Michael John Ackerman

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

This study identifies sex-specific differences in multi-omics profiles of obstructive hypertrophic cardiomyopathy patients compared to controls.

The paper identifies miRNA and histone modifications as contributors to transcriptional downregulation of hypertrophy pathways in obstructive hypertrophic cardiomyopathy.

The paper identifies a novel SCN5A variant, E171Q, that creates a gating pore current by neutralizing a negative charge in the S2 helix, leading to MEPPC and altered voltage dependence.

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 identifies SORBS2 as a new susceptibility gene for arrhythmogenic right ventricular cardiomyopathy (ARVC) using zebrafish and mouse models and human patient sequencing.