Human genetics
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- Perspectives: what we are learning from factor XI/factor XIa inhibitor trials.
- Genetic Architecture and Sample Size Impact Relative Performance of Nonlinear Machine Learning and Standard Polygenic Risk Scores
- Age-related clonal hematopoiesis and mosaic sex chromosome loss define distinct systemic proteomic programs and disease vulnerabilities
- Evaluating Mean Platelet Volume in relation to Disease Severity in Paediatric Sickle Cell Anaemia: A Cross-Sectional Study in Kwara State, North-Central Nigeria
- Genomic Architecture of Migraine: A Multi ancestry GWAS Meta analysis of 2.5 Million Participants
- Development of phenothiazine-based inhibitors towards drug-resistant glioblastoma
- Autism mutations rewire protein interaction networks to drive neurodevelopmental pathology
- Loss of RUBCN causes autophagy overdrive in a neurodevelopmental disorder with age-dependent neurodegeneration
- Investigating adiposity in childhood and adulthood on later life sleep health: a lifecourse Mendelian randomization study
- Selection and surveillance of 5S ribosomal RNA genes in human populations
- Paroxysmal Kinesigenic Dyskinesia and Progressive Ataxia‐Spasticity Syndrome Caused by a Biallelic Variant in KCNJ10
- ICONIC: An R Package for Integrating Instrumental Variable- and Negative-Control-Informed Causal Discovery and Diagnostics in Multiomic Studies
- A germline KDM3C polymorphism impairs DNA repair and sensitizes to chemoradiotherapy
- Immune cell–specific SMN expression and sustained immune alterations in treated spinal muscular atrophy
- Cyanosis and extensive erythroid dysplasia in a young adult with hemoglobin M-Hyde Park (Akita)
- BIN1 overexpression rescues cardiac but not skeletal muscle defects in a mouse model of caveolinopathy
- A Curated Pharmacogenomic Allele Catalog for Sub-Saharan African Populations
- Young people with obesity and rare disease - genotypes, phenotypes and healthcare use
- A 515,579-Genome Reference Panel Improves Rare-Variant Imputation Across Multiple Underrepresented Populations
- Fine-mapping HLA-II haplotypes in Alzheimer's disease and healthy longevity reveals distinct associations with microglial HLA-II load and neuropathology
- A Framework For Large-Scale Reconstruction Of Extended Pedigrees To Facilitate Gene Discovery In ALS
- Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin‐Related Congenital Myopathy
- Methylation-driven Cancer Genes and Methylation Profiling in Glioma: A Comparative Study between East Asian and non-Hispanic White Populations
- Mesenchymal stromal cells immunosuppress osteoarthritis synovial fluid modulated monocytes via IL-6 and CCL2.
- Polygenic and familial contributions to antidepressant continuation, switching, discontinuation and augmentation in the All of Us and Pharmlines cohorts