Loren R. Vanags

The paper uses patient-derived iPSC-CMs to show that polygenic scores influence cardiac electrophysiology and drug response in Long QT Syndrome.

The paper evaluates RYR2-CPVT missense variants using Bayesian penetrance analysis and finds it outperforms existing tools.

The paper introduces EFP-Analyzer, a software tool for analyzing extracellular field potentials from iPSC-derived cardiomyocytes, showing it accurately measures intervals and detects drug or mutation effects.

The paper generates hiPSC lines from patients with extreme polygenic scores for QT interval to study LQTS genetic and cellular complexity.

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

This paper introduces a high-throughput method to screen KCNH2 variants for trafficking defects, validating it with multiple assays and showing its utility for identifying loss-of-function variants.