foe
Life Sci, 315, 121361
DOI 10.1016/j.lfs.2022.121361, PubMed 36608871 -
Genome-wide analysis of anorexia nervosa and major psychiatric disorders and related traits reveals genetic overlap and identifies novel risk loci for anorexia nervosa
Transl Psychiatry, 13 (1), 291
DOI 10.1038/s41398-023-02585-1, PubMed 37658054 -
Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays
BMC Cancer, 23 (1), 368
DOI 10.1186/s12885-023-10790-w, PubMed 37085799 -
Stochastic epithelial-mesenchymal transitions diversify non-cancerous lung cell behaviours
Transl Oncol, 37, 101760
DOI 10.1016/j.tranon.2023.101760, PubMed 37611490 -
Psychometric Properties and Diagnostic Associations of the Short-Form Community Assessment of Psychic Experiences in a Population-Based Sample of 29 021 Adult Men
Schizophr Bull, 49 (5), 1229-1238
DOI 10.1093/schbul/sbad074, PubMed 37262330 -
Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report
BMC Endocr Disord, 23 (1), 155
DOI 10.1186/s12902-023-01388-1, PubMed 37474955 -
[A woman in her thirties with frequent mucosal ulcers]
Tidsskr Nor Laegeforen, 143 (8)
DOI 10.4045/tidsskr.22.0650, PubMed 37254975 -
A 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing
Eur J Hum Genet, 32 (5), 513-520
DOI 10.1038/s41431-023-01494-7, PubMed 38030917 -
No signs of neurodegenerative effects in 15q11.2 BP1-BP2 copy number variant carriers in the UK Biobank
Transl Psychiatry, 13 (1), 61
DOI 10.1038/s41398-023-02358-w, PubMed 36807331 -
Beyond the Global Brain Differences: Intraindividual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers
Biol Psychiatry, 95 (2), 147-160
DOI 10.1016/j.biopsych.2023.08.018, PubMed 37661008 -
HLA-DQ2 is associated with anti-drug antibody formation to infliximab in patients with immune-mediated inflammatory diseases
J Intern Med, 293 (5), 648-655
DOI 10.1111/joim.13616, PubMed 36843323 -
[Not Available]
Tidsskr Nor Laegeforen, 143 (18)
DOI 10.4045/tidsskr.23.0733, PubMed 38088291 -
The relationship between cannabis use, schizophrenia, and bipolar disorder: a genetically informed study
Lancet Psychiatry, 10 (6), 441-451
DOI 10.1016/S2215-0366(23)00143-8, PubMed 37208114 -
Effectiveness and safety of everolimus treatment in patients with tuberous sclerosis complex in real-world clinical practice
Orphanet J Rare Dis, 18 (1), 377
DOI 10.1186/s13023-023-02982-1, PubMed 38042867 -
Clinical and Biochemical Characteristics of Untreated Adult Patients With Resistance to Thyroid Hormone Alpha
J Endocr Soc, 7 (8), bvad089
DOI 10.1210/jendso/bvad089, PubMed 37469961 -
Evaluating Approaches for Constructing Polygenic Risk Scores for Prostate Cancer in Men of African and European Ancestry
medRxiv
DOI 10.1101/2023.05.12.23289860, PubMed 37292833 -
Evaluating approaches for constructing polygenic risk scores for prostate cancer in men of African and European ancestry
Am J Hum Genet, 110 (7), 1200-1206
DOI 10.1016/j.ajhg.2023.05.010, PubMed 37311464 -
Claudin-10 is a new candidate prognostic marker in metastatic high-grade serous carcinoma
Virchows Arch, 482 (6), 975-982
DOI 10.1007/s00428-023-03541-6, PubMed 37067588 -
Capturing the SARS-CoV-2 infection pyramid within the municipality of Rotterdam using longitudinal sewage surveillance
Sci Total Environ, 883, 163599
DOI 10.1016/j.scitotenv.2023.163599, PubMed 37100150 -
EYA4 promotes breast cancer progression and metastasis through its role in replication stress avoidance
Mol Cancer, 22 (1), 158
DOI 10.1186/s12943-023-01861-4, PubMed 37777742 -
Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores
Nat Commun, 14 (1), 716
DOI 10.1038/s41467-023-36192-x, PubMed 36759603 -
The microbiota of uterine biopsies, cytobrush and vaginal swabs at artificial insemination in Norwegian red cows
Theriogenology, 209, 115-125
DOI 10.1016/j.theriogenology.2023.06.024, PubMed 37390751 -
GWAS Meta-Analysis of Suicide Attempt: Identification of 12 Genome-Wide Significant Loci and Implication of Genetic Risks for Specific Health Factors
Am J Psychiatry, 180 (10), 723-738
DOI 10.1176/appi.ajp.21121266, PubMed 37777856 -
Gene expression profiling of subcutaneous adipose tissue reveals new biomarkers in acromegaly
Eur J Endocrinol, 188 (3)
DOI 10.1093/ejendo/lvad031, PubMed 36895180 -
FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women
Eur J Hum Genet, 31 (5), 578-587
DOI 10.1038/s41431-022-01257-w, PubMed 36707629 -
Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases
Cancers (Basel), 15 (13)
DOI 10.3390/cancers15133313, PubMed 37444426 -
Shared genetic loci between Alzheimer's disease and multiple sclerosis: Crossroads between neurodegeneration and immune system
Neurobiol Dis, 183, 106174
DOI 10.1016/j.nbd.2023.106174, PubMed 37286172 -
OnTarget: in silico design of MiniPromoters for targeted delivery of expression
Nucleic Acids Res, 51 (W1), W379-W386
DOI 10.1093/nar/gkad375, PubMed 37166953 -
Comparison between articular chondrocytes and mesenchymal stromal cells for the production of articular cartilage implants
Front Bioeng Biotechnol, 11, 1116513
DOI 10.3389/fbioe.2023.1116513, PubMed 36896010 -
A single amino acid deletion in the ER Ca2+ sensor STIM1 reverses the in vitro and in vivo effects of the Stormorken syndrome-causing R304W mutation
Sci Signal, 16 (771), eadd0509
DOI 10.1126/scisignal.add0509, PubMed 36749824 -
Nucleated red blood cells explain most of the association between DNA methylation and gestational age
Commun Biol, 6 (1), 224
DOI 10.1038/s42003-023-04584-w, PubMed 36849614 -
Spatial cumulant models enable spatially informed treatment strategies and analysis of local interactions in cancer systems
J Math Biol, 86 (5), 68
DOI 10.1007/s00285-023-01903-x, PubMed 37017776 -
Multimodal human thymic profiling reveals trajectories and cellular milieu for T agonist selection
Front Immunol, 13, 1092028
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Human thymic putative CD8αα precursors exhibit a biased TCR repertoire in single cell AIRR-seq
Sci Rep, 13 (1), 17714
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Cross-trait genome-wide association analysis of C-reactive protein level and psychiatric disorders
Psychoneuroendocrinology, 157, 106368
DOI 10.1016/j.psyneuen.2023.106368, PubMed 37659117 -
Multivariate genetic analysis of personality and cognitive traits reveals abundant pleiotropy
Nat Hum Behav, 7 (9), 1584-1600
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Impulsivity across severe mental disorders: a cross-sectional study of immune markers and psychopharmacotherapy
BMC Psychiatry, 23 (1), 659
DOI 10.1186/s12888-023-05154-4, PubMed 37674162 -
Genome-wide analyses reveal shared genetic architecture and novel risk loci between opioid use disorder and general cognitive ability
Drug Alcohol Depend, 256, 111058
DOI 10.1016/j.drugalcdep.2023.111058, PubMed 38244365 -
Genome-wide analyses reveal novel opioid use disorder loci and genetic overlap with schizophrenia, bipolar disorder, and major depression
Addict Biol, 28 (6), e13282
DOI 10.1111/adb.13282, PubMed 37252880 -
Bidirectional genetic overlap between autism spectrum disorder and cognitive traits
Transl Psychiatry, 13 (1), 295
DOI 10.1038/s41398-023-02563-7, PubMed 37709755 -
Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions
Genes (Basel), 14 (2)
DOI 10.3390/genes14020262, PubMed 36833189 -
Circulating tumour DNA alterations: emerging biomarker in head and neck squamous cell carcinoma
J Biomed Sci, 30 (1), 65
DOI 10.1186/s12929-023-00953-z, PubMed 37559138 -
A comparison between mutational profiles in tumour tissue DNA and circulating tumour DNA in head and neck squamous cell carcinoma - A systematic review
Mutat Res Rev Mutat Res, 793, 108477
DOI 10.1016/j.mrrev.2023.108477, PubMed 37977279 -
Identification of Novel Loci and Cross-Disorder Pleiotropy Through Multi-Ancestry Genome-Wide Analysis of Alcohol Use Disorder in Over One Million Individuals
Res Sq
DOI 10.21203/rs.3.rs-3755915/v1, PubMed 38196616 -
Rise and fall of SARS-CoV-2 variants in Rotterdam: Comparison of wastewater and clinical surveillance
Sci Total Environ, 873, 162209
DOI 10.1016/j.scitotenv.2023.162209, PubMed 36796689 -
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13
NPJ Genom Med, 8 (1), 39
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Genome-wide Association Analysis of Schizophrenia and Vitamin D Levels Shows Shared Genetic Architecture and Identifies Novel Risk Loci
Schizophr Bull, 49 (6), 1654-1664
DOI 10.1093/schbul/sbad063, PubMed 37163672 -
Associations Between Symptoms of Premenstrual Disorders and Polygenic Liability for Major Psychiatric Disorders
JAMA Psychiatry, 80 (7), 738-742
DOI 10.1001/jamapsychiatry.2023.1137, PubMed 37163253 -
The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study
Epilepsy Res, 190, 107099
DOI 10.1016/j.eplepsyres.2023.107099, PubMed 36731270 -
Corrigendum to "The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study" [Epilepsy Res. 190 (2023) 107099]
Epilepsy Res, 198, 107113
DOI 10.1016/j.eplepsyres.2023.107113, PubMed 36906427 -
Elevated Systemic Levels of Markers Reflecting Intestinal Barrier Dysfunction and Inflammasome Activation Are Correlated in Severe Mental Illness
Schizophr Bull, 49 (3), 635-645
DOI 10.1093/schbul/sbac191, PubMed 36462169 -
Human cytomegalovirus infection perturbs neural progenitor cell fate via the expression of viral microRNAs
J Med Virol, 95 (2), e28574
DOI 10.1002/jmv.28574, PubMed 36772841 -
Elevated FVIII levels in hereditary hemorrhagic telangiectasia: Implications for clinical management
Laryngoscope Investig Otolaryngol, 9 (1), e1196
DOI 10.1002/lio2.1196, PubMed 38362186 -
Identification of novel genomic risk loci shared between common epilepsies and psychiatric disorders
Brain, 146 (8), 3392-3403
DOI 10.1093/brain/awad038, PubMed 36757824 -
Understanding the genetic complexity of puberty timing across the allele frequency spectrum
medRxiv
DOI 10.1101/2023.06.14.23291322, PubMed 37503126 -
Expanding phenotype heterogeneity of NARS2 by presenting subdural hematoma and parenchymal hemorrhage
J Clin Lab Anal, 37 (21-22), e24983
DOI 10.1002/jcla.24983, PubMed 37950505 -
Rare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence
Nat Hum Behav, 7 (6), 1001-1017
DOI 10.1038/s41562-023-01541-9, PubMed 36864136 -
Using rare genetic mutations to revisit structural brain asymmetry
bioRxiv
DOI 10.1101/2023.04.17.537199, PubMed 37131672 -
Subcortical Brain Alterations in Carriers of Genomic Copy Number Variants
Am J Psychiatry, 180 (9), 685-698
DOI 10.1176/appi.ajp.20220304, PubMed 37434504 -
Subcortical brain alterations in carriers of genomic copy number variants
medRxiv
DOI 10.1101/2023.02.14.23285913, PubMed 36865328 -
Relationship between physical and psychological functioning and health-related quality of life in congenital Aniridia
Acta Ophthalmol, 102 (5), 590-599
DOI 10.1111/aos.16615, PubMed 38131258 -
Nasal responses to elevated temperature and Francisella noatunensis infection in Atlantic cod (Gadus morhua)
Genomics, 115 (6), 110735
DOI 10.1016/j.ygeno.2023.110735, PubMed 37898334 -
Comparative basal transcriptome profiles of the olfactory rosette and gills of Atlantic salmon (Salmo salar) unveil shared and distinct immunological features
Genomics, 115 (3), 110632
DOI 10.1016/j.ygeno.2023.110632, PubMed 37127252 -
Increased ferroptosis in leukocytes from preeclamptic women involving the long non-coding taurine upregulated gene 1 (TUG1)
J Intern Med, 295 (2), 181-195
DOI 10.1111/joim.13732, PubMed 37870937 -
Platelet and mitochondrial RNA is decreased in plasma-derived extracellular vesicles in women with preeclampsia-an exploratory study
BMC Med, 21 (1), 458
DOI 10.1186/s12916-023-03178-x, PubMed 37996819 -
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel
J Med Genet, 60 (12), 1186-1197
DOI 10.1136/jmg-2023-109185, PubMed 37451831 -
Analysis of Spatial Molecular Data
Methods Mol Biol, 2614, 349-356
DOI 10.1007/978-1-0716-2914-7_20, PubMed 36587134 -
Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype
Brain, 146 (3), 912-922
DOI 10.1093/brain/awac488, PubMed 36542484 -
MicroRNA-143-5p Suppresses ER-Positive Breast Cancer Development by Targeting Oncogenic HMGA2
Clin Breast Cancer, 23 (7), e480-e490.e3
DOI 10.1016/j.clbc.2023.07.011, PubMed 37596147 -
Risk-reducing mastectomy and breast cancer mortality in women with a BRCA1 or BRCA2 pathogenic variant: an international analysis
Br J Cancer, 130 (2), 269-274
DOI 10.1038/s41416-023-02503-8, PubMed 38030749 -
A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis
Brain, 146 (8), 3513-3527
DOI 10.1093/brain/awad086, PubMed 36917474 -
Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome
Genes (Basel), 14 (11)
DOI 10.3390/genes14111985, PubMed 38002928 -
Telomere length and verbal learning in bipolar disorders
J Affect Disord, 339, 555-560
DOI 10.1016/j.jad.2023.07.087, PubMed 37459977 -
MRI Assessment of Changes in Tumor Vascularization during Neoadjuvant Anti-Angiogenic Treatment in Locally Advanced Breast Cancer Patients
Cancers (Basel), 15 (18)
DOI 10.3390/cancers15184662, PubMed 37760629 -
The impact of coding germline variants on contralateral breast cancer risk and survival
Am J Hum Genet, 110 (3), 475-486
DOI 10.1016/j.ajhg.2023.02.003, PubMed 36827971 -
Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival
Res Sq
DOI 10.21203/rs.3.rs-2569372/v1, PubMed 36824750 -
Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival
Cancer Med, 12 (15), 16142-16162
DOI 10.1002/cam4.6272, PubMed 37401034 -
Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry
Genome Med, 15 (1), 7
DOI 10.1186/s13073-022-01152-5, PubMed 36703164 -
PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants
NPJ Breast Cancer, 9 (1), 37
DOI 10.1038/s41523-023-00546-x, PubMed 37173335 -
Genetic mechanisms for impaired synaptic plasticity in schizophrenia revealed by computational modelling
bioRxiv
DOI 10.1101/2023.06.14.544920, PubMed 37398070 -
Discovery of 95 PTSD loci provides insight into genetic architecture and neurobiology of trauma and stress-related disorders
medRxiv
DOI 10.1101/2023.08.31.23294915, PubMed 37693460 -
High-throughput screen in vitro identifies dasatinib as a candidate for combinatorial treatment with HER2-targeting drugs in breast cancer
PLoS One, 18 (1), e0280507
DOI 10.1371/journal.pone.0280507, PubMed 36706086 -
Polygenic overlap with body-mass index improves prediction of treatment-resistant schizophrenia
Psychiatry Res, 325, 115217
DOI 10.1016/j.psychres.2023.115217, PubMed 37146461 -
Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality
Nat Commun, 14 (1), 3453
DOI 10.1038/s41467-023-38951-2, PubMed 37301908 -
Publisher Correction: Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality
Nat Commun, 14 (1), 3923
DOI 10.1038/s41467-023-39492-4, PubMed 37400429 -
No impact of prenatal paracetamol and folic acid exposure on cord blood DNA methylation in children with attention-deficit/hyperactivity disorder
Front Genet, 14, 1204879
DOI 10.3389/fgene.2023.1204879, PubMed 37396039 -
Effects of prenatal exposure to (es)citalopram and maternal depression during pregnancy on DNA methylation and child neurodevelopment
Transl Psychiatry, 13 (1), 149
DOI 10.1038/s41398-023-02441-2, PubMed 37147306 -
Transcriptional and functional effects of lithium in bipolar disorder iPSC-derived cortical spheroids
Mol Psychiatry, 28 (7), 3033-3043
DOI 10.1038/s41380-023-01944-0, PubMed 36653674 -
Genetic Overlap Between Global Cortical Brain Structure, C-Reactive Protein, and White Blood Cell Counts
Biol Psychiatry, 95 (1), 62-71
DOI 10.1016/j.biopsych.2023.06.008, PubMed 37348803 -
Psychiatric disorders and brain white matter exhibit genetic overlap implicating developmental and neural cell biology
Mol Psychiatry, 28 (11), 4924-4932
DOI 10.1038/s41380-023-02264-z, PubMed 37759039 -
Decreased serum concentrations of antiseizure medications in children with drug resistant epilepsy following treatment with ketogenic diet
Epilepsia Open, 8 (3), 858-866
DOI 10.1002/epi4.12746, PubMed 37057954 -
Trans-ethnic Polygenic Risk Scores for Body Mass Index: An International Hundred K+ Cohorts Consortium Study
medRxiv
DOI 10.1101/2023.01.17.23284675, PubMed 36712066 -
Alpha-B-Crystallin overexpression is sufficient to promote tumorigenesis and metastasis in mice
Exp Hematol Oncol, 12 (1), 4
DOI 10.1186/s40164-022-00365-z, PubMed 36624493 -
AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature
Mol Genet Genomic Med, 11 (6), e2157
DOI 10.1002/mgg3.2157, PubMed 36860143 -
The X-factor in ART: does the use of assisted reproductive technologies influence DNA methylation on the X chromosome?
