Sharlene M. Day

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.

The paper reclassifies genetic variants in HCM patients using a large registry, finding 10% of variants were reclassified, with most VUS unlikely to be causal.

This study identifies pathogenic MYBPC3 missense variants in HCM patients and shows they disrupt protein interactions and alter proximity to thin-filament proteins.

This study uses human living myocardial slices to examine how sodium glucose co-transporter inhibitors affect myocardial work in hypertrophic cardiomyopathy under varying loading conditions.

The paper integrates genomic and structural data to identify variant intolerance regions in cardiac sarcomere genes and links them to disease mechanisms in hypertrophic cardiomyopathy.

This study identifies differentially expressed lncRNAs in a mouse HCM model and prioritizes them using cross-species conservation and micropeptide coding potential.

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 reports a rare splice-site variant in TNNT2 found in Oceanian ancestry individuals, highlighting the need for diverse genomic datasets to avoid misclassification of variants.

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.

The paper uses STRUM to predict subdomain stability in MYBPC3 variants, showing that variants causing misfolding are associated with higher adverse event rates in HCM patients.

This paper introduces CardioBoost, a disease-specific variant classifier for inherited cardiac conditions, showing improved accuracy in predicting pathogenicity compared to genome-wide tools.

The paper quantifies variant pathogenicity in hypertrophic cardiomyopathy using etiological fraction, increasing actionable variant detection by 14-20%.