Publications (original articles or review articles) published in 2024 from OUS - Department of Medical Genetics
102 publications found
COSGAP: COntainerized Statistical Genetics Analysis Pipelines
Bioinform Adv, 4 (1), vbae067
DOI 10.1093/bioadv/vbae067, PubMed 38808072
Modeling of Mouse Experiments Suggests that Optimal Anti-Hormonal Treatment for Breast Cancer is Diet-Dependent
Bull Math Biol, 86 (4), 42
DOI 10.1007/s11538-023-01253-1, PubMed 38498130
Poor muscle health and cardiometabolic risks associated with antidepressant treatment
Obesity (Silver Spring), 32 (10), 1857-1869
DOI 10.1002/oby.24085, PubMed 39315407
Toxoplasma gondii infection associated with inflammasome activation and neuronal injury
Sci Rep, 14 (1), 5327
DOI 10.1038/s41598-024-55887-9, PubMed 38438515
Stroke and bleeding risk in atrial fibrillation with CHA2DS2-VASC risk score of one: the Norwegian AFNOR study
Eur Heart J, 45 (1), 57-66
DOI 10.1093/eurheartj/ehad659, PubMed 37995254
Integrative pan-cancer analysis reveals a common architecture of dysregulated transcriptional networks characterized by loss of enhancer methylation
PLoS Comput Biol, 20 (11), e1012565
DOI 10.1371/journal.pcbi.1012565, PubMed 39556603
Rare copy number variation in autoimmune Addison's disease
Front Immunol, 15, 1374499
DOI 10.3389/fimmu.2024.1374499, PubMed 38562931
Rare copy number variant analysis in case-control studies using snp array data: a scalable and automated data analysis pipeline
BMC Bioinformatics, 25 (1), 357
DOI 10.1186/s12859-024-05979-0, PubMed 39548362
The effects of oxytocin administration on social and routinized behaviors in autism: A preregistered systematic review and meta-analysis
Psychoneuroendocrinology, 167, 107067
DOI 10.1016/j.psyneuen.2024.107067, PubMed 38815399
The singular French PCSK9-p.Ser127Arg gain-of-function variant: A significant player in cholesterol levels from a 775-year-old common ancestor
Atherosclerosis, 399, 118596
DOI 10.1016/j.atherosclerosis.2024.118596, PubMed 39500114
The genetic landscape of basal ganglia and implications for common brain disorders
Nat Commun, 15 (1), 8476
DOI 10.1038/s41467-024-52583-0, PubMed 39353893
A novel saliva-based miRNA profile to diagnose and predict oral cancer
Int J Oral Sci, 16 (1), 14
DOI 10.1038/s41368-023-00273-w, PubMed 38368395
A stratified treatment algorithm in psychiatry: a program on stratified pharmacogenomics in severe mental illness (Psych-STRATA): concept, objectives and methodologies of a multidisciplinary project funded by Horizon Europe
Eur Arch Psychiatry Clin Neurosci (in press)
DOI 10.1007/s00406-024-01944-3, PubMed 39729102
Dissecting unique and common variance across body and brain health indicators using age prediction
Hum Brain Mapp, 45 (6), e26685
DOI 10.1002/hbm.26685, PubMed 38647042
Targeting chromosomal instability and aneuploidy in cancer
Trends Pharmacol Sci, 45 (3), 210-224
DOI 10.1016/j.tips.2024.01.009, PubMed 38355324
BRCA mutation testing and association with oncologic outcome and incidence of ovarian cancer in Norway
Int J Gynecol Cancer, 35 (2), 100029
DOI 10.1016/j.ijgc.2024.100029, PubMed 39971428
Flavonoids regulate LDLR through different mechanisms tied to their specific structures
J Lipid Res, 65 (5), 100539
DOI 10.1016/j.jlr.2024.100539, PubMed 38556050
Neural markers of error processing relate to task performance, but not to substance-related risks and problems and externalizing problems in adolescence and emerging adulthood
Dev Cogn Neurosci, 71, 101500
DOI 10.1016/j.dcn.2024.101500, PubMed 39729859
A dataset of 40 assembled and annotated transcriptomes from 34 species in Silene and related genera
Data Brief, 57, 111094