Hum Genomics, 17 (1), 35
DOI 10.1186/s40246-023-00484-6, PubMed 37085889 -
Fipronil affects cockroach behavior and olfactory memory
J Exp Biol, 226 (8)
DOI 10.1242/jeb.245239, PubMed 36970762 -
Small extracellular vesicles have distinct CD81 and CD9 tetraspanin expression profiles in plasma from rheumatoid arthritis patients
Clin Exp Med, 23 (6), 2867-2875
DOI 10.1007/s10238-023-01024-1, PubMed 36826611 -
Characterizing the Shared Genetic Underpinnings of Schizophrenia and Cardiovascular Disease Risk Factors
Am J Psychiatry, 180 (11), 815-826
DOI 10.1176/appi.ajp.20220660, PubMed 37752828 -
Clinical Course and Family History of Adult Patient with Novel MYSM1 Variant
J Clin Immunol, 44 (1), 9
DOI 10.1007/s10875-023-01609-1, PubMed 38129711 -
LDL cholesterol targets rarely achieved in familial hypercholesterolemia patients: A sex and gender-specific analysis
Atherosclerosis, 384, 117117
DOI 10.1016/j.atherosclerosis.2023.03.022, PubMed 37080805 -
Functional and molecular characterization of the Atlantic salmon gill epithelium cell line ASG-10; a tool for in vitro gill research
Front Mol Biosci, 10, 1242879
DOI 10.3389/fmolb.2023.1242879, PubMed 37916189 -
The shared genetic risk architecture of neurological and psychiatric disorders: a genome-wide analysis
medRxiv
DOI 10.1101/2023.07.21.23292993, PubMed 37503175 -
Multi-omics approach reveals dysregulated genes during hESCs neuronal differentiation exposure to paracetamol
iScience, 26 (10), 107755
DOI 10.1016/j.isci.2023.107755, PubMed 37731623 -
Biochemical activity induced by a germline variation in KLK3 (PSA) associates with cellular function and clinical outcome in prostate cancer
Res Sq
DOI 10.21203/rs.3.rs-2650312/v1, PubMed 37034758 -
Profiling Cellular Ecosystems at Single-Cell Resolution and at Scale with EcoTyper
Methods Mol Biol, 2629, 43-71
DOI 10.1007/978-1-0716-2986-4_4, PubMed 36929073 -
Shared Genetic Loci Between Schizophrenia and White Blood Cell Counts Suggest Genetically Determined Systemic Immune Abnormalities
Schizophr Bull, 49 (5), 1345-1354
DOI 10.1093/schbul/sbad082, PubMed 37319439 -
Missense mutation Q384K in the APOB gene affecting the large lipid transfer module of apoB reduces the secretion of apoB-100 in the liver without reducing the secretion of apoB-48 in the intestine
J Clin Lipidol, 17 (6), 800-807
DOI 10.1016/j.jacl.2023.08.009, PubMed 37718180 -
Molecular genetic testing and measurement of levels of GPIHBP1 autoantibodies in patients with severe hypertriglyceridemia: The importance of identifying the underlying cause of hypertriglyceridemia
J Clin Lipidol, 18 (1), e80-e89
DOI 10.1016/j.jacl.2023.11.002, PubMed 37981531 -
Functional characterization of missense variants affecting the extracellular domains of ABCA1 using a fluorescence-based assay
J Lipid Res, 65 (1), 100482
DOI 10.1016/j.jlr.2023.100482, PubMed 38052254 -
Shared genetic architecture between irritable bowel syndrome and psychiatric disorders reveals molecular pathways of the gut-brain axis
Genome Med, 15 (1), 60
DOI 10.1186/s13073-023-01212-4, PubMed 37528461 -
Early response evaluation by single cell signaling profiling in acute myeloid leukemia
Nat Commun, 14 (1), 115
DOI 10.1038/s41467-022-35624-4, PubMed 36611026 -
Patients with schizophrenia and bipolar disorder display a similar global gene expression signature in whole blood that reflects elevated proportion of immature neutrophil cells with association to lipid changes
Transl Psychiatry, 13 (1), 147
DOI 10.1038/s41398-023-02442-1, PubMed 37147304 -
An open chat with…Simon Rayner
FEBS Open Bio, 13 (2), 214-216
DOI 10.1002/2211-5463.13543, PubMed 36562681 -
Loss of Cardiac Splicing Regulator RBM20 Is Associated With Early-Onset Atrial Fibrillation
JACC Basic Transl Sci, 9 (2), 163-180
DOI 10.1016/j.jacbts.2023.08.008, PubMed 38510713 -
High-resolution alignment of single-cell and spatial transcriptomes with CytoSPACE
Nat Biotechnol, 41 (11), 1543-1548
DOI 10.1038/s41587-023-01697-9, PubMed 36879008 -
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria
Hum Mol Genet, 32 (4), 580-594
DOI 10.1093/hmg/ddac225, PubMed 36067010 -
Two-locus identity coefficients in pedigrees
G3 (Bethesda), 13 (2)
DOI 10.1093/g3journal/jkac326, PubMed 36525359 -
Long-Term Use of Amoxicillin Is Associated with Changes in Gene Expression and DNA Methylation in Patients with Low Back Pain and Modic Changes
Antibiotics (Basel), 12 (7)
DOI 10.3390/antibiotics12071217, PubMed 37508313 -
Increased muscle activity during sleep and more RBD symptoms in H1N1-(Pandemrix)-vaccinated narcolepsy type 1 patients compared with their non-narcoleptic siblings
Sleep, 46 (3)
DOI 10.1093/sleep/zsac316, PubMed 36562330 -
Transcriptomic pan-cancer analysis using rank-based Bayesian inference
Mol Oncol, 17 (4), 548-563
DOI 10.1002/1878-0261.13354, PubMed 36562628 -
Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants
Nat Genet, 55 (12), 2065-2074
DOI 10.1038/s41588-023-01534-4, PubMed 37945903 -
SOX2 downregulation of PML increases HCMV gene expression and growth of glioma cells
PLoS Pathog, 19 (4), e1011316
DOI 10.1371/journal.ppat.1011316, PubMed 37058447 -
Whole-exome sequencing in moyamoya patients of Northern-European origin identifies gene variants involved in Nitric Oxide metabolism: A pilot study
Brain Spine, 3, 101745
DOI 10.1016/j.bas.2023.101745, PubMed 37383439 -
The impact of placental genomic risk for schizophrenia and birth asphyxia on brain development
Transl Psychiatry, 13 (1), 343
DOI 10.1038/s41398-023-02639-4, PubMed 37938559 -
Using birth-death processes to infer tumor subpopulation structure from live-cell imaging drug screening data
ArXiv
PubMed 37396610 -
A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: application to BRCA1 and BRCA2
Hum Mutat, 2023
DOI 10.1155/2023/9961341, PubMed 38725546 -
Antidepressants escitalopram and venlafaxine up-regulate BDNF promoter IV but down-regulate neurite outgrowth in differentiating SH-SY5Y neurons
Neurochem Int, 169, 105571
DOI 10.1016/j.neuint.2023.105571, PubMed 37451345 -
Variants in the CETP gene affect levels of HDL cholesterol by reducing the amount, and not the specific lipid transfer activity, of secreted CETP
PLoS One, 18 (12), e0294764
DOI 10.1371/journal.pone.0294764, PubMed 38039300 -
Maternal prenatal cholesterol levels predict offspring weight trajectories during childhood in the Norwegian Mother, Father and Child Cohort Study
BMC Med, 21 (1), 43
DOI 10.1186/s12916-023-02742-9, PubMed 36747215 -
Expression of ANK3 moderates the association between childhood trauma and affective traits in severe mental disorders
Sci Rep, 13 (1), 13845
DOI 10.1038/s41598-023-40310-6, PubMed 37620394
Publications 2022
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Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies
Nat Commun, 13 (1), 1822
DOI 10.1038/s41467-022-29280-x, PubMed 35383156 -
Common variants in breast cancer risk loci predispose to distinct tumor subtypes
Breast Cancer Res, 24 (1), 2
DOI 10.1186/s13058-021-01484-x, PubMed 34983606 -
Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy
Brain, 145 (4), 1299-1309
DOI 10.1093/brain/awab391, PubMed 34633442 -
Derivation and Molecular Characterization of a Morphological Subpopulation of Human iPSC Astrocytes Reveal a Potential Role in Schizophrenia and Clozapine Response
Schizophr Bull, 48 (1), 190-198
DOI 10.1093/schbul/sbab092, PubMed 34357384 -
Dissecting the shared genetic basis of migraine and mental disorders using novel statistical tools
Brain, 145 (1), 142-153
DOI 10.1093/brain/awab267, PubMed 34273149 -
Noncoding RNAs in oral cancer
Wiley Interdiscip Rev RNA, 14 (3), e1754
DOI 10.1002/wrna.1754, PubMed 35959932 -
Telomeres are shorter and associated with number of suicide attempts in affective disorders
J. Affect. Disord., 297, 1032-1039
DOI 10.1016/j.jad.2021.08.135 -
Subtype and cell type specific expression of lncRNAs provide insight into breast cancer
Commun Biol, 5 (1), 834
DOI 10.1038/s42003-022-03559-7, PubMed 35982125 -
Inhibitory Control and the Structural Parcelation of the Right Inferior Frontal Gyrus
Front Hum Neurosci, 16, 787079
DOI 10.3389/fnhum.2022.787079, PubMed 35280211 -
Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes
JAMA Oncol, 8 (3), e216744
DOI 10.1001/jamaoncol.2021.6744, PubMed 35084436 -
Cis-regulatory mutations associate with transcriptional and post-transcriptional deregulation of gene regulatory programs in cancers
Nucleic Acids Res, 50 (21), 12131-12148
DOI 10.1093/nar/gkac1143, PubMed 36477895 -
JASPAR 2022: the 9th release of the open-access database of transcription factor binding profiles
Nucleic Acids Res, 50 (D1), D165-D173
DOI 10.1093/nar/gkab1113, PubMed 34850907 -
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum
J Med Genet, 60 (6), 620-626
DOI 10.1136/jmg-2022-108678, PubMed 36368868 -
Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci
Breast Cancer Res, 24 (1), 27
DOI 10.1186/s13058-022-01524-0, PubMed 35414113 -
Shared genetic architecture between schizophrenia and subcortical brain volumes implicates early neurodevelopmental processes and brain development in childhood
Mol Psychiatry, 27 (12), 5167-5176
DOI 10.1038/s41380-022-01751-z, PubMed 36100668 -
DNA methylation episignature in Gabriele-de Vries syndrome
Genet Med, 24 (4), 905-914
DOI 10.1016/j.gim.2021.12.003, PubMed 35027293 -
Neonatal interstitial lung disease in a girl with Jacobsen syndrome: a case report
J Med Case Rep, 16 (1), 117
DOI 10.1186/s13256-022-03351-5, PubMed 35321730 -
Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays
Blood, 140 (2), 140-151
DOI 10.1182/blood.2021014708, PubMed 35486842 -
Rare germline copy number variants (CNVs) and breast cancer risk
Commun Biol, 5 (1), 65
DOI 10.1038/s42003-021-02990-6, PubMed 35042965 -
Gene Expression in Embryos From Norwegian Red Bulls With High or Low Non Return Rate: An RNA-Seq Study of in vivo-Produced Single Embryos
Front Genet, 12, 780113
DOI 10.3389/fgene.2021.780113, PubMed 35096004 -
Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study
Br J Sports Med, 56 (20), 1157-1170
DOI 10.1136/bjsports-2021-105132, PubMed 36328784 -
Breast cancer risks associated with missense variants in breast cancer susceptibility genes
Genome Med, 14 (1), 51
DOI 10.1186/s13073-022-01052-8, PubMed 35585550 -
Composite immune marker scores associated with severe mental disorders and illness course
Brain Behav Immun Health, 24, 100483
DOI 10.1016/j.bbih.2022.100483, PubMed 35856063 -
Plasma Levels of the Cytokines B Cell-Activating Factor (BAFF) and A Proliferation-Inducing Ligand (APRIL) in Schizophrenia, Bipolar, and Major Depressive Disorder: A Cross Sectional, Multisite Study
Schizophr Bull, 48 (1), 37-46
DOI 10.1093/schbul/sbab106, PubMed 34499169 -
A novel homozygous variant in the SPG7 gene presenting with childhood optic nerve atrophy
Am J Ophthalmol Case Rep, 26, 101400
DOI 10.1016/j.ajoc.2022.101400, PubMed 35243150 -
Genetics of multiple sclerosis: lessons from polygenicity
Lancet Neurol, 21 (9), 830-842
DOI 10.1016/S1474-4422(22)00255-1, PubMed 35963264 -
A family study of symbolic learning and synaptic plasticity in autism spectrum disorder
Front Hum Neurosci, 16, 950922
DOI 10.3389/fnhum.2022.950922, PubMed 36504626 -
Tetraploid Ancestry Provided Atlantic Salmon With Two Paralogue Functional T Cell Receptor Beta Regions Whereof One Is Completely Novel
Front Immunol, 13, 930312
DOI 10.3389/fimmu.2022.930312, PubMed 35784332 -
Incorporating progesterone receptor expression into the PREDICT breast prognostic model
Eur J Cancer, 173, 178-193
DOI 10.1016/j.ejca.2022.06.011, PubMed 35933885 -
Genetic association study in myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) identifies several potential risk loci
Brain Behav Immun, 102, 362-369
DOI 10.1016/j.bbi.2022.03.010, PubMed 35318112 -
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data
Am J Med Genet A, 188 (10), 2958-2968
DOI 10.1002/ajmg.a.62919, PubMed 35904974 -
Allele imputation for the killer cell immunoglobulin-like receptor KIR3DL1/S1
PLoS Comput Biol, 18 (2), e1009059
DOI 10.1371/journal.pcbi.1009059, PubMed 35192601 -
APOE-ε4 Is Associated With Reduced Verbal Memory Performance and Higher Emotional, Cognitive, and Everyday Executive Function Symptoms Two Months After Mild Traumatic Brain Injury
Front Neurol, 13, 735206
DOI 10.3389/fneur.2022.735206, PubMed 35250800 -
Charting the Landscape of Genetic Overlap Between Mental Disorders and Related Traits Beyond Genetic Correlation
Am J Psychiatry, 179 (11), 833-843
DOI 10.1176/appi.ajp.21101051, PubMed 36069018 -
The shared genetic basis of mood instability and psychiatric disorders: A cross-trait genome-wide association analysis
Am J Med Genet B Neuropsychiatr Genet, 189 (6), 207-218
DOI 10.1002/ajmg.b.32907, PubMed 35841185 -
Interleukin-18 signaling system links to agitation in severe mental disorders
Psychoneuroendocrinology, 140, 105721
DOI 10.1016/j.psyneuen.2022.105721, PubMed 35301151 -
Mapping the expression of an ANK3 isoform associated with bipolar disorder in the human brain
Transl Psychiatry, 12 (1), 45
DOI 10.1038/s41398-022-01784-6, PubMed 35091539 -
The risk of various types of cardiovascular diseases in mutation positive familial hypercholesterolemia; a review
Front Genet, 13, 1072108
DOI 10.3389/fgene.2022.1072108, PubMed 36561318 -
BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories
Fam Cancer, 21 (4), 389-398
DOI 10.1007/s10689-021-00286-6, PubMed 34981296 -
Prostate cancer risk stratification improvement across multiple ancestries with new polygenic hazard score
Prostate Cancer Prostatic Dis, 25 (4), 755-761
DOI 10.1038/s41391-022-00497-7, PubMed 35152271 -
Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation
BMC Neurol, 22 (1), 299
DOI 10.1186/s12883-022-02828-6, PubMed 35971119 -
DNA methylation in newborns conceived by assisted reproductive technology
Nat Commun, 13 (1), 1896
DOI 10.1038/s41467-022-29540-w, PubMed 35393427 -
Genetic overlap between mood instability and alcohol-related phenotypes suggests shared biological underpinnings
Neuropsychopharmacology, 47 (11), 1883-1891
DOI 10.1038/s41386-022-01401-6, PubMed 35953530 -
Genome-wide meta-analysis for Alzheimer's disease cerebrospinal fluid biomarkers
Acta Neuropathol, 144 (5), 821-842
DOI 10.1007/s00401-022-02454-z, PubMed 36066633 -
Correction to: Attitudes among parents of persons with autism spectrum disorder towards information about genetic risk and future health
Eur J Hum Genet, 30 (10), 1198
DOI 10.1038/s41431-021-01021-6, PubMed 34903869 -
Maternal prenatal depressive symptoms and toddler behavior: an umbilical cord blood epigenome-wide association study
Transl Psychiatry, 12 (1), 186
DOI 10.1038/s41398-022-01954-6, PubMed 35513368 -
The influence of HLA genotype on the development of metal hypersensitivity following joint replacement
Commun Med (Lond), 2, 73
DOI 10.1038/s43856-022-00137-0, PubMed 35761834 -
Erratum: Author Correction: The influence of HLA genotype on the development of metal hypersensitivity following joint replacement
Commun Med (Lond), 2, 91
DOI 10.1038/s43856-022-00158-9, PubMed 35856082 -
Pioneer transcription factors are associated with the modulation of DNA methylation patterns across cancers
Epigenetics Chromatin, 15 (1), 13
DOI 10.1186/s13072-022-00444-9, PubMed 35440061 -
Cascade screening for familial hypercholesterolemia should be organized at a national level
Curr Opin Lipidol, 33 (4), 231-236
DOI 10.1097/MOL.0000000000000832, PubMed 35942821 -
Identification of Novel Loci Shared by Juvenile Idiopathic Arthritis Subtypes Through Integrative Genetic Analysis
Arthritis Rheumatol, 74 (8), 1420-1429
DOI 10.1002/art.42129, PubMed 35347896 -
A regulatory network comprising let-7 miRNA and SMUG1 is associated with good prognosis in ER+ breast tumours
Nucleic Acids Res, 50 (18), 10449-10468
DOI 10.1093/nar/gkac807, PubMed 36156150 -
A phase I/II escalation trial design T-RAD: Treatment of metastatic lung cancer with mRNA-engineered T cells expressing a T cell receptor targeting human telomerase reverse transcriptase (hTERT)
Front Oncol, 12, 1031232
DOI 10.3389/fonc.2022.1031232, PubMed 36439452 -
What characterizes event-free elderly FH patients? A comprehensive lipoprotein profiling
Nutr Metab Cardiovasc Dis, 32 (7), 1651-1660
DOI 10.1016/j.numecd.2022.03.028, PubMed 35527125 -
The risks of cancer in older women with BRCA pathogenic variants: How far have we come?
