Publications
Publications published since 2005 from OUS - Department of Medical Genetics
1682 publications found (only first 1000 shown)
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 -
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 -
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 -
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 (in press)
DOI 10.1093/schbul/sbad074, PubMed 37262330 -
[Not Available]
Tidsskr Nor Laegeforen, 143 (8)
DOI 10.4045/tidsskr.22.0650, PubMed 37254975 -
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 -
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 -
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 -
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 -
Correction to: Claudin-10 is a new candidate prognostic marker in metastatic high-grade serous carcinoma
Virchows Arch (in press)
DOI 10.1007/s00428-023-03567-w, PubMed 37261507 -
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 -
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 -
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 -
Shared genetic loci between Alzheimer's disease and multiple sclerosis: Crossroads between neurodegeneration and immune system
Neurobiol Dis, 106174 (in press)
DOI 10.1016/j.nbd.2023.106174, PubMed 37286172 -
OnTarget: in silico design of MiniPromoters for targeted delivery of expression
Nucleic Acids Res (in press)
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
DOI 10.3389/fimmu.2022.1092028, PubMed 36741401 -
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 -
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 -
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 -
Genome-wide Association Analysis of Schizophrenia and Vitamin D Levels Shows Shared Genetic Architecture and Identifies Novel Risk Loci
Schizophr Bull (in press)
DOI 10.1093/schbul/sbad063, PubMed 37163672 -
Associations Between Symptoms of Premenstrual Disorders and Polygenic Liability for Major Psychiatric Disorders
JAMA Psychiatry (in press)
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, 107113 (in press)
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 -
Identification of novel genomic risk loci shared between common epilepsies and psychiatric disorders
Brain (in press)
DOI 10.1093/brain/awad038, PubMed 36757824 -
Rare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence
Nat Hum Behav (in press)
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
medRxiv
DOI 10.1101/2023.02.14.23285913, PubMed 36865328 -
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 -
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 -
A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis
Brain (in press)
DOI 10.1093/brain/awad086, PubMed 36917474 -
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 -
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 -
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 (in press)
DOI 10.1016/j.psychres.2023.115217, PubMed 37146461 -
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 (in press)
DOI 10.1038/s41380-023-01944-0, PubMed 36653674 -
Decreased serum concentrations of antiseizure medications in children with drug resistant epilepsy following treatment with ketogenic diet
Epilepsia Open (in press)
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, e2157 (in press)
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 (in press)
DOI 10.1007/s10238-023-01024-1, PubMed 36826611 -
LDL cholesterol targets rarely achieved in familial hypercholesterolemia patients: A sex and gender-specific analysis
Atherosclerosis (in press)
DOI 10.1016/j.atherosclerosis.2023.03.022, PubMed 37080805 -
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 -
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 -
High-resolution alignment of single-cell and spatial transcriptomes with CytoSPACE
Nat Biotechnol (in press)
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 -
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 -
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 -
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
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 -
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 (in press)
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 -
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
DOI 10.1093/bioinformatics/btab569, PubMed 34358288 -
Erratum to: Assessing heterogeneity in spatial data using the HTA index with applications to spatial transcriptomics and imaging
Bioinformatics, 37 (22), 4296
DOI 10.1093/bioinformatics/btab692, PubMed 34718412 -
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
DOI 10.1186/s13058-021-01450-7, PubMed 34407845 -
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
DOI 10.1158/1055-9965.EPI-20-0924, PubMed 33500318 -
