Human genetics
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- Endocannabinoid System Genes in Dementia: A Systematic Mendelian Randomization Study of Functional Variants and Tissue-Specific Expression Across Clinical, Molecular, and Neuroimaging Phenotypes
- Epigenetic misprogramming of progenitor cells links transient viral infection to chronic diseases across tissues
- Genetic discovery using deep learning-derived optic nerve integrity phenotypes
- Multi-ancestry MHC-pQTL mapping reveals disease-linked HLA protein networks and shared genetic architecture
- Integrative analysis reveals regulatory effects of tandem repeat expansions in tetralogy of Fallot.
- Genetic architecture of lipoma susceptibility implicates telomere biology
- Sex-aware Cross-tissue Regulatory Transformer Identified Sexually Dimorphic Alzheimer's Disease Risk Loci and Causal Cellular Circuit
- Rare extreme polygenic risk scores strongly indicate Alzheimer's disease risk
- Genetic mechanisms of mitotic error in 840,853 blood genomes
- Integrated 3D light sheet and 2D multiplex imaging for deep histological characterization of somatic mouse glioblastoma
- Empirically calibrated allele frequency thresholds for ACMG BA1, BS1 and PM2 evidence criteria
- Shared genetic architecture between brain iron deposition and Alzheimer's disease
- Disease progression Mendelian randomization of risk factors for kidney function decline in chronic kidney disease and the general population
- Large-Scale EHR-Based Phenotyping of an FMR1 Premutation Cohort at a Referral Hospital
- Targeted knockdown of Smn in muscle stem cells induces non-cell autonomous loss of motor neurons
- DPP9 modulates RPA1 stability and temozolomide sensitivity through RFWD3 Nuclear localization in glioma.
- Expanded Access use of Intravenous Gene Transfer with AAV9-GLB1 in a Juvenile GM1 Gangliosidosis Participant
- Thoracic Aortic Disease in Genetic Syndromes Beyond Established Aortopathy Genes
- Posttraumatic Stress Disorder Epigenome-Wide Association Studies in the Million Veteran Program
- Metabolomic profiling in treated mucopolysaccharidosis IH reveals candidate biomarkers and adjunctive therapeutic pathways
- Familial, neuropathological and cellular analysis identify ARPP21 as a major amyotrophic lateral sclerosis associated gene in French cohorts
- Enhanced power and transferability for genetics-driven metabolomic biomarker discovery in admixed American cohorts
- Modeling pathway overlap increases accuracy of GWAS gene set enrichment
- X-Admix: An Interpretable Multimodal Cross-Attention Framework for Integrating Genotype, Local Ancestry, and Social Drivers of Health in Admixed African American Populations
- Whole-genome sequencing in mitral valve prolapse: an exploratory study on genes associated with mitral valve prolapse and cardiac arrhythmias