Cancer, 129 (6), 901-907
DOI 10.1002/cncr.34615, PubMed 36571512 -
Quantification of Tumor Hypoxia through Unsupervised Modelling of Consumption and Supply Hypoxia MR Imaging in Breast Cancer
Cancers (Basel), 14 (5)
DOI 10.3390/cancers14051326, PubMed 35267636 -
Using Polygenic Hazard Scores to Predict Age at Onset of Alzheimer's Disease in Nordic Populations
J Alzheimers Dis, 88 (4), 1533-1544
DOI 10.3233/JAD-220174, PubMed 35848024 -
Increased risk of peripheral artery disease in persons with familial hypercholesterolaemia: a prospective registry study
Eur J Prev Cardiol, 28 (18), e11-e13
DOI 10.1093/eurjpc/zwaa024, PubMed 33623989 -
Association of Familial Hypercholesterolemia and Statin Use With Risk of Dementia in Norway
JAMA Netw Open, 5 (4), e227715
DOI 10.1001/jamanetworkopen.2022.7715, PubMed 35438756 -
miR-101-5p Acts as a Tumor Suppressor in HER2-Positive Breast Cancer Cells and Improves Targeted Therapy
Breast Cancer (Dove Med Press), 14, 25-39
DOI 10.2147/BCTT.S338404, PubMed 35256859 -
Modeling dependency structures in 450k DNA methylation data
Bioinformatics, 38 (4), 885-891
DOI 10.1093/bioinformatics/btab774, PubMed 34788815 -
Low reliability of DNA methylation across Illumina Infinium platforms in cord blood: implications for replication studies and meta-analyses of prenatal exposures
Clin Epigenetics, 14 (1), 80
DOI 10.1186/s13148-022-01299-3, PubMed 35765087 -
DNA methylation changes in response to neoadjuvant chemotherapy are associated with breast cancer survival
Breast Cancer Res, 24 (1), 43
DOI 10.1186/s13058-022-01537-9, PubMed 35751095 -
Genome-wide decrease in DNA methylation in adults with epilepsy treated with modified ketogenic diet: A prospective study
Epilepsia, 63 (9), 2413-2426
DOI 10.1111/epi.17351, PubMed 35762681 -
Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5
Front Cell Dev Biol, 10, 783762
DOI 10.3389/fcell.2022.783762, PubMed 35295849 -
The use of segregation analysis in interpretation of sequence variants in SMAD3: A case report
Mol Genet Genomic Med, 11 (2), e2107
DOI 10.1002/mgg3.2107, PubMed 36495030 -
Optimization of enzymatic fragmentation is crucial to maximize genome coverage: a comparison of library preparation methods for Illumina sequencing
BMC Genomics, 23 (1), 92
DOI 10.1186/s12864-022-08316-y, PubMed 35105301 -
Expanding the phenotypic spectrum of ARCN1-related syndrome
Genet Med, 24 (6), 1227-1237
DOI 10.1016/j.gim.2022.02.005, PubMed 35300924 -
Timing of cardioverter-defibrillator implantation in patients with cardiac laminopathies-External validation of the LMNA-risk ventricular tachyarrhythmia calculator
Heart Rhythm, 20 (3), 423-429
DOI 10.1016/j.hrthm.2022.11.024, PubMed 36494026 -
Phenotypic expansion of ARSK-related mucopolysaccharidosis
Am J Med Genet A, 188 (11), 3369-3373
DOI 10.1002/ajmg.a.62934, PubMed 35959767 -
A woman in her fifties with chronic muscle weakness
Tidsskr Nor Laegeforen, 142 (1)
DOI 10.4045/tidsskr.21.0038, PubMed 35026081 -
[Correction: A woman in her fifties with chronic muscle weakness]
Tidsskr Nor Laegeforen, 142 (2)
DOI 10.4045/tidsskr.22.0032, PubMed 35107936 -
Multiomics analysis of rheumatoid arthritis yields sequence variants that have large effects on risk of the seropositive subset
Ann Rheum Dis, 81 (8), 1085-1095
DOI 10.1136/annrheumdis-2021-221754, PubMed 35470158 -
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals
Genet Med, 25 (1), 90-102
DOI 10.1016/j.gim.2022.09.010, PubMed 36318270 -
Robust neuronal differentiation of human embryonic stem cells for neurotoxicology
STAR Protoc, 3 (3), 101533
DOI 10.1016/j.xpro.2022.101533, PubMed 36123835 -
A multi-omics approach to visualize early neuronal differentiation from hESCs in 4D
iScience, 25 (11), 105279
DOI 10.1016/j.isci.2022.105279, PubMed 36304110 -
Markers of extracellular matrix remodeling and systemic inflammation in patients with heritable thoracic aortic diseases
Front Cardiovasc Med, 9, 1073069
DOI 10.3389/fcvm.2022.1073069, PubMed 36606286 -
Systemic Cell Adhesion Molecules in Severe Mental Illness: Potential Role of Intercellular CAM-1 in Linking Peripheral and Neuroinflammation
Biol Psychiatry, 93 (2), 187-196
DOI 10.1016/j.biopsych.2022.06.029, PubMed 36182530 -
Vitamin D in Alzheimer's Disease: Low Levels in Cerebrospinal Fluid Despite Normal Amounts in Serum
J Alzheimers Dis, 86 (3), 1301-1314
DOI 10.3233/JAD-215536, PubMed 35180126 -
A family with cytotoxic T-lymphocyte-associated protein 4 haploinsufficiency presenting with aplastic anaemia
BMJ Case Rep, 15 (2)
DOI 10.1136/bcr-2021-247653, PubMed 35228238 -
Molecular genetics in 4408 cardiomyopathy probands and 3008 relatives in Norway: 17 years of genetic testing in a national laboratory
Eur J Prev Cardiol, 29 (13), 1789-1799
DOI 10.1093/eurjpc/zwac102, PubMed 35653365 -
"It was an important part of my treatment": a qualitative study of Norwegian breast Cancer patients' experiences with mainstreamed genetic testing
Hered Cancer Clin Pract, 20 (1), 6
DOI 10.1186/s13053-022-00212-6, PubMed 35123550 -
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences
Brain, 145 (7), 2602-2616
DOI 10.1093/brain/awac034, PubMed 35104841 -
Risk of stroke in genetically verified familial hypercholesterolemia: A prospective matched cohort study
Atherosclerosis, 358, 34-40
DOI 10.1016/j.atherosclerosis.2022.08.015, PubMed 36084445 -
High levels of lipoprotein(a) - assessment and treatment
Tidsskr Nor Laegeforen, 142 (1)
DOI 10.4045/tidsskr.21.0800, PubMed 36655975 -
Inflammation and cognition in severe mental illness: patterns of covariation and subgroups
Mol Psychiatry, 28 (3), 1284-1292
DOI 10.1038/s41380-022-01924-w, PubMed 36577840 -
Kinase activity profiling in renal cell carcinoma, benign renal tissue and in response to four different tyrosine kinase inhibitors
Oncotarget, 13, 970-981
DOI 10.18632/oncotarget.28257, PubMed 36093296 -
Serglycin Is Involved in TGF-β Induced Epithelial-Mesenchymal Transition and Is Highly Expressed by Immune Cells in Breast Cancer Tissue
Front Oncol, 12, 868868
DOI 10.3389/fonc.2022.868868, PubMed 35494005 -
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis
Hum Genet, 142 (1), 21-32
DOI 10.1007/s00439-022-02477-2, PubMed 35997807 -
Shared genetic loci between depression and cardiometabolic traits
PLoS Genet, 18 (5), e1010161
DOI 10.1371/journal.pgen.1010161, PubMed 35560157 -
Mapping genomic loci implicates genes and synaptic biology in schizophrenia
Nature, 604 (7906), 502-508
DOI 10.1038/s41586-022-04434-5, PubMed 35396580 -
Whole-exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathways
Am J Med Genet A, 188 (5), 1464-1475
DOI 10.1002/ajmg.a.62663, PubMed 35080095 -
No replication of previously reported association with genetic variants in the T cell receptor alpha (TRA) locus for myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS)
Transl Psychiatry, 12 (1), 277
DOI 10.1038/s41398-022-02046-1, PubMed 35821115 -
Serum RNAs can predict lung cancer up to 10 years prior to diagnosis
Elife, 11
DOI 10.7554/eLife.71035, PubMed 35147498 -
Whole-Exome Sequencing Implicates Neuronal Calcium Channel with Familial Atrial Fibrillation
Front Genet, 13, 806429
DOI 10.3389/fgene.2022.806429, PubMed 35154276 -
The link between liver fat and cardiometabolic diseases is highlighted by genome-wide association study of MRI-derived measures of body composition
Commun Biol, 5 (1), 1271
DOI 10.1038/s42003-022-04237-4, PubMed 36402844 -
Boosting Schizophrenia Genetics by Utilizing Genetic Overlap With Brain Morphology
Biol Psychiatry, 92 (4), 291-298
DOI 10.1016/j.biopsych.2021.12.007, PubMed 35164939 -
Globally Accessible Distributed Data Sharing (GADDS): a decentralized FAIR platform to facilitate data sharing in the life sciences
Bioinformatics, 38 (15), 3812-3817
DOI 10.1093/bioinformatics/btac362, PubMed 35639939 -
QuickPed: an online tool for drawing pedigrees and analysing relatedness
BMC Bioinformatics, 23 (1), 220
DOI 10.1186/s12859-022-04759-y, PubMed 35672681 -
Correlation between gene expression and MRI STIR signals in patients with chronic low back pain and Modic changes indicates immune involvement
Sci Rep, 12 (1), 215
DOI 10.1038/s41598-021-04189-5, PubMed 34997115 -
Pancreas Whole Tissue Transcriptomics Highlights the Role of the Exocrine Pancreas in Patients With Recently Diagnosed Type 1 Diabetes
Front Endocrinol (Lausanne), 13, 861985
DOI 10.3389/fendo.2022.861985, PubMed 35498413 -
Loss-of-function variants in the schizophrenia risk gene SETD1A alter neuronal network activity in human neurons through the cAMP/PKA pathway
Cell Rep, 39 (5), 110790
DOI 10.1016/j.celrep.2022.110790, PubMed 35508131 -
Immune marker levels in severe mental disorders: associations with polygenic risk scores of related mental phenotypes and psoriasis
Transl Psychiatry, 12 (1), 38
DOI 10.1038/s41398-022-01811-6, PubMed 35082268 -
Limited association between infections, autoimmune disease and genetic risk and immune activation in severe mental disorders
Prog Neuropsychopharmacol Biol Psychiatry, 116, 110511
DOI 10.1016/j.pnpbp.2022.110511, PubMed 35063598 -
Author Correction: A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer's disease
Nat Genet, 54 (7), 1062
DOI 10.1038/s41588-022-01126-8, PubMed 35726068 -
Multimodal monitoring of human cortical organoids implanted in mice reveal functional connection with visual cortex
Nat Commun, 13 (1), 7945
DOI 10.1038/s41467-022-35536-3, PubMed 36572698 -
Exposure to a human relevant mixture of persistent organic pollutants or to perfluorooctane sulfonic acid alone dysregulates the developing cerebellum of chicken embryo
Environ Int, 166, 107379
DOI 10.1016/j.envint.2022.107379, PubMed 35792514 -
A saturated map of common genetic variants associated with human height
Nature, 610 (7933), 704-712
DOI 10.1038/s41586-022-05275-y, PubMed 36224396 -
Genetic Characterization in High-Risk Individuals from a Low-Resource City of Peru
Cancers (Basel), 14 (22)
DOI 10.3390/cancers14225603, PubMed 36428697 -
A congenital CMV infection model for follow-up studies of neurodevelopmental disorders, neuroimaging abnormalities, and treatment
JCI Insight, 7 (1)
DOI 10.1172/jci.insight.152551, PubMed 35014624
Publications 2021
-
Transcriptome analysis reveals disparate expression of inflammation-related miRNAs and their gene targets in iPSC-astrocytes from people with schizophrenia
Brain Behav Immun, 94, 235-244
DOI 10.1016/j.bbi.2021.01.037, PubMed 33571628 -
[The laboratory is the heart of the health services]
Tidsskr Nor Laegeforen, 141 (9)
DOI 10.4045/tidsskr.21.0439, PubMed 34107648 -
T cells targeted to TdT kill leukemic lymphoblasts while sparing normal lymphocytes
Nat Biotechnol, 40 (4), 488-498
DOI 10.1038/s41587-021-01089-x, PubMed 34873326 -
Molecular Characterization of Two Homozygous Factor VII Variants Associated with Intracranial Bleeding
Thromb Haemost, 121 (12), 1588-1598
DOI 10.1055/a-1450-8568, PubMed 33742435 -
Lower circulating neuron-specific enolase concentrations in adults and adolescents with severe mental illness
Psychol Med, 53 (4), 1479-1488
DOI 10.1017/S0033291721003056, PubMed 35387700 -
Coagulation Factor V (F5) is an Estrogen-Responsive Gene in Breast Cancer Cells
Thromb Haemost, 122 (8), 1288-1295
DOI 10.1055/a-1707-2130, PubMed 34826880 -
Crosstalk between microRNA expression and DNA methylation drives the hormone-dependent phenotype of breast cancer
Genome Med, 13 (1), 72
DOI 10.1186/s13073-021-00880-4, PubMed 33926515 -
Genetic loci shared between major depression and intelligence with mixed directions of effect
Nat Hum Behav, 5 (6), 795-801
DOI 10.1038/s41562-020-01031-2, PubMed 33462475 -
A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study
Lancet Oncol, 22 (11), 1618-1631
DOI 10.1016/S1470-2045(21)00522-2, PubMed 34678156 -
Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element
Am J Hum Genet, 108 (7), 1190-1203
DOI 10.1016/j.ajhg.2021.05.013, PubMed 34146516 -
miRNA normalization enables joint analysis of several datasets to increase sensitivity and to reveal novel miRNAs differentially expressed in breast cancer
PLoS Comput Biol, 17 (2), e1008608
DOI 10.1371/journal.pcbi.1008608, PubMed 33566819 -
Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith-Wiedemann spectrum features
Cold Spring Harb Mol Case Stud, 7 (6)
DOI 10.1101/mcs.a006113, PubMed 34615670 -
Telomeres are shorter and associated with number of suicide attempts in affective disorders
J Affect Disord, 295, 1032-1039
DOI 10.1016/j.jad.2021.08.135, PubMed 34706411 -
Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders
Biol Psychiatry, 91 (1), 102-117
DOI 10.1016/j.biopsych.2021.02.972, PubMed 34099189 -
Genetic Association Between Schizophrenia and Cortical Brain Surface Area and Thickness
JAMA Psychiatry, 78 (9), 1020-1030
DOI 10.1001/jamapsychiatry.2021.1435, PubMed 34160554 -
Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction
Nat Genet, 53 (1), 65-75
DOI 10.1038/s41588-020-00748-0, PubMed 33398198 -
Publisher Correction: Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction
Nat Genet, 53 (3), 413
DOI 10.1038/s41588-021-00786-2, PubMed 33473200 -
Next-Generation Sequencing Identifies Extended HLA Class I and II Haplotypes Associated With Early-Onset and Late-Onset Myasthenia Gravis in Italian, Norwegian, and Swedish Populations
Front Immunol, 12, 667336
DOI 10.3389/fimmu.2021.667336, PubMed 34163474 -
Tissue factor pathway inhibitor upregulates CXCR7 expression and enhances CXCL12-mediated migration in chronic lymphocytic leukemia
Sci Rep, 11 (1), 5127
DOI 10.1038/s41598-021-84695-8, PubMed 33664415 -
Common variants in Alzheimer's disease and risk stratification by polygenic risk scores
Nat Commun, 12 (1), 3417
DOI 10.1038/s41467-021-22491-8, PubMed 34099642 -
Genome-wide association identifies the first risk loci for psychosis in Alzheimer disease
Mol Psychiatry, 26 (10), 5797-5811
DOI 10.1038/s41380-021-01152-8, PubMed 34112972 -
Wavelet Screening identifies regions highly enriched for differentially methylated loci for orofacial clefts
NAR Genom Bioinform, 3 (2), lqab035
DOI 10.1093/nargab/lqab035, PubMed 33987535 -
Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis
Sci Rep, 11 (1), 19787
DOI 10.1038/s41598-021-99409-3, PubMed 34611289 -
Treatment of Homozygous Type II Antithrombin Heparin-Binding Site Deficiency in Pregnancy
Case Rep Obstet Gynecol, 2021, 4393821
DOI 10.1155/2021/4393821, PubMed 34513101 -
Genetic variants associated with cardiometabolic abnormalities during treatment with selective serotonin reuptake inhibitors: a genome-wide association study
Pharmacogenomics J, 21 (5), 574-585
DOI 10.1038/s41397-021-00234-8, PubMed 33824429 -
A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome
Hum Mol Genet, 30 (21), 1919-1931
DOI 10.1093/hmg/ddab144, PubMed 34124757 -
Ruptured Aneurysm of the Anterior Communicating Artery in a Newborn: A Case Report and Review of the Literature
J Neurol Surg A Cent Eur Neurosurg, 84 (4), 399-403
DOI 10.1055/s-0041-1739209, PubMed 34897611 -
Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries
Atherosclerosis, 319, 108-117
DOI 10.1016/j.atherosclerosis.2021.01.008, PubMed 33508743 -
Polymorphisms in the TP53-MDM2-MDM4-axis in patients with rheumatoid arthritis
Gene, 793, 145747
DOI 10.1016/j.gene.2021.145747, PubMed 34077778 -
AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis
Nucleic Acids Res, 49 (W1), W21-W28
DOI 10.1093/nar/gkab402, PubMed 34023905 -
Macrophage migration inhibitory factor: a potential biomarker for chronic low back pain in patients with Modic changes
RMD Open, 7 (2)
DOI 10.1136/rmdopen-2021-001726, PubMed 34344830 -
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Am J Med Genet A, 185 (5), 1366-1378
DOI 10.1002/ajmg.a.62102, PubMed 33522091 -
Methotrexate Treatment of Newly Diagnosed RA Patients Is Associated With DNA Methylation Differences at Genes Relevant for Disease Pathogenesis and Pharmacological Action
Front Immunol, 12, 713611
DOI 10.3389/fimmu.2021.713611, PubMed 34867944 -
Climate change and epilepsy: Insights from clinical and basic science studies
Epilepsy Behav, 116, 107791
DOI 10.1016/j.yebeh.2021.107791, PubMed 33578223 -
Population-based body-brain mapping links brain morphology with anthropometrics and body composition
Transl Psychiatry, 11 (1), 295
DOI 10.1038/s41398-021-01414-7, PubMed 34006848 -
An EPIC predictor of gestational age and its application to newborns conceived by assisted reproductive technologies
Clin Epigenetics, 13 (1), 82
DOI 10.1186/s13148-021-01055-z, PubMed 33875015 -
Fine mapping of the major histocompatibility complex (MHC) in myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) suggests involvement of both HLA class I and class II loci
Brain Behav Immun, 98, 101-109
DOI 10.1016/j.bbi.2021.08.219, PubMed 34403736 -
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
Genet Med, 23 (6), 1028-1040
DOI 10.1038/s41436-021-01114-z, PubMed 33658631 -
MicroRNA Expression Differences in Blood-Derived CD19+ B Cells of Methotrexate Treated Rheumatoid Arthritis Patients
Front Immunol, 12, 663736
DOI 10.3389/fimmu.2021.663736, PubMed 33897713 -
Apolipoprotein ɛ4 Status and Brain Structure 12 Months after Mild Traumatic Injury: Brain Age Prediction Using Brain Morphometry and Diffusion Tensor Imaging
J Clin Med, 10 (3)
DOI 10.3390/jcm10030418, PubMed 33499167 -
Loss-of-function mutation in IKZF2 leads to immunodeficiency with dysregulated germinal center reactions and reduction of MAIT cells
Sci Immunol, 6 (65), eabe3454
DOI 10.1126/sciimmunol.abe3454, PubMed 34826260 -
Characterising the shared genetic determinants of bipolar disorder, schizophrenia and risk-taking
Transl Psychiatry, 11 (1), 466
DOI 10.1038/s41398-021-01576-4, PubMed 34497263 -
Polygenic hazard score is associated with prostate cancer in multi-ethnic populations
Nat Commun, 12 (1), 1236
DOI 10.1038/s41467-021-21287-0, PubMed 33623038 -
Attitudes among parents of persons with autism spectrum disorder towards information about genetic risk and future health
Eur J Hum Genet, 30 (10), 1138-1146
DOI 10.1038/s41431-021-00966-y, PubMed 34776508 -
A possible role for HLA-G in development of uteroplacental acute atherosis in preeclampsia
J Reprod Immunol, 144, 103284
DOI 10.1016/j.jri.2021.103284, PubMed 33578175 -
CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers
Br J Cancer, 124 (4), 842-854
DOI 10.1038/s41416-020-01185-w, PubMed 33495599 -
A Nationwide Study of GATA2 Deficiency in Norway-the Majority of Patients Have Undergone Allo-HSCT
J Clin Immunol, 42 (2), 404-420
DOI 10.1007/s10875-021-01189-y, PubMed 34893945 -
Sex-biased dynamics of three-spined stickleback (Gasterosteus aculeatus) gene expression patterns
Genomics, 114 (1), 266-277
DOI 10.1016/j.ygeno.2021.12.010, PubMed 34933072 -
DNA methylation in cord blood in association with prenatal depressive symptoms
Clin Epigenetics, 13 (1), 78
DOI 10.1186/s13148-021-01054-0, PubMed 33845866 -
Characterisation of age and polarity at onset in bipolar disorder
Br J Psychiatry, 219 (6), 659-669
DOI 10.1192/bjp.2021.102, PubMed 35048876 -
Additional SNPs improve risk stratification of a polygenic hazard score for prostate cancer
Prostate Cancer Prostatic Dis, 24 (2), 532-541
DOI 10.1038/s41391-020-00311-2, PubMed 33420416 -
Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction
J Allergy Clin Immunol, 148 (2), 599-611
DOI 10.1016/j.jaci.2020.12.656, PubMed 33662367 -
BiasAway: command-line and web server to generate nucleotide composition-matched DNA background sequences
Bioinformatics, 37 (11), 1607-1609
DOI 10.1093/bioinformatics/btaa928, PubMed 33135764 -
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
Nat Commun, 12 (1), 2558
DOI 10.1038/s41467-021-22627-w, PubMed 33963192 -
Dose-dependent transcriptional effects of lithium and adverse effect burden in a psychiatric cohort
Prog Neuropsychopharmacol Biol Psychiatry, 112, 110408
DOI 10.1016/j.pnpbp.2021.110408, PubMed 34320404 -
The CRCbiome study: a large prospective cohort study examining the role of lifestyle and the gut microbiome in colorectal cancer screening participants
BMC Cancer, 21 (1), 930
DOI 10.1186/s12885-021-08640-8, PubMed 34407780 -
Identifying nootropic drug targets via large-scale cognitive GWAS and transcriptomics
Neuropsychopharmacology, 46 (10), 1788-1801
DOI 10.1038/s41386-021-01023-4, PubMed 34035472 -
Molecular genetic testing for autosomal dominant hypercholesterolemia in 29,449 Norwegian index patients and 14,230 relatives during the years 1993-2020
Atherosclerosis, 322, 61-66
DOI 10.1016/j.atherosclerosis.2021.02.022, PubMed 33740630 -
The importance of cascade genetic screening for diagnosing autosomal dominant hypercholesterolemia: Results from twenty years of a national screening program in Norway
J Clin Lipidol, 15 (5), 674-681
DOI 10.1016/j.jacl.2021.08.007, PubMed 34479846 -
Assessing heterogeneity in spatial data using the HTA index with applications to spatial transcriptomics and imaging
Bioinformatics, 37 (21), 3796-3804
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Erratum to: Assessing heterogeneity in spatial data using the HTA index with applications to spatial transcriptomics and imaging
Bioinformatics, 37 (22), 4296
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OBITUARY Erik Thorsby (1938-2021)
HLA, 98 (1), 3-4
DOI 10.1111/tan.14290 -
Rapid SARS-CoV-2 variant monitoring using PCR confirmed by whole genome sequencing in a high-volume diagnostic laboratory
J Clin Virol, 141, 104906
DOI 10.1016/j.jcv.2021.104906, PubMed 34273860 -
Lessons Learned From Neuroimaging Studies of Copy Number Variants: A Systematic Review
Biol Psychiatry, 90 (9), 596-610
DOI 10.1016/j.biopsych.2021.05.028, PubMed 34509290 -
Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment
Breast Cancer Res, 23 (1), 86
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Breast Cancer Risk Factors and Survival by Tumor Subtype: Pooled Analyses from the Breast Cancer Association Consortium
Cancer Epidemiol Biomarkers Prev, 30 (4), 623-642
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Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology
Nat Genet, 53 (6), 817-829
DOI 10.1038/s41588-021-00857-4, PubMed 34002096 -
Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors
Biol Psychiatry, 91 (3), 313-327
DOI 10.1016/j.biopsych.2021.05.029, PubMed 34861974 -
Excess Aortic Pathology Risk in Patients with Genetically Verified Familial Hypercholesterolaemia: A Prospective Norwegian Registry Study
Eur J Vasc Endovasc Surg, 61 (4), 712-713
DOI 10.1016/j.ejvs.2020.12.019, PubMed 33485759 -
Characterizing the Genetic Overlap Between Psychiatric Disorders and Sleep-Related Phenotypes
Biol Psychiatry, 90 (9), 621-631
DOI 10.1016/j.biopsych.2021.07.007, PubMed 34482950 -
Association between complement component 4A expression, cognitive performance and brain imaging measures in UK Biobank
Psychol Med, 52 (15), 1-11 (in press)
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Lithium increases mitochondrial respiration in iPSC-derived neural precursor cells from lithium responders
Mol Psychiatry, 26 (11), 6789-6805
DOI 10.1038/s41380-021-01164-4, PubMed 34075196 -
Mendelian randomisation study of smoking exposure in relation to breast cancer risk
Br J Cancer, 125 (8), 1135-1145
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Gene-Environment Interactions Relevant to Estrogen and Risk of Breast Cancer: Can Gene-Environment Interactions Be Detected Only among Candidate SNPs from Genome-Wide Association Studies?
