Renae Judy

The paper identifies shared and distinct genetic architectures for cardiac structure and function using UK Biobank data, revealing common variants influencing multiple chambers and phenotypic variability.

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

This study evaluates polygenic risk scores for hernia susceptibility and finds they are associated with incisional hernia but do not improve clinical risk prediction beyond traditional factors.

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

This study identifies platelet traits as key risk factors for stroke using Mendelian Randomization and subclustering, revealing mechanisms involving platelet reactivity and endothelial cell adhesion.

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

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

This paper conducts a multi-ancestry time-to-event GWAS to identify genetic variants associated with incident cardiovascular disease in people with type 2 diabetes, finding three novel loci and confirming known CAD variants.

The paper identifies a FOG2 variant associated with coronary microvascular disease and shows it alters hypoxia-mediated gene transcription and angiogenesis.

This paper evaluates adding polygenic risk scores to the RECODe model for predicting cardiovascular outcomes in type 2 diabetes patients, finding no significant improvement in predictive performance.

This study identifies 135 genomic loci associated with venous thromboembolism risk through cross-ancestry GWAS and provides insights into biological pathways and potential therapeutic targets.

This study identifies 144 genetic loci associated with abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target through Mendelian Randomization and pre-clinical validation.

This study evaluates polygenic risk scores (PRS) for cancer prediction in a racially diverse biobank, finding moderate improvements in discriminatory accuracy for European ancestry but limited gains for African ancestry.

The paper evaluates gene burden tests for rare variants in MYBPC3 and MYH7 using exome data and EHRs, finding differing associations between pLOF and pDM variants and HCM.

This study identifies robust gene-phenotype associations by analyzing rare loss-of-function variants in exome-wide data linked to electronic health records.

Multi-ethnic type 2 diabetes (T2D) meta-analysis of 228,499 cases and 1,178,783 controls finds 318 previously unreported loci, 804 expression-colocalized genes, and 13 SNP-by-T2D vascular-outcome interactions.

The paper evaluates polygenic risk scores for psychiatric disorders in electronic health records, finding cross-trait associations and confirming genetic architecture from large consortia.

This study develops polygenic risk scores for cardio-renal-metabolic diseases in the Penn Medicine Biobank and finds limited predictive value in African ancestry individuals.