Svati Hasmukh Shah

Immune Aging is an Independent Risk Factor for Cardiovascular Disease

The paper introduces IMM-AGE, a metric of immune-aging, and shows it independently predicts cardiovascular disease risk across multiple cohorts.

Comprehensive Comparison of a Genotype-Forward vs. Phenotype-Forward Approach for Monogenic Cardiovascular Diseases in the UK Biobank Cohort

This study compares genotype-forward and phenotype-forward approaches for detecting monogenic cardiovascular diseases in the UK Biobank, finding the genotype-forward method has a higher diagnostic yield.

A gene regulatory element modulates myosin expression and controls cardiomyocyte response to stress

The paper identifies a gene regulatory element that modulates MYH6 expression and influences cardiomyocyte response to stress.

Coupled myovascular expansion directs cardiac growth and regeneration

This study shows that coupled proliferation of cardiac endothelial cells and cardiomyocytes is essential for heart growth and regeneration, mediated by VEGF-VEGFR2 signaling.

A Phenome Wide Association Study of Severe COVID-19 Genetic Risk Variants

This study identifies novel comorbidities associated with genetic risk variants for severe COVID-19 using a PheWAS approach in large cohorts.

Heterozygous ATP-binding Cassette Transporter G5 Gene Deficiency and Risk of Coronary Artery Disease

This study investigates the impact of heterozygous ABCG5 LoF variants on LDL-C levels and CAD risk, finding a significant association with elevated LDL-C and doubled CAD risk.