Cancers (Basel), 13 (10)
DOI 10.3390/cancers13102370, PubMed 34069208 -
WHAT DO WE WANT WITH THE FETAL DIAGNOSIS? Ethics of fetal diagnostics
Tidsskr. Nor. Laegeforen., 141 (12), 1217 -
Vitamin D status and pathway genes in five European autoimmune Addison's disease cohorts
Eur J Endocrinol, 184 (3), 373-381
DOI 10.1530/EJE-20-0956, PubMed 33444227 -
Health-related quality of life in Norwegian adults with Fabry disease: Disease severity, pain, fatigue and psychological distress
JIMD Rep, 62 (1), 56-69
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Identification of pleiotropy at the gene level between psychiatric disorders and related traits
Transl Psychiatry, 11 (1), 410
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UniBind: maps of high-confidence direct TF-DNA interactions across nine species
BMC Genomics, 22 (1), 482
DOI 10.1186/s12864-021-07760-6, PubMed 34174819 -
All-Optical Electrophysiology in hiPSC-Derived Neurons With Synthetic Voltage Sensors
Front Cell Neurosci, 15, 671549
DOI 10.3389/fncel.2021.671549, PubMed 34122014 -
Using iPSC Models to Understand the Role of Estrogen in Neuron-Glia Interactions in Schizophrenia and Bipolar Disorder
Cells, 10 (2)
DOI 10.3390/cells10020209, PubMed 33494281 -
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
Genet Med, 23 (10), 1922-1932
DOI 10.1038/s41436-021-01232-8, PubMed 34163037 -
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
Genet Med, 23 (10), 2016
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Sex differences in disease progression and arrhythmic risk in patients with arrhythmogenic cardiomyopathy
Europace, 23 (7), 1084-1091
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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
Am J Hum Genet, 108 (6), 1053-1068
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Positive response to imatinib in PDGFRB-related Kosaki overgrowth syndrome
Am J Med Genet A, 185 (8), 2597-2601
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Extensive bidirectional genetic overlap between bipolar disorder and cardiovascular disease phenotypes
Transl Psychiatry, 11 (1), 407
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Polygenic overlap and shared genetic loci between loneliness, severe mental disorders, and cardiovascular disease risk factors suggest shared molecular mechanisms
Transl Psychiatry, 11 (1), 3
DOI 10.1038/s41398-020-01142-4, PubMed 33414458 -
Elevating CDCA3 Levels Enhances Tyrosine Kinase Inhibitor Sensitivity in TKI-Resistant EGFR Mutant Non-Small-Cell Lung Cancer
Cancers (Basel), 13 (18)
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Ask Rosa - The making of a digital genetic conversation tool, a chatbot, about hereditary breast and ovarian cancer
Patient Educ Couns, 105 (6), 1488-1494
DOI 10.1016/j.pec.2021.09.027, PubMed 34649750 -
The impact of demographic and clinical characteristics on the trajectories of health-related quality of life among patients with Fabry disease
Orphanet J Rare Dis, 16 (1), 427
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Challenges to Bringing Personalized Medicine to a Low-Resource Setting in Peru
Int J Environ Res Public Health, 18 (4)
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Histological Features of Sporadic and Familial Testicular Germ Cell Tumors Compared and Analysis of Age-Related Changes of Histology
Cancers (Basel), 13 (7)
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A human iPSC-astroglia neurodevelopmental model reveals divergent transcriptomic patterns in schizophrenia
Transl Psychiatry, 11 (1), 554
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Increased circulating IL-18 levels in severe mental disorders indicate systemic inflammasome activation
Brain Behav Immun, 99, 299-306
DOI 10.1016/j.bbi.2021.10.017, PubMed 34758379 -
Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs
Hum Brain Mapp, 43 (1), 300-328
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1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans
Transl Psychiatry, 11 (1), 182
DOI 10.1038/s41398-021-01213-0, PubMed 33753722 -
[More accurate fetal diagnostics]
Tidsskr Nor Laegeforen, 141 (2021-14)
DOI 10.4045/tidsskr.21.0424, PubMed 34641655 -
[Correction: More accurate fetal diagnostics]
Tidsskr Nor Laegeforen, 141 (16)
DOI 10.4045/tidsskr.21.0728, PubMed 34758600 -
The Tails of Protein Kinase A
Mol Pharmacol, 101 (4), 219-225
DOI 10.1124/molpharm.121.000315, PubMed 34330820 -
PKA Cβ: a forgotten catalytic subunit of cAMP-dependent protein kinase opens new windows for PKA signaling and disease pathologies
Biochem J, 478 (11), 2101-2119
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On the possible existence of a liver LDL-ostat, and its malfunctioning in familial hypercholesterolemia
Med Hypotheses, 147, 110500
DOI 10.1016/j.mehy.2021.110500, PubMed 33515861 -
Shared genetic architecture between neuroticism, coronary artery disease and cardiovascular risk factors
Transl Psychiatry, 11 (1), 368
DOI 10.1038/s41398-021-01466-9, PubMed 34226488 -
Patterns and tempo of PCSK9 pseudogenizations suggest an ancient divergence in mammalian cholesterol homeostasis mechanisms
Genetica, 149 (1), 1-19
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HLA-B*27 typing using a triplex real time PCR in routine laboratory
HLA, 98 (4), 366-369
DOI 10.1111/tan.14386, PubMed 34342381 -
Narcolepsy type 1 patients have lower levels of effector memory CD4+ T cells compared to their siblings when controlling for H1N1-(Pandemrix™)-vaccination and HLA DQB1∗06:02 status
Sleep Med, 85, 271-279
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High nocturnal sleep fragmentation is associated with low T lymphocyte P2Y11 protein levels in narcolepsy type 1
Sleep, 44 (8)
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Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
Am J Hum Genet, 108 (5), 857-873
DOI 10.1016/j.ajhg.2021.04.001, PubMed 33961779 -
Correction to: Human cytomegalovirus DNA and immediate early protein 1/2 are highly associated with glioma and prognosis
Protein Cell, 12 (4), 313
DOI 10.1007/s13238-020-00787-7, PubMed 32929699 -
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
Hum Genet, 140 (12), 1709-1731
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A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer's disease
Nat Genet, 53 (9), 1276-1282
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Author Correction: A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer's disease
Nat Genet, 53 (12), 1722
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Genome-wide analysis reveals genetic overlap between alcohol use behaviours, schizophrenia and bipolar disorder and identifies novel shared risk loci
Addiction, 117 (3), 600-610
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Ultralow amounts of DNA from long-term archived serum samples produce high-quality methylomes
Clin Epigenetics, 13 (1), 107
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Association of Birth Asphyxia With Regional White Matter Abnormalities Among Patients With Schizophrenia and Bipolar Disorders
JAMA Netw Open, 4 (12), e2139759
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Fine mapping of the HLA locus in Parkinson's disease in Europeans
NPJ Parkinsons Dis, 7 (1), 84
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Development and Characterization of SYBR Green I Based RT-PCR Assay for Detection of Omsk Hemorrhagic Fever Virus
Virol Sin, 36 (6), 1644-1647
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Novel associations between parental and newborn cord blood metabolic profiles in the Norwegian Mother, Father and Child Cohort Study
BMC Med, 19 (1), 91
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Cholesterol at ages 6, 12 and 24 months: Tracking and associations with diet and maternal cholesterol in the Infant Cholesterol Study
Atherosclerosis, 326, 11-16
DOI 10.1016/j.atherosclerosis.2021.04.017, PubMed 33990045
Publications 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 -
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
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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
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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 -
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 -
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 -
Mitochondrial genome-wide association study of migraine - the HUNT Study
Cephalalgia, 40 (6), 625-634
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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 -
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
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Genetic control of variability in subcortical and intracranial volumes
Mol Psychiatry, 26 (8), 3876-3883
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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 -
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 -
Correction: 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 (9), 1569
DOI 10.1038/s41436-020-0892-4, PubMed 32690931 -
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
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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
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Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome
Hum Mutat, 41 (12), 2179-2194
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Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia
Ann Intern Med, 173 (12), 989-1001
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PET molecular imaging of phosphodiesterase 10A: An early biomarker of Huntington's disease progression
Mov. Disord., 35 (4), 606-615
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High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study
Orphanet J Rare Dis, 15 (1), 123
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Correction to: High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study
Orphanet J Rare Dis, 15 (1), 342
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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
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The genetic architecture of the human cerebral cortex
Science, 367 (6484)
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Selective Stimulation of Duplicated Atlantic Salmon MHC Pathway Genes by Interferon-Gamma
Front Immunol, 11, 571650
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Mainstreamed genetic testing of breast cancer patients in two hospitals in South Eastern Norway
Fam Cancer, 19 (2), 133-142
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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
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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
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An extension to: Systematic assessment of commercially available low-input miRNA library preparation kits
RNA Biol, 17 (9), 1284-1292
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Transcriptome profiling of human thymic CD4+ and CD8+ T cells compared to primary peripheral T cells
BMC Genomics, 21 (1), 350
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Genetic and clinical variations in a Norwegian sample diagnosed with Rett syndrome
Brain Dev, 42 (7), 484-495
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Syndecan-4 Protects the Heart From the Profibrotic Effects of Thrombin-Cleaved Osteopontin
J Am Heart Assoc, 9 (3), e013518
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Runaway multi-allelic copy number variation at the α-defensin locus in African and Asian populations
Sci Rep, 10 (1), 9101
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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
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Does SARS-CoV-2 has a longer incubation period than SARS and MERS?
J Med Virol, 92 (5), 476-478
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HLA and sleep parameter associations in post-H1N1 narcolepsy type 1 patients and first-degree relatives
Sleep, 43 (3)
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Publisher Correction: Common brain disorders are associated with heritable patterns of apparent aging of the brain
Nat Neurosci, 23 (2), 295
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Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants
Genet Med, 22 (11), 1920
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Prevalence and incidence rates of atrial fibrillation in Norway 2004-2014
Heart, 107 (3), 201-207
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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
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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 -
We suggest "seizure prevention epilepsy medication"
Tidsskr. Nor. Laegeforen., 140 (14), 1422 -
Correction: Møller, P.; et al. Causes for Frequent Pathogenic BRCA1 Variants Include Low Penetrance in Fertile Ages, Recurrent De-Novo Mutations and Genetic Drift. Cancers 2019, 11, 132
Cancers (Basel), 12 (2)
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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, 141 (3), 303-308
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Intravenous Cyclophosphamide in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome. An Open-Label Phase II Study
Front Med (Lausanne), 7, 162
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Atherogenic Lipid Ratios Related to Myeloperoxidase and C-Reactive Protein Levels in Psychotic Disorders
Front Psychiatry, 11, 672
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Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action
JAMA Cardiol, 5 (2), 217-229
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The Relationship Between Polygenic Risk Scores and Cognition in Schizophrenia
Schizophr Bull, 46 (2), 336-344
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The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research
F1000Res, 9
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Phenotype-specific differences in polygenicity and effect size distribution across functional annotation categories revealed by AI-MiXeR
Bioinformatics, 36 (18), 4749-4756
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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
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Correction: Genome-wide analysis reveals extensive genetic overlap between schizophrenia, bipolar disorder, and intelligence
Mol Psychiatry, 25 (4), 914
DOI 10.1038/s41380-019-0456-7, PubMed 31308466 -
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
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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
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Correction: 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), 366
DOI 10.1038/s41398-020-01061-4, PubMed 33139722 -
Gene panel testing
Tidsskr. Nor. Laegeforen., 140 (3), 224-227 -
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
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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 -
Correction to: An Illumina approach to MHC typing of Atlantic salmon
Immunogenetics, 72 (1-2), 133
DOI 10.1007/s00251-019-01152-7, PubMed 31822946 -
Triciribine Engages ZFP36L1 and HuR to Stabilize LDLR mRNA
Molecules, 25 (19)
DOI 10.3390/molecules25194505, PubMed 33019656 -
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 -
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 -
Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia
Mol Psychiatry, 25 (3), 692-695
DOI 10.1038/s41380-019-0358-8, PubMed 30705424 -
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 -
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
DOI 10.1080/2162402X.2020.1824644, PubMed 33457104 -
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis
Eur J Hum Genet, 29 (6), 920-929
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 -
Human cytomegalovirus DNA and immediate early protein 1/2 are highly associated with glioma and prognosis
Protein Cell, 11 (7), 525-533
DOI 10.1007/s13238-020-00696-9, PubMed 32189197 -
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, 42 (2), 135-141
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
Publications 2019
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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 -
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 -
A novel governance framework for GMO: A tiered, more flexible regulation for GMOs would help to stimulate innovation and public debate
EMBO Rep, 20 (5)
DOI 10.15252/embr.201947812, PubMed 31015362 -
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 -
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 -
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 -
Author Correction: Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function
Nat Commun, 10 (1), 2068
DOI 10.1038/s41467-019-10160-w, PubMed 31043617 -
