Multi-site validation of a functional assay to adjudicate SCN5A Brugada Syndrome-associated variants
Joanne G. Ma, Matthew J. O’Neill, Ebony Richardson, Kate L. Thomson, Jodie Ingles, Ayesha Muhammad, Joseph F. Solus, Giovanni Davogustto, Katherine C. Anderson, Moore Benjamin Shoemaker, Andrew B. Stergachis, Brendan J. Floyd, Kyla E. Dunn, Victoria Nicole Parikh, Henry Chubb, , Andrew Michael Glazer
The paper validates an in vitro SCN5A Brugada Syndrome assay to reclassify variants of uncertain significance as pathogenic or benign.
Circulation Genomic and Precision Medicine · Jul 2, 2024Peer-reviewedGenetic & Genomic Medicine