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Congenital heart disease (CHD) is the most common type of birth defect with family- and population-based studies supporting a strong genetic cause for CHD. The goal of this study was to determine whether a whole exome sequencing (WES) approach could identify pathogenic-segregating variants in multiplex CHD families.

Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease