Manav Kapoor

The paper performs metabolomics exome and genome-wide association studies in Amish adults, identifying genetic variants linked to metabolites and cardiometabolic traits.

The paper identifies glial transcriptomic dysregulation and genetic risk in the cortex of individuals with Alcohol Use Disorder using single nuclei RNA-sequencing.

The paper identifies a NOTCH3 variant, p.Arg1231Cys, enriched in South Asians and strongly associated with stroke risk, highlighting the importance of genetic diversity in stroke research.

This paper presents the largest catalog of human protein-coding variation from 985,830 individuals, identifying rare variants and their functional implications for precision medicine.

The paper identifies rare coding variants in CHRNB2 associated with reduced smoking likelihood and links them to downstream smoking-related phenotypes.

This study identifies JADE1 as a novel genetic factor in tauopathy through genome-wide association and functional validation in human and Drosophila models.

The paper computes polygenic risk scores for COVID-19 severity in Indian sub-populations using GWAS summary statistics and finds a positive correlation between genetic risk scores and mortality.

The paper integrates GWAS data with multi-omics datasets to identify novel genes for alcohol use disorder and link them to neurodegenerative diseases.

This study identifies genetic variants shared between schizophrenia and alcohol use disorder, finding both convergent and divergent effects and evidence of brain tissue expression.

This study integrates Alzheimer’s disease GWAS with myeloid epigenomic data to identify risk enhancers and causal genes, implicating myeloid endolysosomal dysfunction in AD pathogenesis.

This study uses snRNA-seq to analyze transcriptomes of 16,000 nuclei from human prefrontal cortex in alcoholics and controls, identifying cell type-specific gene expression changes associated with alcohol dependence.

The paper identifies functional variants in human brains with alcohol use disorders by combining allele-specific expression analysis with high-throughput reporter assays.

This study identifies dysregulation of cholesterol and matrisome pathways in human APOE ε4 glia, linking them to Alzheimer's disease risk.

The paper identifies 129 differentially expressed genes in the PFC of alcoholics and links them to pathways and modules associated with alcohol dependence and consumption.

The paper analyzes rare coding variants in smoking and drinking behavior using exome chip data, finding that they contribute to phenotypic variation but require larger samples for individual variant associations.

The paper identifies a PILRA variant that reduces ligand binding and HSV-1 infection, potentially protecting against Alzheimer’s disease.

The paper constructs polygenic risk scores for sporadic late-onset Alzheimer's Disease and finds shared genetic architecture with familial and early-onset forms, showing varying odds ratios across cohorts.

This study identifies a haplotype lowering PU.1 expression in myeloid cells that delays Alzheimer’s disease onset by affecting gene expression and function.