Lynn D. Hall

The paper uses functional assays to reclassify splice-altering variants in Brugada Syndrome and Long QT Syndrome genes, identifying pathogenic and benign classifications.

The paper shows that most SCN5A missense loss-of-function variants cause dominant negative effects and are associated with higher Brugada Syndrome risk.

This study reclassifies SCN5A variants using high-throughput patch clamping, finding most variants of uncertain significance are either benign or pathogenic.

The paper identifies HFE E168Q as a novel pathogenic variant associated with hereditary hemochromatosis using Phenotype Risk Scores and validates its mechanism through experimental assays.