DOI 10.1016/j.dib.2024.111094, PubMed 39633972
shinyseg: a web application for flexible cosegregation and sensitivity analysis
Bioinformatics, 40 (5)
DOI 10.1093/bioinformatics/btae201, PubMed 38598476
Science around the world
Trends Mol Med, 30 (8), 699-701
DOI 10.1016/j.molmed.2024.06.013, PubMed 39648584
High-throughput sequencing of insect specimens with sub-optimal DNA preservation using a practical, plate-based Illumina-compatible Tn5 transposase library preparation method
PLoS One, 19 (3), e0300865
DOI 10.1371/journal.pone.0300865, PubMed 38517905
Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset
Am J Hum Genet, 111 (9), 2059-2069
DOI 10.1016/j.ajhg.2024.07.004, PubMed 39096911
The protein phosphatase EYA4 promotes homologous recombination (HR) through dephosphorylation of tyrosine 315 on RAD51
Nucleic Acids Res, 52 (3), 1173-1187
DOI 10.1093/nar/gkad1177, PubMed 38084915
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules
Science, 384 (6694), eadf5489
DOI 10.1126/science.adf5489, PubMed 38662826
An Optimized Method to Produce Human-Induced Pluripotent Stem Cell-Derived Limbal Stem Cells Easily Adaptable for Clinical Use
Stem Cells Dev, 34 (3-4), 49-60
DOI 10.1089/scd.2024.0172, PubMed 39689863
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome
Brain, 147 (5), 1822-1836
DOI 10.1093/brain/awae010, PubMed 38217872
Improving bioinformatics software quality through teamwork
Bioinformatics, 40 (11)
DOI 10.1093/bioinformatics/btae632, PubMed 39436982
The NEOLETRIB trial: neoadjuvant treatment with Letrozole and Ribociclib in ER-positive, HER2-negative breast cancer
Future Oncol, 20 (32), 2457-2466
DOI 10.1080/14796694.2024.2377531, PubMed 39073142
An integrated omics approach highlights how epigenetic events can explain and predict response to neoadjuvant chemotherapy and bevacizumab in breast cancer
Mol Oncol, 18 (8), 2042-2059
DOI 10.1002/1878-0261.13656, PubMed 38671580
Genomic analysis of intracranial and subcortical brain volumes yields polygenic scores accounting for variation across ancestries
Nat Genet, 56 (11), 2333-2344
DOI 10.1038/s41588-024-01951-z, PubMed 39433889
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly
Commun Biol, 7 (1), 831
DOI 10.1038/s42003-024-06466-1, PubMed 38977784
Homozygous TREM2 c.549del; p.(Leu184Serfs*5) variant causing Nasu-Hakola disease in three siblings in a consanguineous Iraqi family: Case report and review of literature
Mol Genet Genomic Med, 12 (6), e2476
DOI 10.1002/mgg3.2476, PubMed 38888203
Outcomes of 10 years of PSA screening for prostate cancer in Norwegian men with Lynch syndrome
Prostate, 84 (10), 945-953
DOI 10.1002/pros.24711, PubMed 38629217
Linking sarcopenia, brain structure and cognitive performance: a large-scale UK Biobank study
Brain Commun, 6 (2), fcae083
DOI 10.1093/braincomms/fcae083, PubMed 38510210
Large-scale brainstem neuroimaging and genetic analyses provide new insights into the neuronal mechanisms of hypertension
HGG Adv, 6 (1), 100392
DOI 10.1016/j.xhgg.2024.100392, PubMed 39663699
Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS)
Cancers (Basel), 16 (5)
DOI 10.3390/cancers16050953, PubMed 38473316
Bipolar patients display stoichiometric imbalance of gene expression in post-mortem brain samples
Mol Psychiatry, 29 (4), 1128-1138
DOI 10.1038/s41380-023-02398-0, PubMed 38351171
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease
Brain, 147 (4), 1197-1205
DOI 10.1093/brain/awad434, PubMed 38141063
The impact of hysterectomy on subsequent colonoscopy in women with Lynch Syndrome
Scand J Gastroenterol, 59 (8), 1015-1020
DOI 10.1080/00365521.2024.2366969, PubMed 38946231
Risk reducing mastectomy in Norwegian BRCA1/2 carriers