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)
DOI 10.1017/S0033291721000179, PubMed 33653435 -
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
DOI 10.1038/s41416-021-01432-8, PubMed 34341517 -
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
DOI 10.1002/jmd2.12240, PubMed 34765399 -
Identification of pleiotropy at the gene level between psychiatric disorders and related traits
Transl Psychiatry, 11 (1), 410
DOI 10.1038/s41398-021-01530-4, PubMed 34326310 -
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
DOI 10.1038/s41436-021-01306-7, PubMed 34522029 -
Sex differences in disease progression and arrhythmic risk in patients with arrhythmogenic cardiomyopathy
Europace, 23 (7), 1084-1091
DOI 10.1093/europace/euab077, PubMed 33829244 -
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
DOI 10.1016/j.ajhg.2021.04.008, PubMed 33909990 -
Positive response to imatinib in PDGFRB-related Kosaki overgrowth syndrome
Am J Med Genet A, 185 (8), 2597-2601
DOI 10.1002/ajmg.a.62264, PubMed 33979467 -
Extensive bidirectional genetic overlap between bipolar disorder and cardiovascular disease phenotypes
Transl Psychiatry, 11 (1), 407
DOI 10.1038/s41398-021-01527-z, PubMed 34301917 -
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)
DOI 10.3390/cancers13184651, PubMed 34572879 -
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
DOI 10.1186/s13023-021-02066-y, PubMed 34641933 -
Challenges to Bringing Personalized Medicine to a Low-Resource Setting in Peru
Int J Environ Res Public Health, 18 (4)
DOI 10.3390/ijerph18041470, PubMed 33557277 -
Histological Features of Sporadic and Familial Testicular Germ Cell Tumors Compared and Analysis of Age-Related Changes of Histology
Cancers (Basel), 13 (7)
DOI 10.3390/cancers13071652, PubMed 33916078 -
A human iPSC-astroglia neurodevelopmental model reveals divergent transcriptomic patterns in schizophrenia
Transl Psychiatry, 11 (1), 554
DOI 10.1038/s41398-021-01681-4, PubMed 34716291 -
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
DOI 10.1002/hbm.25354, PubMed 33615640 -
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
DOI 10.1042/BCJ20200867, PubMed 34115095 -
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
DOI 10.1007/s10709-021-00113-x, PubMed 33515402 -
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
DOI 10.1016/j.sleep.2021.07.024, PubMed 34388506 -
High nocturnal sleep fragmentation is associated with low T lymphocyte P2Y11 protein levels in narcolepsy type 1
Sleep, 44 (8)
DOI 10.1093/sleep/zsab062, PubMed 33710305 -
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
DOI 10.1007/s00439-021-02379-9, PubMed 34652576 -
A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer's disease
Nat Genet, 53 (9), 1276-1282
DOI 10.1038/s41588-021-00921-z, PubMed 34493870 -
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
DOI 10.1038/s41588-021-00977-x, PubMed 34773122 -
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
DOI 10.1111/add.15680, PubMed 34472679 -
Ultralow amounts of DNA from long-term archived serum samples produce high-quality methylomes
Clin Epigenetics, 13 (1), 107
DOI 10.1186/s13148-021-01097-3, PubMed 33980276 -
Association of Birth Asphyxia With Regional White Matter Abnormalities Among Patients With Schizophrenia and Bipolar Disorders
JAMA Netw Open, 4 (12), e2139759
DOI 10.1001/jamanetworkopen.2021.39759, PubMed 34928356 -
Fine mapping of the HLA locus in Parkinson's disease in Europeans
NPJ Parkinsons Dis, 7 (1), 84
DOI 10.1038/s41531-021-00231-5, PubMed 34548497 -
Development and Characterization of SYBR Green I Based RT-PCR Assay for Detection of Omsk Hemorrhagic Fever Virus
Virol Sin, 36 (6), 1644-1647
DOI 10.1007/s12250-021-00389-5, PubMed 34076867 -
Novel associations between parental and newborn cord blood metabolic profiles in the Norwegian Mother, Father and Child Cohort Study
BMC Med, 19 (1), 91
DOI 10.1186/s12916-021-01959-w, PubMed 33849542 -
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
DOI 10.1038/s41598-020-61018-x, PubMed 32132611 -
Shared Genetic Loci Between Body Mass Index and Major Psychiatric Disorders: A Genome-wide Association Study
JAMA Psychiatry, 77 (5), 503-512
DOI 10.1001/jamapsychiatry.2019.4188, PubMed 31913414 -
Differential Glial Activation in Early Epileptogenesis-Insights From Cell-Specific Analysis of DNA Methylation and Gene Expression in the Contralateral Hippocampus
Front Neurol, 11, 573575
DOI 10.3389/fneur.2020.573575, PubMed 33312155 -
Prevalence of genetically verified familial hypercholesterolemia among young (<45 years) Norwegian patients hospitalized with acute myocardial infarction
J Clin Lipidol, 14 (3), 339-345
DOI 10.1016/j.jacl.2020.04.002, PubMed 32418822 -
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
DOI 10.1177/0333102420906835, PubMed 32056457 -