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 -
Editorial Comment: Hyperlipidaemia and cardiovascular disease and impact of early cholesterol accumulation
Curr Opin Lipidol, 30 (6), 490-493
DOI 10.1097/MOL.0000000000000646, PubMed 31688171 -
"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 -
Publisher Correction: Shared heritability and functional enrichment across six solid cancers
Nat Commun, 10 (1), 4386
DOI 10.1038/s41467-019-12095-8, PubMed 31548585 -
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, 13 (2_suppl), 774S-784S
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 -
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 -
Author Correction: Large-scale transcriptome-wide association study identifies new prostate cancer risk regions
Nat Commun, 10 (1), 171
DOI 10.1038/s41467-018-08108-7, PubMed 30622272 -
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 -
Author Correction: Germline variation at 8q24 and prostate cancer risk in men of European ancestry
Nat Commun, 10 (1), 382
DOI 10.1038/s41467-019-08293-z, PubMed 30655571 -
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 -
The extracellular matrix proteoglycan lumican improves survival and counteracts cardiac dilatation and failure in mice subjected to pressure overload
Sci Rep, 9 (1), 9206
DOI 10.1038/s41598-019-45651-9, PubMed 31235849 -
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 -
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 -
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 -
Identification of genetic overlap and novel risk loci for attention-deficit/hyperactivity disorder and bipolar disorder
Mol Psychiatry, 26 (8), 4055-4065
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 -
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 -
Publisher Correction: Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection
Nat Genet, 51 (7), 1193
DOI 10.1038/s41588-019-0450-7, PubMed 31160808 -
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 -
Author Correction: GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study
Sci Rep, 9 (1), 15168
DOI 10.1038/s41598-019-51827-0, PubMed 31619746 -
Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis
Brain, 142 (4), e12
DOI 10.1093/brain/awz041, PubMed 30847471 -
Response to Tolva et al
Genet Med, 22 (4), 813-814
DOI 10.1038/s41436-019-0717-5, PubMed 31801985 -
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 -
Author Correction: Genome-wide association study of classical Hodgkin lymphoma identifies key regulators of disease susceptibility
Nat Commun, 10 (1), 157
DOI 10.1038/s41467-018-08105-w, PubMed 30622283 -
TBCK Encephaloneuropathy With Abnormal Lysosomal Storage: Use of a Structural Variant Bioinformatics Pipeline on Whole-Genome Sequencing Data Unravels a 20-Year-Old Clinical Mystery
Pediatr Neurol, 96, 74-75
DOI 10.1016/j.pediatrneurol.2019.02.001, PubMed 30898414 -
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 -
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 -
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 -
Author Correction: Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia
Nat Commun, 10 (1), 419
DOI 10.1038/s41467-018-08106-9, PubMed 30664635 -
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 -
Author Correction: Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma
Nat Commun, 10 (1), 213
DOI 10.1038/s41467-018-08107-8, PubMed 30631080 -
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
DOI 10.1158/0008-5472.CAN-18-3536 -
Accurate Adapter Information Is Crucial for Reproducibility and Reusability in Small RNA Seq Studies
Noncoding RNA, 5 (4)
DOI 10.3390/ncrna5040049, PubMed 31661777 -
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 -
Development of a Multimodal Apparatus to Generate Biomechanically Reproducible Spinal Cord Injuries in Large Animals
Front Neurol, 10, 223
DOI 10.3389/fneur.2019.00223, PubMed 30941086 -
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 -
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
Publications 2018
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Circulating Metabolic Biomarkers of Screen-Detected Prostate Cancer in the ProtecT Study
Cancer Epidemiol Biomarkers Prev, 28 (1), 208-216
DOI 10.1158/1055-9965.EPI-18-0079, PubMed 30352818 -
Expression of TCN1 in Blood is Negatively Associated with Verbal Declarative Memory Performance
Sci Rep, 8 (1), 12654
DOI 10.1038/s41598-018-30898-5, PubMed 30139959 -
Effect of epilepsy on autism symptoms in Angelman syndrome
Mol Autism, 9, 2
DOI 10.1186/s13229-017-0185-1, PubMed 29340132 -
Deltamethrin resistance in the salmon louse, Lepeophtheirus salmonis (Krøyer): Maternal inheritance and reduced apoptosis
Sci Rep, 8 (1), 8450
DOI 10.1038/s41598-018-26420-6, PubMed 29855496 -
Vitamin D levels, brain volume, and genetic architecture in patients with psychosis
PLoS One, 13 (8), e0200250
DOI 10.1371/journal.pone.0200250, PubMed 30142216 -
Molecular Genetic Analysis of PKHD1 Mutations in Pedigrees With Autosomal Recessive Polycystic Kidney Disease
Iran J Kidney Dis, 12 (6), 350-358
PubMed 30595564 -
MK-2206, an allosteric inhibitor of AKT, stimulates LDLR expression and LDL uptake: A potential hypocholesterolemic agent
Atherosclerosis, 276, 28-38
DOI 10.1016/j.atherosclerosis.2018.07.009, PubMed 30025252 -
Triciribine increases LDLR expression and LDL uptake through stabilization of LDLR mRNA
Sci Rep, 8 (1), 16174
DOI 10.1038/s41598-018-34237-6, PubMed 30385871 -
Renal manifestations of tuberous sclerosis complex: patients' and parents' knowledge and routines for renal follow-up - a questionnaire study
BMC Nephrol, 19 (1), 39
DOI 10.1186/s12882-018-0835-3, PubMed 29439672 -
A Twin Study of Normative Personality and DSM-IV Personality Disorder Criterion Counts: Evidence for Separate Genetic Influences
Am J Psychiatry, 175 (7), 649-656
DOI 10.1176/appi.ajp.2017.17050493, PubMed 29558815 -
Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants
Nat Commun, 9 (1), 2256
DOI 10.1038/s41467-018-04109-8, PubMed 29892050 -
How low can you go? Pushing the limits of low-input ChIP-seq
Brief Funct Genomics, 17 (2), 89-95
DOI 10.1093/bfgp/elx037, PubMed 29087438 -
Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function
Nat Commun, 9 (1), 2098
DOI 10.1038/s41467-018-04362-x, PubMed 29844566 -
Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder
Commun Biol, 1, 163
DOI 10.1038/s42003-018-0155-y, PubMed 30320231 -
Vigorous exercise in patients with hypertrophic cardiomyopathy
Int J Cardiol, 250, 157-163
DOI 10.1016/j.ijcard.2017.07.015, PubMed 29169752 -
An association between YKL-40 and type 2 diabetes in psychotic disorders
Acta Psychiatr Scand, 139 (1), 37-45
DOI 10.1111/acps.12971, PubMed 30328100 -
Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds
Hered Cancer Clin Pract, 16, 4
DOI 10.1186/s13053-018-0086-0, PubMed 29371908 -
Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families
Fam Cancer, 17 (1), 141-153
DOI 10.1007/s10689-017-0011-0, PubMed 28608266 -
Identification of genetic variants for clinical management of familial colorectal tumors
BMC Med Genet, 19 (1), 26
DOI 10.1186/s12881-018-0533-9, PubMed 29458332 -
Associations between persistent organic pollutants and metabolic syndrome in morbidly obese individuals
Nutr Metab Cardiovasc Dis, 28 (7), 735-742
DOI 10.1016/j.numecd.2018.03.004, PubMed 29699815 -
Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
Atherosclerosis, 277, 234-255
DOI 10.1016/j.atherosclerosis.2018.08.051, PubMed 30270054 -
Ancient genomes from Iceland reveal the making of a human population
Science, 360 (6392), 1028-1032
DOI 10.1126/science.aar2625, PubMed 29853688 -
Monocytes accumulate in the airways of children with fatal asthma
Clin Exp Allergy, 48 (12), 1631-1639
DOI 10.1111/cea.13265, PubMed 30184280 -
Abnormally wide eustachian tubes involving the sphenoid bone: A collection
Laryngoscope Investig Otolaryngol, 3 (3), 214-217
DOI 10.1002/lio2.158, PubMed 30062137 -
Health Survey of Adults with Neurofibromatosis 1 Compared to Population Study Controls
J Genet Couns, 27 (5), 1102-1110
DOI 10.1007/s10897-018-0229-5, PubMed 29429039 -
STIM1 R304W causes muscle degeneration and impaired platelet activation in mice
Cell Calcium, 76, 87-100
DOI 10.1016/j.ceca.2018.10.001, PubMed 30390422 -
Lack of Association among Peptidyl Arginine Deiminase Type 4 Autoantibodies, PADI4 Polymorphisms, and Clinical Characteristics in Rheumatoid Arthritis
J Rheumatol, 45 (9), 1211-1219
DOI 10.3899/jrheum.170769, PubMed 29858238 -
[Cardiomyopathy in hereditary muscular dystrophies]
Tidsskr Nor Laegeforen, 138 (1)
DOI 10.4045/tidsskr.16.0683, PubMed 29313627 -
Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation
Eur Heart J, 39 (10), 853-860
DOI 10.1093/eurheartj/ehx596, PubMed 29095976 -
Epilepsy in classic Rett syndrome: Course and characteristics in adult age
Epilepsy Res, 145, 134-139
DOI 10.1016/j.eplepsyres.2018.06.012, PubMed 29966812 -
De novo mutations in SCN1A are associated with classic Rett syndrome: a case report
BMC Med Genet, 19 (1), 184
DOI 10.1186/s12881-018-0700-z, PubMed 30305042 -
BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway
Hered Cancer Clin Pract, 16, 3
DOI 10.1186/s13053-017-0085-6, PubMed 29339979 -
Exploring the influence from whole blood DNA extraction methods on Infinium 450K DNA methylation
PLoS One, 13 (12), e0208699
DOI 10.1371/journal.pone.0208699, PubMed 30540848 -
Exploring the Wnt signaling pathway in schizophrenia and bipolar disorder
Transl Psychiatry, 8 (1), 55
DOI 10.1038/s41398-018-0102-1, PubMed 29507296 -
Attenuated Notch signaling in schizophrenia and bipolar disorder
Sci Rep, 8 (1), 5349
DOI 10.1038/s41598-018-23703-w, PubMed 29593239 -
Risk of Ischemic Stroke and Total Cerebrovascular Disease in Familial Hypercholesterolemia: A Register Study From Norway
Stroke, 50 (1), 172-174
DOI 10.1161/STROKEAHA.118.023456, PubMed 30580708 -
Elevated expression of a minor isoform of ANK3 is a risk factor for bipolar disorder
Transl Psychiatry, 8 (1), 210
DOI 10.1038/s41398-018-0175-x, PubMed 30297702 -
Proteomic Analysis of Zika Virus Infected Primary Human Fetal Neural Progenitors Suggests a Role for Doublecortin in the Pathological Consequences of Infection in the Cortex
Front Microbiol, 9, 1067
DOI 10.3389/fmicb.2018.01067, PubMed 29922247 -
The combination of maternal KIR-B and fetal HLA-C2 is associated with decidua basalis acute atherosis in pregnancies with preeclampsia
J Reprod Immunol, 129, 23-29
DOI 10.1016/j.jri.2018.07.005, PubMed 30055414 -
Leber Hereditary Optic Neuropathy Caused by a Mitochondrial DNA 10663T>C Point Mutation and Its Response to Idebenone Treatment
J Neuroophthalmol, 38 (1), 129-131
DOI 10.1097/WNO.0000000000000598, PubMed 29210930 -
ANO7 is associated with aggressive prostate cancer
Int J Cancer, 143 (10), 2479-2487
DOI 10.1002/ijc.31746, PubMed 30157291 -
Stability of the Brain Functional Connectome Fingerprint in Individuals With Schizophrenia
JAMA Psychiatry, 75 (7), 749-751
DOI 10.1001/jamapsychiatry.2018.0844, PubMed 29799905 -
Correction to: A systematic comparison of copy number alterations in four types of female cancer
BMC Cancer, 18 (1), 80
DOI 10.1186/s12885-017-3766-7, PubMed 29338700 -
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants
Genet Med, 21 (4), 850-860
DOI 10.1038/s41436-018-0259-2, PubMed 30245513 -
Prospective evaluation of body size and breast cancer risk among BRCA1 and BRCA2 mutation carriers
Int J Epidemiol, 47 (3), 987-997
DOI 10.1093/ije/dyy039, PubMed 29547931 -
Locomotor central pattern generator excitability states and serotonin sensitivity after spontaneous recovery from a neonatal lumbar spinal cord injury
Brain Res, 1708, 10-19
DOI 10.1016/j.brainres.2018.12.001, PubMed 30521786 -
Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy
Nat Genet, 50 (3), 344-348
DOI 10.1038/s41588-018-0063-6, PubMed 29483653 -
Age-specific ovarian cancer risks among women with a BRCA1 or BRCA2 mutation
Gynecol Oncol, 150 (1), 85-91
DOI 10.1016/j.ygyno.2018.05.011, PubMed 29793803 -
Hormone Replacement Therapy After Oophorectomy and Breast Cancer Risk Among BRCA1 Mutation Carriers
JAMA Oncol, 4 (8), 1059-1065
DOI 10.1001/jamaoncol.2018.0211, PubMed 29710224 -
In Vivo Two-Photon Voltage Imaging with Sulfonated Rhodamine Dyes
ACS Cent Sci, 4 (10), 1371-1378
DOI 10.1021/acscentsci.8b00422, PubMed 30410975 -
Effect of modified Atkins diet in adults with drug-resistant focal epilepsy: A randomized clinical trial
Epilepsia, 59 (8), 1567-1576
DOI 10.1111/epi.14457, PubMed 29901816 -
HLA -A, -C, -B, -DRB1, -DQB1 and -DPB1 allele and haplotype frequencies in 4514 healthy Norwegians
Hum Immunol, 79 (7), 527-529
DOI 10.1016/j.humimm.2018.04.012, PubMed 29684411 -
Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance
Hum Genomics, 12 (1), 51
DOI 10.1186/s40246-018-0183-1, PubMed 30458859 -
Quality control for Illumina 450K methylation data in the absence of iDat files using correlation structure in pedigrees and repeated measures
BMC Genet, 19 (Suppl 1), 66
DOI 10.1186/s12863-018-0636-5, PubMed 30255766 -
A molecule-based genetic association approach implicates a range of voltage-gated calcium channels associated with schizophrenia
Am J Med Genet B Neuropsychiatr Genet, 177 (4), 454-467
DOI 10.1002/ajmg.b.32634, PubMed 29704319 -
'Neurasthenia gastrica' revisited: perceptions of nerve-gut interactions in nervous exhaustion, 1880-1920
Microb Ecol Health Dis, 29 (2), 1553438
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Biallelic variants in KIF14 cause intellectual disability with microcephaly
Eur J Hum Genet, 26 (3), 330-339
DOI 10.1038/s41431-017-0088-9, PubMed 29343805 -
Germline variation at 8q24 and prostate cancer risk in men of European ancestry
Nat Commun, 9 (1), 4616
DOI 10.1038/s41467-018-06863-1, PubMed 30397198 -
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome
Am J Med Genet A, 176 (4), 862-876
DOI 10.1002/ajmg.a.38626, PubMed 29460469 -
Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition
Br J Cancer, 118 (6), e17
DOI 10.1038/bjc.2018.11, PubMed 29509747 -
Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition
Br J Cancer, 118 (2), 266-276
DOI 10.1038/bjc.2017.429, PubMed 29301143 -
Impact of age on excess risk of coronary heart disease in patients with familial hypercholesterolaemia
Heart, 104 (19), 1600-1607
DOI 10.1136/heartjnl-2017-312706, PubMed 29622598 -
Retraction Note to: The BRCA2 variant c.68-7 T > A is associated with breast cancer
Hered Cancer Clin Pract, 16, 10
DOI 10.1186/s13053-018-0093-1, PubMed 29745381 -
Biochemical and cellular consequences of the antithrombin p.Met1? mutation identified in a severe thrombophilic family
Oncotarget, 9 (69), 33202-33214
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BRCA mutation carrier detection. A model-based cost-effectiveness analysis comparing the traditional family history approach and the testing of all patients with breast cancer
ESMO Open, 3 (3), e000328
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Epigenetics, heritability and longitudinal analysis
BMC Genet, 19 (Suppl 1), 77
DOI 10.1186/s12863-018-0648-1, PubMed 30255778 -
A Bayesian mixed modeling approach for estimating heritability
BMC Proc, 12 (Suppl 9), 31
DOI 10.1186/s12919-018-0131-z, PubMed 30275883 -
Trends in Diagnostics, Surgical Treatment, and Prognostic Factors for Outcomes in Medullary Thyroid Carcinoma in Norway: A Nationwide Population-Based Study
Eur Thyroid J, 8 (1), 31-40
DOI 10.1159/000493977, PubMed 30800639 -
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection
Nat Genet, 50 (3), 381-389
DOI 10.1038/s41588-018-0059-2, PubMed 29483656 -
Perhaps test, often explore, always counsel
Tidsskr Nor Laegeforen, 138 (13)
DOI 10.4045/tidsskr.18.0574, PubMed 30180484 -
[B. Paus responds]
Tidsskr Nor Laegeforen, 138 (16)
DOI 10.4045/tidsskr.18.0735, PubMed 30344325 -
The right to know amyotrophic lateral sclerosis Reply
Tidsskr. Nor. Laegeforen., 138 (16), 1502-1503 -
miRAW: A deep learning-based approach to predict microRNA targets by analyzing whole microRNA transcripts
PLoS Comput Biol, 14 (7), e1006185
DOI 10.1371/journal.pcbi.1006185, PubMed 30005074 -
A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience
Eur J Hum Genet, 26 (7), 960-971
DOI 10.1038/s41431-018-0130-6, PubMed 29681619 -
Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report
BMC Med Genet, 19 (1), 155
DOI 10.1186/s12881-018-0671-0, PubMed 30170566 -
Circulating small non-coding RNAs associated with age, sex, smoking, body mass and physical activity
Sci Rep, 8 (1), 17650
DOI 10.1038/s41598-018-35974-4, PubMed 30518766 -
A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia
Eur J Neurol, 25 (7), 943-e71
DOI 10.1111/ene.13625, PubMed 29528531 -
Transcriptomics of the Vaccine Immune Response: Priming With Adjuvant Modulates Recall Innate Responses After Boosting
Front Immunol, 9, 1248
DOI 10.3389/fimmu.2018.01248, PubMed 29922291 -
Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence
Nat Genet, 50 (7), 912-919
DOI 10.1038/s41588-018-0152-6, PubMed 29942086 -
Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci
