Joseph F. Solus

The paper uses automated patch clamp data to reclassify SCN5A variants in Brugada Syndrome, improving variant classification and penetrance stratification.

This paper introduces ParSE-seq, a multiplexed assay to assess splice-altering variants, showing high correlation between experimental and computational predictions.

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

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