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
DOI 10.1016/j.ajhg.2020.04.005, PubMed 32386558 -
Genetic control of variability in subcortical and intracranial volumes
Mol Psychiatry, 26 (8), 3876-3883
DOI 10.1038/s41380-020-0664-1, PubMed 32047264 -
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
DOI 10.1038/s41467-020-17376-1, PubMed 32782260 -
Polygenic scores for schizophrenia and general cognitive ability: associations with six cognitive domains, premorbid intelligence, and cognitive composite score in individuals with a psychotic disorder and in healthy controls
Transl Psychiatry, 10 (1), 416
DOI 10.1038/s41398-020-01094-9, PubMed 33257657 -
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome
Hum Mutat, 41 (12), 2179-2194
DOI 10.1002/humu.24127, PubMed 33131181 -
Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia
Ann Intern Med, 173 (12), 989-1001
DOI 10.7326/M20-1443, PubMed 32894695 -
PET molecular imaging of phosphodiesterase 10A: An early biomarker of Huntington's disease progression
Mov. Disord., 35 (4), 606-615
DOI 10.1002/mds.27963 -
High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study
Orphanet J Rare Dis, 15 (1), 123
DOI 10.1186/s13023-020-01397-6, PubMed 32450891 -
Correction to: High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study
Orphanet J Rare Dis, 15 (1), 342
DOI 10.1186/s13023-020-01636-w, PubMed 33287852 -
The effect of infliximab in patients with chronic low back pain and Modic changes (the BackToBasic study): study protocol of a randomized, double blind, placebo-controlled, multicenter trial
BMC Musculoskelet Disord, 21 (1), 698
DOI 10.1186/s12891-020-03720-5, PubMed 33087100 -
The genetic architecture of the human cerebral cortex
Science, 367 (6484)
DOI 10.1126/science.aay6690, PubMed 32193296 -
Selective Stimulation of Duplicated Atlantic Salmon MHC Pathway Genes by Interferon-Gamma
Front Immunol, 11, 571650
DOI 10.3389/fimmu.2020.571650, PubMed 33123146 -
Mainstreamed genetic testing of breast cancer patients in two hospitals in South Eastern Norway
Fam Cancer, 19 (2), 133-142
DOI 10.1007/s10689-020-00160-x, PubMed 32002722 -
Rheumatoid Arthritis Patients, Both Newly Diagnosed and Methotrexate Treated, Show More DNA Methylation Differences in CD4+ Memory Than in CD4+ Naïve T Cells
Front Immunol, 11, 194
DOI 10.3389/fimmu.2020.00194, PubMed 32117312 -
Computationally efficient familywise error rate control in genome-wide association studies using score tests for generalized linear models
Scand. J. Stat., 47 (4), 1090-1113
DOI 10.1111/sjos.12451 -
An extension to: Systematic assessment of commercially available low-input miRNA library preparation kits
RNA Biol, 17 (9), 1284-1292
DOI 10.1080/15476286.2020.1761081, PubMed 32436772 -
Transcriptome profiling of human thymic CD4+ and CD8+ T cells compared to primary peripheral T cells
BMC Genomics, 21 (1), 350
DOI 10.1186/s12864-020-6755-1, PubMed 32393182 -
Genetic and clinical variations in a Norwegian sample diagnosed with Rett syndrome
Brain Dev, 42 (7), 484-495
DOI 10.1016/j.braindev.2020.03.008, PubMed 32336485 -
Runaway multi-allelic copy number variation at the α-defensin locus in African and Asian populations
Sci Rep, 10 (1), 9101
DOI 10.1038/s41598-020-65675-w, PubMed 32499510 -
The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23-a likely pathogenic variant with reduced penetrance?
Eur J Hum Genet, 28 (8), 1078-1086
DOI 10.1038/s41431-020-0612-1, PubMed 32203205 -
Does SARS-CoV-2 has a longer incubation period than SARS and MERS?
J Med Virol, 92 (5), 476-478
DOI 10.1002/jmv.25708, PubMed 32056235 -
HLA and sleep parameter associations in post-H1N1 narcolepsy type 1 patients and first-degree relatives
Sleep, 43 (3)
DOI 10.1093/sleep/zsz239, PubMed 31606740 -
Publisher Correction: Common brain disorders are associated with heritable patterns of apparent aging of the brain
Nat Neurosci, 23 (2), 295
DOI 10.1038/s41593-019-0553-6, PubMed 31848485 -
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants
Genet Med, 22 (11), 1920
DOI 10.1038/s41436-020-00944-7, PubMed 32814847 -
Prevalence and incidence rates of atrial fibrillation in Norway 2004-2014
Heart, 107 (3), 201-207
DOI 10.1136/heartjnl-2020-316624, PubMed 32820014 -
Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk
Am J Hum Genet, 107 (5), 837-848
DOI 10.1016/j.ajhg.2020.09.001, PubMed 33022221 -
Human Leukocyte Antigen alleles associated with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS)
Sci Rep, 10 (1), 5267
DOI 10.1038/s41598-020-62157-x, PubMed 32210306 -
Blood-based epigenetic estimators of chronological age in human adults using DNA methylation data from the Illumina MethylationEPIC array
BMC Genomics, 21 (1), 747
DOI 10.1186/s12864-020-07168-8, PubMed 33109080 -
