Christopher Semsarian

The paper evaluates the clinical validity of heterozygous ALPK3 loss-of-function variants as a cause of hypertrophic cardiomyopathy, finding strong gene-disease association with reduced penetrance.

This study identifies an ALPK3 truncation variant causing HCM and shows that mavacamten partially rescues cardiac contractility and calcium handling defects in a mouse model.

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.

This study shows that atenolol reduces cardiac-related mortality in a genetic mouse model of SUDEP by mitigating seizure and LQTS interactions.

This study explores family members' experiences with cardiogenetic evaluation after sudden cardiac death in young individuals, highlighting the need for better coordination of care and psychological support.

This paper evaluates a communication aid for returning genetic results in HCM families, finding no significant difference in communication effectiveness but noting higher knowledge scores in the intervention group.

This study uses whole-genome sequencing to identify regulatory and novel genic variants contributing to childhood cardiomyopathy.

The paper curates and classifies genetic evidence for dilated cardiomyopathy (DCM), identifying 19 genes with strong or moderate evidence and highlighting gaps in understanding.

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 study surveys healthcare professionals on postmortem genetic testing practices for sudden cardiac death in young individuals, finding inconsistent access and variability in attitudes across regions.

The paper identifies loss-of-function KCNH2 variants as enriched in SUDEP patients compared to epilepsy controls, suggesting a genetic biomarker for SUDEP risk.

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