Eur J Surg Oncol, 51 (3), 109571 (in press)
DOI 10.1016/j.ejso.2024.109571, PubMed 39765192
Cortisol and C-reactive protein (CRP) regulation in severe mental disorders
Psychoneuroendocrinology, 172, 107272
DOI 10.1016/j.psyneuen.2024.107272, PubMed 39740359
Gene-based burden tests of rare germline variants identify six cancer susceptibility genes
Nat Genet, 56 (11), 2422-2433
DOI 10.1038/s41588-024-01966-6, PubMed 39472694
Charting the shared genetic architecture of Alzheimer's disease, cognition, and educational attainment, and associations with brain development
Neurobiol Dis, 203, 106750
DOI 10.1016/j.nbd.2024.106750, PubMed 39608471
Genetic testing for familial hypercholesterolemia in a Finnish cohort of patients with premature coronary artery disease and elevated LDL-C levels
Front Cardiovasc Med, 11, 1433042
DOI 10.3389/fcvm.2024.1433042, PubMed 39131706
Sex differences in early-onset atrial fibrillation in Norwegian primary care: a retrospective national database analysis
Open Heart, 11 (2)
DOI 10.1136/openhrt-2024-002695, PubMed 39164045
Genetic testing in early-onset atrial fibrillation
Eur Heart J, 45 (34), 3111-3123
DOI 10.1093/eurheartj/ehae298, PubMed 39028637
Dissecting the Shared Genetic Architecture of Common Epilepsies With Cortical Brain Morphology
Neurol Genet, 10 (3), e200143
DOI 10.1212/NXG.0000000000200143, PubMed 38817246
Unraveling the shared genetics of common epilepsies and general cognitive ability
Seizure, 122, 105-112
DOI 10.1016/j.seizure.2024.09.016, PubMed 39388989
Tracheobronchomalacia is common in children with primary ciliary dyskinesia-A case note review
Pediatr Pulmonol, 59 (12), 3560-3568
DOI 10.1002/ppul.27262, PubMed 39291788
Understanding the genetic complexity of puberty timing across the allele frequency spectrum
Nat Genet, 56 (7), 1397-1411
DOI 10.1038/s41588-024-01798-4, PubMed 38951643
Transcriptomic and proteomic analysis of the virulence inducing effect of ciprofloxacin on enterohemorrhagic Escherichia coli
PLoS One, 19 (5), e0298746
DOI 10.1371/journal.pone.0298746, PubMed 38787890
Deep learning for automated scoring of immunohistochemically stained tumour tissue sections - Validation across tumour types based on patient outcomes
Heliyon, 10 (13), e32529
DOI 10.1016/j.heliyon.2024.e32529, PubMed 39040241
Diverse mutant selection windows shape spatial heterogeneity in evolving populations
PLoS Comput Biol, 20 (2), e1011878
DOI 10.1371/journal.pcbi.1011878, PubMed 38386690
Polygenic liability for antipsychotic dosage and polypharmacy - a real-world registry and biobank study
Neuropsychopharmacology, 49 (7), 1113-1119
DOI 10.1038/s41386-023-01792-0, PubMed 38184734
How Real-World Data Can Facilitate the Development of Precision Medicine Treatment in Psychiatry
Biol Psychiatry, 96 (7), 543-551
DOI 10.1016/j.biopsych.2024.01.001, PubMed 38185234
Using rare genetic mutations to revisit structural brain asymmetry
Nat Commun, 15 (1), 2639
DOI 10.1038/s41467-024-46784-w, PubMed 38531844
Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study
Ann Clin Transl Neurol, 11 (7), 1819-1830
DOI 10.1002/acn3.52088, PubMed 38845467
Sex differences in DNA methylation variations according to ART conception-evidence from the Norwegian mother, father, and child cohort study
Sci Rep, 14 (1), 22904
DOI 10.1038/s41598-024-73845-3, PubMed 39358554
Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield
Sci Rep, 14 (1), 4306
DOI 10.1038/s41598-024-54866-4, PubMed 38383731
Genome-wide association analysis of treatment resistant schizophrenia for variant discovery and polygenic assessment
Hum Genomics, 18 (1), 108
DOI 10.1186/s40246-024-00673-x, PubMed 39334510
