Lia Crotti

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.

The paper compares the clinical impact of missense variants in CALM1, CALM2, and CALM3 genes by analyzing expression levels and translation efficiency in cardiac tissue.

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 paper evaluates how functional variant data and penetrance estimates improve risk stratification for LQTS in KCNH2 missense variant carriers.

The paper develops Bayesian models to estimate variant penetrance in Mendelian cardiac channelopathies, revealing continuous penetrance distributions and structural insights.

This study identifies sequential defects in cardiac lineage commitment and maturation in hypoplastic left heart syndrome using multi-omics approaches and iPSC modeling.