Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation in TAB2-encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular Syndrome.
Jaeger P AckermanJohn A SmestadDavid J TesterMuhammad Yasir QureshiBeau A CrabbNancy J MendelsohnMichael J AckermanPublished in: Congenital heart disease (2016)
The combination of WES, genomic triangulation, and systems biology has uncovered perturbations in TGF-beta activated kinase 1 signaling as a novel pathogenic substrate for polyvalvular syndrome.