Spatial transcriptomics inferred from pathology whole-slide images links tumor heterogeneity to survival in breast and lung cancer
Sci Rep, 10 (1), 18802
DOI 10.1038/s41598-020-75708-z, PubMed 33139755 -
Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk
Sci Rep, 10 (1), 9688
DOI 10.1038/s41598-020-65665-y, PubMed 32546843 -
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)
DOI 10.3390/cancers12020410, PubMed 32050665 -
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
DOI 10.1080/00016489.2020.1845397, PubMed 33320715 -
Intravenous Cyclophosphamide in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome. An Open-Label Phase II Study
Front Med (Lausanne), 7, 162
DOI 10.3389/fmed.2020.00162, PubMed 32411717 -
Atherogenic Lipid Ratios Related to Myeloperoxidase and C-Reactive Protein Levels in Psychotic Disorders
Front Psychiatry, 11, 672
DOI 10.3389/fpsyt.2020.00672, PubMed 32754070 -
Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action
JAMA Cardiol, 5 (2), 217-229
DOI 10.1001/jamacardio.2019.5173, PubMed 31895433 -
The Relationship Between Polygenic Risk Scores and Cognition in Schizophrenia
Schizophr Bull, 46 (2), 336-344
DOI 10.1093/schbul/sbz061, PubMed 31206164 -
The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research
F1000Res, 9
DOI 10.12688/f1000research.24887.1, PubMed 34367618 -
Phenotype-specific differences in polygenicity and effect size distribution across functional annotation categories revealed by AI-MiXeR
Bioinformatics, 36 (18), 4749-4756
DOI 10.1093/bioinformatics/btaa568, PubMed 32539089 -
Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness
Hum Mol Genet, 29 (13), 2218-2239
DOI 10.1093/hmg/ddaa108, PubMed 32504085 -
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
DOI 10.1016/j.biopsych.2020.01.026, PubMed 32201043 -
Identification of a novel polymorphism associated with reduced clozapine concentration in schizophrenia patients-a genome-wide association study adjusting for smoking habits
Transl Psychiatry, 10 (1), 198
DOI 10.1038/s41398-020-00888-1, PubMed 32555152 -
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
DOI 10.1186/s12881-020-01024-y, PubMed 32381069 -
A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1
Clin Dysmorphol, 29 (2), 107-110
DOI 10.1097/MCD.0000000000000314, PubMed 31929336 -
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
-
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 -
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
-
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 -
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
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
DOI 10.1080/16512235.2018.1553438, PubMed 30651725 -
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
DOI 10.18632/oncotarget.26059, PubMed 30237862 -
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
DOI 10.1136/esmoopen-2018-000328, PubMed 29682331 -
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 -
Association of orthostatic hypotension with incident dementia, stroke, and cognitive decline
Neurology, 91 (8), e759-e768
DOI 10.1212/WNL.0000000000006027, PubMed 30045960 -
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
DOI 10.1007/s10689-016-9939-8, PubMed 27804060 -
Human cytomegalovirus IE1 downregulates Hes1 in neural progenitor cells as a potential E3 ubiquitin ligase
PLoS Pathog, 13 (7), e1006542
DOI 10.1371/journal.ppat.1006542, PubMed 28750047 -
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features
Eur J Hum Genet, 25 (5), 552-559
DOI 10.1038/ejhg.2017.27, PubMed 28327570 -
Genetic risk scores and family history as predictors of schizophrenia in Nordic registers
Psychol Med, 48 (7), 1201-1208
DOI 10.1017/S0033291717002665, PubMed 28942743 -
Metabolic differentiation of surface and invasive cells of yeast colony biofilms revealed by gene expression profiling
BMC Genomics, 18 (1), 814
DOI 10.1186/s12864-017-4214-4, PubMed 29061122 -
Combinations of genetic variants associated with bipolar disorder
PLoS One, 12 (12), e0189739
DOI 10.1371/journal.pone.0189739, PubMed 29267373 -
Homozygous KIDINS220 loss-of-function variants in fetuses with cerebral ventriculomegaly and limb contractures
Hum Mol Genet, 26 (19), 3792-3796
DOI 10.1093/hmg/ddx263, PubMed 28934391 -
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
DOI 10.1186/s12885-017-3599-4, PubMed 28874130 -
Neurofibromatosis type 2: Multiple intra-dermal tumors in a toddler
Am J Med Genet A, 173 (5), 1447-1449
DOI 10.1002/ajmg.a.38177, PubMed 28371307 -
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
DOI 10.1186/s13256-017-1402-4, PubMed 28814329 -
Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report
Hered Cancer Clin Pract, 15, 18
DOI 10.1186/s13053-017-0078-5, PubMed 29046738 -
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