Coagulation factor V in breast cancer: a p53-regulated tumor suppressor and predictive marker for treatment response to chemotherapy
J Thromb Haemost, 22 (6), 1569-1582
DOI 10.1016/j.jtha.2024.02.008, PubMed 38382738
Germline polygenic risk scores are associated with immune gene expression signature and immune cell infiltration in breast cancer
Am J Hum Genet, 111 (10), 2150-2163
DOI 10.1016/j.ajhg.2024.08.009, PubMed 39270649
Student Suicide in India: An Analysis of Newspaper Articles (2019-2023)
Early Interv Psychiatry, 19 (1), e13616
DOI 10.1111/eip.13616, PubMed 39380363
Gene expression profiling in elderly patients with familial hypercholesterolemia with and without coronary heart disease
Atherosclerosis, 392, 117507
DOI 10.1016/j.atherosclerosis.2024.117507, PubMed 38663317
A mild skeletal phenotype with overlapping features of Miller syndrome and functional characterisation of two new variants of human dihydroorotate dehydrogenase
Heliyon, 10 (19), e38659
DOI 10.1016/j.heliyon.2024.e38659, PubMed 39430512
Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome
Genes (Basel), 15 (4)
DOI 10.3390/genes15040500, PubMed 38674434
Telomere biology and its maintenance in schizophrenia spectrum disorders: Exploring links to cognition
Schizophr Res, 272, 89-95
DOI 10.1016/j.schres.2024.08.011, PubMed 39208769
Genetic mechanisms for impaired synaptic plasticity in schizophrenia revealed by computational modeling
Proc Natl Acad Sci U S A, 121 (34), e2312511121
DOI 10.1073/pnas.2312511121, PubMed 39141354
Incidence of peritoneal cancer after oophorectomy among BRCA1 and BRCA2 mutation carriers
J Natl Cancer Inst, 116 (11), 1753-1760
DOI 10.1093/jnci/djae151, PubMed 38937272
The low-density lipoprotein receptor: Emerging post-transcriptional regulatory mechanisms
Atherosclerosis, 401, 119082
DOI 10.1016/j.atherosclerosis.2024.119082, PubMed 39700747
Truncating NFKB1 variants cause combined NLRP3 inflammasome activation and type I interferon signaling and predispose to necrotizing fasciitis
Cell Rep Med, 5 (4), 101503
DOI 10.1016/j.xcrm.2024.101503, PubMed 38593810
Identification of transcription factor co-binding patterns with non-negative matrix factorization
Nucleic Acids Res, 52 (18), e85
DOI 10.1093/nar/gkae743, PubMed 39217462
JASPAR 2024: 20th anniversary of the open-access database of transcription factor binding profiles
Nucleic Acids Res, 52 (D1), D174-D182
DOI 10.1093/nar/gkad1059, PubMed 37962376
Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA
Orphanet J Rare Dis, 19 (1), 213
DOI 10.1186/s13023-024-03196-9, PubMed 38778413
Differential levels of circulating RNAs prior to endometrial cancer diagnosis
Int J Cancer, 155 (5), 946-956
DOI 10.1002/ijc.34951, PubMed 38733362
An evolutionary timeline of the oxytocin signaling pathway
Commun Biol, 7 (1), 471
DOI 10.1038/s42003-024-06094-9, PubMed 38632466
Computational Model Predicts Patient Outcomes in Luminal B Breast Cancer Treated with Endocrine Therapy and CDK4/6 Inhibition
Clin Cancer Res, 30 (17), 3779-3787
DOI 10.1158/1078-0432.CCR-24-0244, PubMed 38922642
Advancing Research and Treatment: An Overview of Clinical Trials in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) and Future Perspectives
J Clin Med, 13 (2)
DOI 10.3390/jcm13020325, PubMed 38256459
Loss of chromosome cytoband 13q14.2 orchestrates breast cancer pathogenesis and drug response
Breast Cancer Res, 26 (1), 170
DOI 10.1186/s13058-024-01924-4, PubMed 39605038
Copy number alterations: a catastrophic orchestration of the breast cancer genome
Trends Mol Med, 30 (8), 750-764
DOI 10.1016/j.molmed.2024.04.017, PubMed 38772764
Cell-cell fusion in cancer: The next cancer hallmark?
