Sarah A. Abramowitz

This study performs a multi-population GWAS meta-analysis of acute and chronic pancreatitis, identifying genetic loci and potential therapeutic targets.

This study identifies 243 genome-wide significant loci for hernia subtypes, reveals shared and distinct genetic factors, and identifies potential therapeutic targets.

The paper shows that statistical uncertainty explains disagreement in type 2 diabetes polygenic scores and proposes using uncertainty measures to improve risk prediction.

This study uses genomic structural equation modeling to identify genetic overlaps between psychiatric and physical illnesses, finding shared risk factors across multiple domains.

The paper evaluates proteomic and polygenic risk scores for disease prediction, finding proteomic scores outperform polygenic scores in most traits and show temporal responsiveness.

The paper identifies pleiotropic loci across 1,167 traits using GWAS meta-analysis and shows they are enriched for functional annotations and improve polygenic score predictions.

This study shows that angiographic CAD burden independently contributes to adverse cardiovascular outcomes, even when traditional risk factors are accounted for.

This study identifies 257 novel genetic loci associated with diverticular disease through a large GWAS, linking them to connective tissue and colonic motility mechanisms.

This study identifies 91 risk loci for gallstone disease through a trans-ancestry GWAS, including 37 novel loci, and links them to metabolic and liver-related traits.

The paper identifies CXCL12 as a genetic driver of coronary artery anatomy variation through GWAS and mouse models, showing its role in fetal coronary development.

This study evaluates the reliability of coronary artery disease polygenic risk scores across diverse populations, finding poor individual agreement despite equivalent population-level performance.

The paper investigates how mono- and bi-allelic ACTN2 mutations cause cardiomyopathy through distinct mechanisms using patient-derived iPSC-cardiomyocytes and CRISPR-Cas9 editing.