Kyla E. Dunn

This study assesses TNNI3 variant effects on hiPSC-CM physiology and links these findings to disease severity in cardiomyopathy patients.

The paper validates an in vitro SCN5A Brugada Syndrome assay to reclassify variants of uncertain significance as pathogenic or benign.

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 investigates how mono- and bi-allelic ACTN2 mutations cause cardiomyopathy through distinct mechanisms using patient-derived iPSC-cardiomyocytes and CRISPR-Cas9 editing.