Article
Diagnostic Yield of Exome Sequencing in Patients With Congenital Heart Disease From Southern Africa.
Circulation. Genomic and precision medicine - 1 Aug 2026
Spracklen Timothy F, Aldersley Thomas, Lawrenson John, Human Paul, Cupido Blanche, Shidhika Fenny, Comitis George, Fourie Barend, Brooks Andre, Swanson Lenise, De Decker Rik, Engel Kélin, Joachim Alexia, Magadla Phaphama, Edwards Hope-Kirsten, Sliwa Karen, Shaboodien Gasnat, Ramesar Raj, Keavney Bernard D, Zühlke Liesl J
Abstract excerpt
BACKGROUND: Congenital heart disease (CHD) is a leading cause of pediatric morbidity and mortality worldwide. The genetics of CHD in African populations is not well understood, although it has been shown in other settings that a genetic diagnosis can have implications for patient management and risk stratification. In this study, we aimed to identify pathogenic and likely pathogenic (P/LP) variants in a cohort of...
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