Nat Genet, 50 (7), 928-936
DOI 10.1038/s41588-018-0142-8, PubMed 29892016 -
An optimized FAIRE procedure for low cell numbers in yeast
Yeast, 35 (8), 507-512
DOI 10.1002/yea.3316, PubMed 29577419 -
Genetic counselling and testing of susceptibility genes for therapeutic decision-making in breast cancer-an European consensus statement and expert recommendations
Eur J Cancer, 106, 54-60
DOI 10.1016/j.ejca.2018.10.007, PubMed 30471648 -
Whole-exome sequencing for diagnosis of hereditary ichthyosis
J Eur Acad Dermatol Venereol, 32 (6), 1022-1027
DOI 10.1111/jdv.14870, PubMed 29444371 -
Homocarnosinosis: A historical update and findings in the SPG11 gene
Acta Neurol Scand, 138 (3), 245-250
DOI 10.1111/ane.12949, PubMed 29732542 -
Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation
J Neurodev Disord, 10 (1), 17
DOI 10.1186/s11689-018-9235-z, PubMed 29788902 -
Genetic Overlap Between Schizophrenia and Volumes of Hippocampus, Putamen, and Intracranial Volume Indicates Shared Molecular Genetic Mechanisms
Schizophr Bull, 44 (4), 854-864
DOI 10.1093/schbul/sbx148, PubMed 29136250 -
Enrichment of genetic markers of recent human evolution in educational and cognitive traits
Sci Rep, 8 (1), 12585
DOI 10.1038/s41598-018-30387-9, PubMed 30135563 -
Long-term experience with intranasal bevacizumab therapy
Laryngoscope, 128 (10), 2237-2244
DOI 10.1002/lary.27147, PubMed 29469958 -
Pentraxin 3 level is elevated in hereditary hemorrhagic telangiectasia and reflects the severity of disease-associated epistaxis
Laryngoscope, 129 (1), E44-E49
DOI 10.1002/lary.27548, PubMed 30329172 -
Genetic variation in 117 myelination-related genes in schizophrenia: Replication of association to lipid biosynthesis genes
Sci Rep, 8 (1), 6915
DOI 10.1038/s41598-018-25280-4, PubMed 29720671 -
APC mosaicism in a young woman with desmoid type fibromatosis and familial adenomatous polyposis
Fam Cancer, 17 (4), 539-543
DOI 10.1007/s10689-018-0072-8, PubMed 29368261 -
Mutated Thyroid Hormone Transporter OATP1C1 Associates with Severe Brain Hypometabolism and Juvenile Neurodegeneration
Thyroid, 28 (11), 1406-1415
DOI 10.1089/thy.2018.0595, PubMed 30296914 -
Microbial Community Composition of Tap Water and Biofilms Treated with or without Copper-Silver Ionization
Environ Sci Technol, 52 (6), 3354-3364
DOI 10.1021/acs.est.7b05963, PubMed 29461810 -
Prenatal iron exposure and childhood type 1 diabetes
Sci Rep, 8 (1), 9067
DOI 10.1038/s41598-018-27391-4, PubMed 29899542 -
Immunomodulatory capacity of the serotonin receptor 5-HT2B in a subset of human dendritic cells
Sci Rep, 8 (1), 1765
DOI 10.1038/s41598-018-20173-y, PubMed 29379077 -
The Molecular Basis for Specificity at the Level of the Protein Kinase a Catalytic Subunit
Front Endocrinol (Lausanne), 9, 538
DOI 10.3389/fendo.2018.00538, PubMed 30258407 -
Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia
Mol Psychiatry, 25 (3), 584-602
DOI 10.1038/s41380-018-0118-1, PubMed 30283035 -
The complete mitochondrial genome of Bactrocera biguttula (Bezzi) (Diptera: Tephritidae) and phylogenetic relationships with other Dacini
Int J Biol Macromol, 126, 130-140
DOI 10.1016/j.ijbiomac.2018.12.186, PubMed 30584936 -
Deep 2-photon imaging and artifact-free optogenetics through transparent graphene microelectrode arrays
Nat Commun, 9 (1), 2035
DOI 10.1038/s41467-018-04457-5, PubMed 29789548 -
Subtype-specific clinical and prognostic relevance of tumor-expressed F5 and regulatory F5 variants in breast cancer: the CoCaV study
J Thromb Haemost, 16 (7), 1347-1356
DOI 10.1111/jth.14151, PubMed 29766637 -
COLOR ATLAS OF GENETICS
Tidsskr. Nor. Laegeforen., 138 (14), 1368 -
Long QT syndrome KCNH2 mutation with sequential fetal and maternal sudden death
Forensic Sci Med Pathol, 14 (3), 367-371
DOI 10.1007/s12024-018-9989-3, PubMed 29881912 -
From colorectal cancer pattern to the characterization of individuals at risk: Picture for genetic research in Latin America
Int J Cancer, 145 (2), 318-326
DOI 10.1002/ijc.31920, PubMed 30303536 -
Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes
Mol Psychiatry, 25 (11), 3053-3065
DOI 10.1038/s41380-018-0262-7, PubMed 30279459 -
Survival, causes of death, and cardiovascular events in patients with Marfan syndrome
Mol Genet Genomic Med, 6 (6), 1114-1123
DOI 10.1002/mgg3.489, PubMed 30393980 -
Transcriptome Remodeling of Differentiated Cells during Chronological Ageing of Yeast Colonies: New Insights into Metabolic Differentiation
Oxid Med Cell Longev, 2018, 4932905
DOI 10.1155/2018/4932905, PubMed 29576850 -
Long Noncoding RNAs in Yeast Cells and Differentiated Subpopulations of Yeast Colonies and Biofilms
Oxid Med Cell Longev, 2018, 4950591
DOI 10.1155/2018/4950591, PubMed 29765496 -
Meta-analysis of Alzheimer's disease on 9,751 samples from Norway and IGAP study identifies four risk loci
Sci Rep, 8 (1), 18088
DOI 10.1038/s41598-018-36429-6, PubMed 30591712 -
WDR5 Facilitates Human Cytomegalovirus Replication by Promoting Capsid Nuclear Egress
J Virol, 92 (9)
DOI 10.1128/JVI.00207-18, PubMed 29437978 -
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies
Genet Med, 21 (3), 663-675
DOI 10.1038/s41436-018-0085-6, PubMed 30158690 -
Identification of shared genetic variants between schizophrenia and lung cancer
Sci Rep, 8 (1), 674
DOI 10.1038/s41598-017-16481-4, PubMed 29330379
Publications 2017
-
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 -
Unraveling the role of maternal anti-HLA class I antibodies in fetal and neonatal thrombocytopenia-Antibody specificity analysis using epitope data
J Reprod Immunol, 122, 1-9
DOI 10.1016/j.jri.2017.06.003, PubMed 28686909 -
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 -
Data on exercise and cardiac imaging in a patient cohort with hypertrophic cardiomyopathy
Data Brief, 15, 30-39
DOI 10.1016/j.dib.2017.08.018, PubMed 28971120 -
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
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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 -
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
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The BRCA2 variant c.68-7 T>A is associated with breast cancer
Hered Cancer Clin Pract, 15, 20 (Retracted)
DOI 10.1186/s13053-017-0080-y, PubMed 29158857 -
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 -
Maternal and neonatal vitamin D status, genotype and childhood celiac disease
PLoS One, 12 (7), e0179080
DOI 10.1371/journal.pone.0179080, PubMed 28686601 -
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
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Neurofibromatosis type 2: Multiple intra-dermal tumors in a toddler
Am J Med Genet A, 173 (5), 1447-1449
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Novel UCHL1 mutations reveal new insights into ubiquitin processing
Hum Mol Genet, 26 (6), 1031-1040
DOI 10.1093/hmg/ddw391, PubMed 28007905 -
Novel UCHL1 mutations reveal new insights into ubiquitin processing
Hum Mol Genet, 26 (6), 1217-1218
DOI 10.1093/hmg/ddx072, PubMed 28334853 -
Full genome survey and dynamics of gene expression in the greater amberjack Seriola dumerili
Gigascience, 6 (12), 1-13
DOI 10.1093/gigascience/gix108, PubMed 29126158 -
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
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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 -
A woman in her thirties with breast cancer and bilateral goitre
Tidsskr Nor Laegeforen, 137 (11), 806-809
DOI 10.4045/tidsskr.16.0577, PubMed 28597636 -
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 -
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 -
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 -
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 -
Rapid recovery and altered neurochemical dependence of locomotor central pattern generation following lumbar neonatal spinal cord injury
J Physiol, 596 (2), 281-303
DOI 10.1113/JP274484, PubMed 29086918 -
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
Publications 2016
-
Novel genetic loci underlying human intracranial volume identified through genome-wide association
Nat Neurosci, 19 (12), 1569-1582
DOI 10.1038/nn.4398, PubMed 27694991 -
The role of microRNA-27a/b and microRNA-494 in estrogen-mediated downregulation of tissue factor pathway inhibitor α
J Thromb Haemost, 14 (6), 1226-37
DOI 10.1111/jth.13321, PubMed 26999003 -
Oestrogens Downregulate Tissue Factor Pathway Inhibitor through Oestrogen Response Elements in the 5'-Flanking Region
PLoS One, 11 (3), e0152114
DOI 10.1371/journal.pone.0152114, PubMed 26999742 -
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome
PLoS One, 11 (4), e0153757
DOI 10.1371/journal.pone.0153757, PubMed 27124303 -
A genetic association study of CSMD1 and CSMD2 with cognitive function
Brain Behav Immun, 61, 209-216
DOI 10.1016/j.bbi.2016.11.026, PubMed 27890662 -
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13
Eur J Med Genet, 59 (6-7), 342-6
DOI 10.1016/j.ejmg.2016.05.005, PubMed 27182039 -
Altered carbon turnover processes and microbiomes in soils under long-term extremely high CO2 exposure
Nat Microbiol, 1, 15025
DOI 10.1038/nmicrobiol.2015.25, PubMed 27571979 -
AIDING GENETIC ANALYSTS: DESIGN OF A LITERATURE EVALUATION SYSTEM
IADIS-Int. J. Comput. Sci. Inf. Syst., 11 (1), 1-16 -
A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1
J Clin Endocrinol Metab, 101 (8), 2975-83
DOI 10.1210/jc.2016-1821, PubMed 27253668 -
A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis
Am J Hum Genet, 100 (1), 64-74
DOI 10.1016/j.ajhg.2016.11.013, PubMed 28041642 -
Effect of hypoxia on tissue factor pathway inhibitor expression in breast cancer
J Thromb Haemost, 14 (2), 387-96
DOI 10.1111/jth.13206, PubMed 26598923 -
Expanding the genotypic spectrum of Perrault syndrome
Clin Genet, 91 (2), 302-312
DOI 10.1111/cge.12776, PubMed 26970254 -
Identification of a Natural Killer Cell Receptor Allele That Prolongs Survival of Cytomegalovirus-Positive Glioblastoma Patients
Cancer Res, 76 (18), 5326-36
DOI 10.1158/0008-5472.CAN-16-1162, PubMed 27406829 -
Intensive breast screening in BRCA2 mutation carriers is associated with reduced breast cancer specific and all cause mortality
Hered Cancer Clin Pract, 14, 8
DOI 10.1186/s13053-016-0048-3, PubMed 27087880 -
Modeling psychiatric disorders: from genomic findings to cellular phenotypes
Mol Psychiatry, 21 (9), 1167-79
DOI 10.1038/mp.2016.89, PubMed 27240529 -
Modeling psychiatric disorders: from genomic findings to cellular phenotypes
Mol Psychiatry, 21 (9), 1321
DOI 10.1038/mp.2016.100, PubMed 27324182 -
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF
Hum Mutat, 37 (4), 359-63
DOI 10.1002/humu.22960, PubMed 26820108 -
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF
Hum Mutat, 37 (7), 711
DOI 10.1002/humu.22997, PubMed 27300082 -
Genetic risk variants for autoimmune diseases that influence gene expression in thymus
Hum Mol Genet, 25 (14), 3117-3124
DOI 10.1093/hmg/ddw152, PubMed 27199374 -
Autoimmune risk variants in ERAP2 are associated with gene-expression levels in thymus
Genes Immun, 17 (7), 406-411
DOI 10.1038/gene.2016.39, PubMed 27829666 -
Intra-individual changes in DNA methylation not mediated by cell-type composition are correlated with aging during childhood
Clin Epigenetics, 8, 110
DOI 10.1186/s13148-016-0277-3, PubMed 27785156 -
Cell type specific DNA methylation in cord blood: A 450K-reference data set and cell count-based validation of estimated cell type composition
Epigenetics, 11 (9), 690-698
DOI 10.1080/15592294.2016.1214782, PubMed 27494297 -
Fibromatosis in vertical rectus abdominis myocutaneous flap imitating tumor recurrence after surgery for locally advanced rectal cancer: case report
World J Surg Oncol, 14, 63
DOI 10.1186/s12957-016-0818-4, PubMed 26940557 -
A sequence variant associating with educational attainment also affects childhood cognition
Sci Rep, 6, 36189
DOI 10.1038/srep36189, PubMed 27811963 -
Migraine and frequent tension-type headache are not associated with multiple sclerosis in a Norwegian case-control study
Mult Scler J Exp Transl Clin, 2, 2055217316682976
DOI 10.1177/2055217316682976, PubMed 28607748 -
Contribution of oxytocin receptor polymorphisms to amygdala activation in schizophrenia spectrum disorders
BJPsych Open, 2 (6), 353-358
DOI 10.1192/bjpo.bp.116.003376, PubMed 27847593 -
Gut and liver T-cells of common clonal origin in primary sclerosing cholangitis-inflammatory bowel disease
J Hepatol, 66 (1), 116-122
DOI 10.1016/j.jhep.2016.09.002, PubMed 27647428 -
Parents' attitudes toward genetic research in autism spectrum disorder
Psychiatr Genet, 26 (2), 74-80
DOI 10.1097/YPG.0000000000000121, PubMed 26867185 -
Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features
Am J Hum Genet, 99 (4), 912-916
DOI 10.1016/j.ajhg.2016.07.019, PubMed 27616480 -
A Cross-Sectional Study of the Prevalence of Gastrointestinal Symptoms and Pathology in Patients With Common Variable Immunodeficiency
Am J Gastroenterol, 111 (10), 1467-1475
DOI 10.1038/ajg.2016.329, PubMed 27527747 -
Task modulations and clinical manifestations in the brain functional connectome in 1615 fMRI datasets
Neuroimage, 147, 243-252
DOI 10.1016/j.neuroimage.2016.11.073, PubMed 27916665 -
A systematic comparison of copy number alterations in four types of female cancer
BMC Cancer, 16 (1), 913
DOI 10.1186/s12885-016-2899-4, PubMed 27876019 -
Hormone replacement therapy after menopause and risk of breast cancer in BRCA1 mutation carriers: a case-control study
Breast Cancer Res Treat, 155 (2), 365-73
DOI 10.1007/s10549-016-3685-3, PubMed 26780555 -
Bilateral Oophorectomy and Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
J Natl Cancer Inst, 109 (1)
DOI 10.1093/jnci/djw177, PubMed 27601060 -
Loss of B Cells in Patients with Heterozygous Mutations in IKAROS
N Engl J Med, 374 (11), 1032-1043
DOI 10.1056/NEJMoa1512234, PubMed 26981933 -
Effect of energy restriction and physical exercise intervention on phenotypic flexibility as examined by transcriptomics analyses of mRNA from adipose tissue and whole body magnetic resonance imaging
Physiol Rep, 4 (21)
DOI 10.14814/phy2.13019, PubMed 27821717 -
Gene expression in term placentas is regulated more by spinal or epidural anesthesia than by late-onset preeclampsia or gestational diabetes mellitus
Sci Rep, 6, 29715
DOI 10.1038/srep29715, PubMed 27405415 -
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy
Neurology, 86 (23), 2171-8
DOI 10.1212/WNL.0000000000002740, PubMed 27164704 -
Variable phenotypic expression of nonsense mutation p.Thr5* in the APOE gene
Mol Genet Metab Rep, 9, 67-70
DOI 10.1016/j.ymgmr.2016.10.007, PubMed 27830118 -
The Atlantic salmon genome provides insights into rediploidization
Nature, 533 (7602), 200-5
DOI 10.1038/nature17164, PubMed 27088604 -
Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome
Mol Syndromol, 7 (4), 234-238
DOI 10.1159/000448367, PubMed 27781033 -
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
Nat Genet, 49 (1), 27-35
DOI 10.1038/ng.3725, PubMed 27869829 -
Small-Molecule-Directed Hepatocyte-Like Cell Differentiation of Human Pluripotent Stem Cells
Curr Protoc Stem Cell Biol, 38, 1G.6.1-1G.6.18
DOI 10.1002/cpsc.13, PubMed 27532814 -
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
Am J Hum Genet, 98 (5), 981-992
DOI 10.1016/j.ajhg.2016.03.018, PubMed 27108798 -
Evidence for Genetic Overlap Between Schizophrenia and Age at First Birth in Women
JAMA Psychiatry, 73 (5), 497-505
DOI 10.1001/jamapsychiatry.2016.0129, PubMed 27007234 -
Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport
Brain, 139 (Pt 12), 3109-3120
DOI 10.1093/brain/aww244, PubMed 27742667 -
Cardiovascular disease mortality in patients with genetically verified familial hypercholesterolemia in Norway during 1992-2013
Eur J Prev Cardiol, 24 (2), 137-144
DOI 10.1177/2047487316676135, PubMed 27794106 -
Cardiovascular disease in patients with genotyped familial hypercholesterolemia in Norway during 1994-2009, a registry study
Eur J Prev Cardiol, 23 (18), 1962-1969
DOI 10.1177/2047487316666371, PubMed 27558979 -
Functional Effects of Schizophrenia-Linked Genetic Variants on Intrinsic Single-Neuron Excitability: A Modeling Study
Biol Psychiatry Cogn Neurosci Neuroimaging, 1 (1), 49-59
DOI 10.1016/j.bpsc.2015.09.002, PubMed 26949748 -
Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database
Gut, 66 (9), 1657-1664
DOI 10.1136/gutjnl-2016-311403, PubMed 27261338 -
Effects of Anthocyanins on CAG Repeat Instability and Behaviour in Huntington's Disease R6/1 Mice
PLoS Curr, 8
DOI 10.1371/currents.hd.58d04209ab6d5de0844db7ef5628ff67, PubMed 27540492 -
Inflammatory evidence for the psychosis continuum model
Psychoneuroendocrinology, 67, 189-97
DOI 10.1016/j.psyneuen.2016.02.011, PubMed 26923849 -
The prevalence of metabolic risk factors of atherosclerotic cardiovascular disease in Williams syndrome, Prader-Willi syndrome, and Down syndrome
J. Intellect. Dev. Dis., 41 (3), 187-196
DOI 10.3109/13668250.2016.1167845 -
[«A most strange instance of illness in several siblings»--first description of a rare neurological disease in 1830?]
