Article
Genome-Wide Association Studies of Down Syndrome Associated Congenital Heart Defects Suggests a Genetically Heterogeneous Risk for CHD in DS.
Genetic epidemiology - 1 Jun 2025
Feldman Elizabeth R, Li Yunqi, Cutler David J, Rosser Tracie C, Wechsler Stephanie B, Sanclemente Lauren, Rachubinski Angela L, Elliott Natalina, Vyas Paresh, Roberts Irene, Rabin Karen R, Wagner Michael, Gelb Bruce D, Espinosa Joaquin M, Lupo Philip J, de Smith Adam J, Sherman Stephanie L, Leslie-Clarkson Elizabeth J
Abstract excerpt
Congenital heart defects (CHDs) are the most common structural birth defect and are present in 40%-50% of children born with Down syndrome (DS). To characterize the genetic architecture of DS-associated CHD, we sequenced genomes of a multiethnic group of children with DS and a CHD (n = 886: atrioventricular septal defects (AVSD), n = 438; atrial septal defects (ASD), n = 122; ventricular septal defects (VSD),...
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