Int J Biochem Cell Biol, 175, 106649
DOI 10.1016/j.biocel.2024.106649, PubMed 39186970
PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants
Hered Cancer Clin Pract, 22 (1), 20
DOI 10.1186/s13053-024-00292-6, PubMed 39334433
Elevated TFPI is a prognostic factor in hepatocellular carcinoma: Putative role of miR-7-5p and miR-1236-3p
Thromb Res, 241, 109073
DOI 10.1016/j.thromres.2024.109073, PubMed 38945092
Citalopram exposure of hESCs during neuronal differentiation identifies dysregulated genes involved in neurodevelopment and depression
Front Cell Dev Biol, 12, 1428538
DOI 10.3389/fcell.2024.1428538, PubMed 39055655
A PSA SNP associates with cellular function and clinical outcome in men with prostate cancer
Nat Commun, 15 (1), 9587
DOI 10.1038/s41467-024-52472-6, PubMed 39505858
Foetal Microchimerism Correlates With Foetal-Maternal Histocompatibility Both During Pregnancy and Postpartum
HLA, 104 (4), e15717
DOI 10.1111/tan.15717, PubMed 39435899
Molecular genetics in 1991 arrhythmia probands and 2782 relatives in Norway: Results from 17 years of genetic testing in a national laboratory
Clin Genet, 106 (5), 585-602
DOI 10.1111/cge.14593, PubMed 39073097
NLRP3 inflammasome mediates astroglial dysregulation of innate and adaptive immune responses in schizophrenia
Brain Behav Immun, 124, 144-156
DOI 10.1016/j.bbi.2024.11.030, PubMed 39617069
Elevated levels of peripheral and central nervous system immune markers reflect innate immune dysregulation in autism spectrum disorder
Psychiatry Res, 342, 116245
DOI 10.1016/j.psychres.2024.116245, PubMed 39481220
Cognitive and inflammatory heterogeneity in severe mental illness: Translating findings from blood to brain
Brain Behav Immun, 118, 287-299
DOI 10.1016/j.bbi.2024.03.014, PubMed 38461955
Identification of novel genomic loci for anxiety symptoms and extensive genetic overlap with psychiatric disorders
Psychiatry Clin Neurosci, 78 (12), 783-791
DOI 10.1111/pcn.13742, PubMed 39301620
The breast cancer coagulome in the tumor microenvironment and its role in prognosis and treatment response to chemotherapy
J Thromb Haemost, 22 (5), 1319-1335
DOI 10.1016/j.jtha.2024.01.003, PubMed 38237862
Abundant pleiotropy across neuroimaging modalities identified through a multivariate genome-wide association study
Nat Commun, 15 (1), 2655
DOI 10.1038/s41467-024-46817-4, PubMed 38531894
Benign breast tumors may arise on different immunological backgrounds
Mol Oncol, 18 (10), 2495-2509
DOI 10.1002/1878-0261.13655, PubMed 38757377
Comparison of transcriptome responses in blood cells of Atlantic salmon infected by three genotypes of Piscine orthoreovirus
Fish Shellfish Immunol, 157, 110088
DOI 10.1016/j.fsi.2024.110088, PubMed 39662648
Transcriptomics of early responses to purified Piscine orthoreovirus-1 in Atlantic salmon (Salmo salar L.) red blood cells compared to non-susceptible cell lines
Front Immunol, 15, 1359552
DOI 10.3389/fimmu.2024.1359552, PubMed 38420125
Clustering Schizophrenia Genes by Their Temporal Expression Patterns Aids Functional Interpretation
Schizophr Bull, 50 (2), 327-338
DOI 10.1093/schbul/sbad140, PubMed 37824720
Divergent epigenetic responses to perinatal asphyxia in severe mental disorders
Transl Psychiatry, 14 (1), 16
DOI 10.1038/s41398-023-02709-7, PubMed 38191519
Using birth-death processes to infer tumor subpopulation structure from live-cell imaging drug screening data
PLoS Comput Biol, 20 (3), e1011888
DOI 10.1371/journal.pcbi.1011888, PubMed 38446830
Polygenic score distribution differences across European ancestry populations: implications for breast cancer risk prediction
Breast Cancer Res, 26 (1), 189
DOI 10.1186/s13058-024-01947-x, PubMed 39734228
Heating up three cold cases in Norway using investigative genetic genealogy
Forensic Sci Int Genet, 76, 103217
DOI 10.1016/j.fsigen.2024.103217, PubMed 39787642