Tidsskr Nor Laegeforen, 136 (5), 437-40
DOI 10.4045/tidsskr.15.0844, PubMed 26983149 -
A Nationwide Study of Multiple Endocrine Neoplasia Type 2A in Norway: Predictive and Prognostic Factors for the Clinical Course of Medullary Thyroid Carcinoma
Thyroid, 26 (9), 1225-38
DOI 10.1089/thy.2015.0673, PubMed 27400880 -
Role of ALKBH1 in the Core Transcriptional Network of Embryonic Stem Cells
Cell Physiol Biochem, 38 (1), 173-84
DOI 10.1159/000438619, PubMed 26765775 -
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2
Neuromuscul Disord, 26 (9), 570-5
DOI 10.1016/j.nmd.2016.06.457, PubMed 27450922 -
Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genes (Basel), 7 (8)
DOI 10.3390/genes7080041, PubMed 27472364 -
Conservation of Distinct Genetically-Mediated Human Cortical Pattern
PLoS Genet, 12 (7), e1006143
DOI 10.1371/journal.pgen.1006143, PubMed 27459196 -
Identification and characterization of two novel mutations in the LPL gene causing type I hyperlipoproteinemia
J Clin Lipidol, 10 (4), 816-823
DOI 10.1016/j.jacl.2016.02.015, PubMed 27578112 -
Two male sibs with severe micrognathia and a missense variant in MED12
Eur J Med Genet, 59 (8), 367-72
DOI 10.1016/j.ejmg.2016.06.001, PubMed 27286923 -
Performance Improvement in 503A Compounding Pharmacies: A PLAN FOR ASSESSMENT, IMPLEMENTATION, AND SUSTAINED SUCCESS
Int J Pharm Compd, 20 (1), 29-36
PubMed 27125054 -
Identification of a founder BRCA1 mutation in the Moroccan population
Clin Genet, 90 (4), 361-5
DOI 10.1111/cge.12747, PubMed 26864382 -
A founder mutation p.H701P identified as a major cause of SPG7 in Norway
Eur J Neurol, 23 (4), 763-71
DOI 10.1111/ene.12937, PubMed 26756429 -
Primary familial brain calcification in a Norwegian family, caused by a novel SLC20A2 gene mutation
J Neurol, 263 (3), 594-6
DOI 10.1007/s00415-016-8033-3, PubMed 26860091 -
cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data
BMC Genomics, 17, 51
DOI 10.1186/s12864-016-2374-2, PubMed 26764020 -
Transcriptomic changes in relation to early-life events in the gilthead sea bream (Sparus aurata)
BMC Genomics, 17, 506
DOI 10.1186/s12864-016-2874-0, PubMed 27461489 -
Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype
Genes (Basel), 7 (12)
DOI 10.3390/genes7120108, PubMed 27916860 -
Gene expression analysis supports tumor threshold over 2.0 cm for T-category breast cancer
EURASIP J Bioinform Syst Biol, 2016 (1), 6
DOI 10.1186/s13637-015-0034-5, PubMed 26900390 -
A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction
Mol Genet Genomic Med, 4 (6), 604-616
DOI 10.1002/mgg3.237, PubMed 27896283 -
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy
Neurology, 86 (10), 954-62
DOI 10.1212/WNL.0000000000002457, PubMed 26865513 -
EPAS1/HIF-2 alpha-mediated downregulation of tissue factor pathway inhibitor leads to a pro-thrombotic potential in endothelial cells
Biochim Biophys Acta, 1862 (4), 670-678
DOI 10.1016/j.bbadis.2016.01.017, PubMed 26826018 -
A comparative study of ChIP-seq sequencing library preparation methods
BMC Genomics, 17 (1), 816
DOI 10.1186/s12864-016-3135-y, PubMed 27769162 -
Arv1 promotes cell division by recruiting IQGAP1 and myosin to the cleavage furrow
Cell Cycle, 15 (5), 628-43
DOI 10.1080/15384101.2016.1146834, PubMed 27104745 -
Differentially Methylated DNA Regions in Monozygotic Twin Pairs Discordant for Rheumatoid Arthritis: An Epigenome-Wide Study
Front Immunol, 7, 510
DOI 10.3389/fimmu.2016.00510, PubMed 27909437 -
Prevalence of juvenile myoclonic epilepsy in people <30 years of age-A population-based study in Norway
Epilepsia, 58 (1), 105-112
DOI 10.1111/epi.13613, PubMed 27861775 -
The Endogenous Hallucinogen and Trace Amine N,N-Dimethyltryptamine (DMT) Displays Potent Protective Effects against Hypoxia via Sigma-1 Receptor Activation in Human Primary iPSC-Derived Cortical Neurons and Microglia-Like Immune Cells
Front Neurosci, 10, 423
DOI 10.3389/fnins.2016.00423, PubMed 27683542 -
Changes of 5-hydroxymethylcytosine distribution during myeloid and lymphoid differentiation of CD34+ cells
Epigenetics Chromatin, 9, 21
DOI 10.1186/s13072-016-0070-8, PubMed 27252783 -
VRK2 gene expression in schizophrenia, bipolar disorder and healthy controls
Br J Psychiatry, 209 (2), 114-20
DOI 10.1192/bjp.bp.115.161950, PubMed 26941264 -
Polymorphisms of the coagulation system and risk of cancer
Thromb Res, 140 Suppl 1, S49-54
DOI 10.1016/S0049-3848(16)30098-6, PubMed 27067978 -
Determinants of acquired activated protein C resistance and D-dimer in breast cancer
Thromb Res, 145, 78-83
DOI 10.1016/j.thromres.2016.08.003, PubMed 27505249 -
BsRADseq: screening DNA methylation in natural populations of non-model species
Mol Ecol, 25 (8), 1697-713
DOI 10.1111/mec.13550, PubMed 26818626 -
The roadmap for estimation of cell-type-specific neuronal activity from non-invasive measurements
Philos Trans R Soc Lond B Biol Sci, 371 (1705)
DOI 10.1098/rstb.2015.0356, PubMed 27574309 -
Cell type specificity of neurovascular coupling in cerebral cortex
Elife, 5
DOI 10.7554/eLife.14315, PubMed 27244241 -
FILTUS: a desktop GUI for fast and efficient detection of disease-causing variants, including a novel autozygosity detector
Bioinformatics, 32 (10), 1592-4
DOI 10.1093/bioinformatics/btw046, PubMed 26819469 -
Genetic overlap between multiple sclerosis and several cardiovascular disease risk factors
Mult Scler, 22 (14), 1783-1793
DOI 10.1177/1352458516635873, PubMed 26920376 -
Leveraging Genomic Annotations and Pleiotropic Enrichment for Improved Replication Rates in Schizophrenia GWAS
PLoS Genet, 12 (1), e1005803
DOI 10.1371/journal.pgen.1005803, PubMed 26808560 -
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations
PLoS One, 11 (3), e0150555
DOI 10.1371/journal.pone.0150555, PubMed 26974433 -
Studies of the autoinhibitory segment comprising residues 31-60 of the prodomain of PCSK9: Possible implications for the mechanism underlying gain-of-function mutations
Mol Genet Metab Rep, 9, 86-93
DOI 10.1016/j.ymgmr.2016.11.003, PubMed 27896130 -
The Association between Hair Cortisol and Self-Reported Symptoms of Depression in Pregnant Women
PLoS One, 11 (9), e0161804
DOI 10.1371/journal.pone.0161804, PubMed 27584584 -
Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing
J Allergy Clin Immunol, 138 (4), 1142-1151.e2
DOI 10.1016/j.jaci.2016.05.035, PubMed 27484032 -
Extensive sequencing of seven human genomes to characterize benchmark reference materials
Sci Data, 3, 160025
DOI 10.1038/sdata.2016.25, PubMed 27271295
Publications 2015
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A 19-year-old man with relapsing bilateral pneumothorax, hemoptysis, and intrapulmonary cavitary lesions diagnosed with vascular Ehlers-Danlos syndrome and a novel missense mutation in COL3A1
Chest, 147 (5), e166-e170
DOI 10.1378/chest.13-3002, PubMed 25940258 -
Correction: Abundant Genetic Overlap between Blood Lipids and Immune-Mediated Diseases Indicates Shared Molecular Genetic Mechanisms
PLoS One, 10 (5), e0128048
DOI 10.1371/journal.pone.0128048, PubMed 25978331 -
Correction: Improved Detection of Common Variants Associated with Schizophrenia and Bipolar Disorder Using Pleiotropy-Informed Conditional False Discovery Rate
PLoS Genet, 11 (11), e1005544
DOI 10.1371/journal.pgen.1005544, PubMed 26540268 -
Genome-wide association study identifies common variants associated with pharmacokinetics of psychotropic drugs
J Psychopharmacol, 29 (8), 884-91
DOI 10.1177/0269881115584469, PubMed 25944848 -
Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance
Am J Med Genet A, 167A (9), 2052-64
DOI 10.1002/ajmg.a.37120, PubMed 26097203 -
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform
Hum Mol Genet, 24 (20), 5845-54
DOI 10.1093/hmg/ddv305, PubMed 26220973 -
DESIGN OF A REFERENCE HANDLING SYSTEM FOR CLINICAL DNA SEQUENCING ANALYSIS
PROCEEDINGS OF THE INTERNATIONAL CONFERENCES ON E-HEALTH 2015 E-COMMERCE AND DIGITAL MARKETING 2015 AND INFORMATION SYSTEMS POST-IMPLEMENTATION AND CHANGE MANAGEMENT 2015, 79-87 -
Results of comprehensive diagnostic work-up in 'idiopathic' dilated cardiomyopathy
Open Heart, 2 (1), e000271
DOI 10.1136/openhrt-2015-000271, PubMed 26468400 -
Haploinsufficiency of ANO6, NELL2 and DBX2 in a boy with intellectual disability and growth delay
Am J Med Genet A, 167A (8), 1890-6
DOI 10.1002/ajmg.a.37079, PubMed 25846056 -
Large-scale genomics unveil polygenic architecture of human cortical surface area
Nat Commun, 6, 7549
DOI 10.1038/ncomms8549, PubMed 26189703 -
The association of PTPN22 rs2476601 with juvenile idiopathic arthritis is specific to females
Genes Immun, 16 (7), 495-8
DOI 10.1038/gene.2015.32, PubMed 26291515 -
The chemical chaperone sodium 4-phenylbutyrate improves the secretion of the protein CA267T mutant in CHO-K1 cells trough the GRASP55 pathway
Cell Biosci, 5, 57
DOI 10.1186/s13578-015-0048-4, PubMed 26457178 -
Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1
Nat Commun, 6, 7146
DOI 10.1038/ncomms8146, PubMed 25994336 -
Genetic variations in the annexin A5 gene and the risk of pregnancy-related venous thrombosis
J Thromb Haemost, 13 (3), 409-13
DOI 10.1111/jth.12817, PubMed 25495894 -
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1
J Clin Immunol, 36 (1), 73-84
DOI 10.1007/s10875-015-0214-9, PubMed 26604104 -
Polygenic Overlap Between C-Reactive Protein, Plasma Lipids, and Alzheimer Disease
Circulation, 131 (23), 2061-2069
DOI 10.1161/CIRCULATIONAHA.115.015489, PubMed 25862742 -
Mixtures with relatives and linked markers
Int J Legal Med, 130 (3), 621-34
DOI 10.1007/s00414-015-1288-x, PubMed 26614310 -
Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2
Eur J Med Genet, 58 (11), 624-8
DOI 10.1016/j.ejmg.2015.10.005, PubMed 26475232 -
MicroRNAs enrichment in GWAS of complex human phenotypes
BMC Genomics, 16 (1), 304
DOI 10.1186/s12864-015-1513-5, PubMed 25884492 -
Treatment of infertility does not increase the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation
Fertil Steril, 105 (3), 781-785
DOI 10.1016/j.fertnstert.2015.11.034, PubMed 26698676 -
Investigation of the genotype III to genotype I shift in Japanese encephalitis virus and the impact on human cases
Virol Sin, 30 (4), 277-89
DOI 10.1007/s12250-015-3621-4, PubMed 26311492 -
Association between Genetic Variation in the Oxytocin Receptor Gene and Emotional Withdrawal, but not between Oxytocin Pathway Genes and Diagnosis in Psychotic Disorders
Front Hum Neurosci, 9, 9
DOI 10.3389/fnhum.2015.00009, PubMed 25667571 -
30-Day Survival Probabilities as a Quality Indicator for Norwegian Hospitals: Data Management and Analysis
PLoS One, 10 (9), e0136547
DOI 10.1371/journal.pone.0136547, PubMed 26352600 -
Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1
Clin Genet, 89 (2), 182-6
DOI 10.1111/cge.12612, PubMed 25970827 -
Ten modifiers of BRCA1 penetrance validated in a Norwegian series
Hered Cancer Clin Pract, 13 (1), 14
DOI 10.1186/s13053-015-0035-0, PubMed 26052370 -
Common genetic variants influence human subcortical brain structures
Nature, 520 (7546), 224-9
DOI 10.1038/nature14101, PubMed 25607358 -
Identification of rare high-risk copy number variants affecting the dopamine transporter gene in mental disorders
Nord J Psychiatry, 70 (4), 276-9
DOI 10.3109/08039488.2015.1095944, PubMed 26559242 -
Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody
Circ Cardiovasc Genet, 8 (6), 823-31
DOI 10.1161/CIRCGENETICS.115.001129, PubMed 26374825 -
A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation
Eur J Med Genet, 58 (8), 387-91
DOI 10.1016/j.ejmg.2015.06.003, PubMed 26116559 -
Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report
Clin Case Rep, 4 (2), 177-81
DOI 10.1002/ccr3.434, PubMed 26862418 -
The Influence of the Autoimmunity-Associated Ancestral HLA Haplotype AH8.1 on the Human Gut Microbiota: A Cross-Sectional Study
PLoS One, 10 (7), e0133804
DOI 10.1371/journal.pone.0133804, PubMed 26207384 -
Genome-wide autozygosity is associated with lower general cognitive ability
Mol Psychiatry, 21 (6), 837-43
DOI 10.1038/mp.2015.120, PubMed 26390830 -
A Loss-of-Function Variant in a Minor Isoform of ANK3 Protects Against Bipolar Disorder and Schizophrenia
Biol Psychiatry, 80 (4), 323-330
DOI 10.1016/j.biopsych.2015.09.021, PubMed 26682468 -
Microarray Analysis of Copy Number Variants on the Human Y Chromosome Reveals Novel and Frequent Duplications Overrepresented in Specific Haplogroups
PLoS One, 10 (8), e0137223
DOI 10.1371/journal.pone.0137223, PubMed 26322892 -
A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1
PLoS One, 10 (7), e0131637
DOI 10.1371/journal.pone.0131637, PubMed 26154504 -
Correction: A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1
PLoS One, 10 (8), e0136011
DOI 10.1371/journal.pone.0136011, PubMed 26270546 -
New data and an old puzzle: the negative association between schizophrenia and rheumatoid arthritis
Int J Epidemiol, 44 (5), 1706-21
DOI 10.1093/ije/dyv136, PubMed 26286434 -
Alternative splicing of placental lactogen (CSH2) in somatotroph pituitary adenomas
Neuro Endocrinol Lett, 36 (2), 136-42
PubMed 26071582 -
High-throughput T-cell receptor sequencing across chronic liver diseases reveals distinct disease-associated repertoires
Hepatology, 63 (5), 1608-19
DOI 10.1002/hep.28116, PubMed 26257205 -
Combined inhibition of the cell cycle related proteins Wee1 and Chk1/2 induces synergistic anti-cancer effect in melanoma
BMC Cancer, 15, 462
DOI 10.1186/s12885-015-1474-8, PubMed 26054341 -
Nontesticular cancers in relatives of testicular germ cell tumor (TGCT) patients from multiple-case TGCT families
Cancer Med, 4 (7), 1069-78
DOI 10.1002/cam4.450, PubMed 25882629 -
Combinations of Genetic Data Present in Bipolar Patients, but Absent in Control Persons
PLoS One, 10 (11), e0143432
DOI 10.1371/journal.pone.0143432, PubMed 26587987