Megan Cummins Lancaster

The paper maps the functional landscape of KCNQ1 variants to identify pathogenic and benign variants, revealing their impact on arrhythmia risk and ion channel mechanisms.

The paper develops a polygenic risk score for baseline QTc and shows it predicts sotalol-induced QT prolongation in a cohort of healthy subjects.

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

The paper evaluates computational predictors for rare variant burden tests and identifies two top predictors that enhance gene-trait association discovery in the UK Biobank.

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.

This paper develops a method to identify undiagnosed carriers of a rare Mendelian disease variant by detecting distant familial relatedness in biobanks.