Michelle Michels

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 shows that microtubule detyrosination in HCM causes nuclear shape changes and YAP1 signaling, which can be reversed by inhibiting detyrosination.

The paper identifies altered microtubule post-translational modifications in hypertrophic cardiomyopathy and shows protein kinase A modulates microtubule repolymerization in patient-derived hiPSC-CMs.

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 evaluates polygenic scores for hypertrophic cardiomyopathy (HCM) in the general population and clinical settings, showing increased risk with higher scores and potential for clinical application.

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%.

This study combines structural models of myosin, exome sequencing, and phenotypic data to identify disease-associated variants in specific structural regions of β-cardiac myosin linked to HCM severity.