Article
A systems genetics approach identifies roles for proteasome factors in heart development and congenital heart defects.
PLoS genetics - 1 Aug 2025
Farr Gist H, Reid Whitaker, Hasegawa Eva H, Azzam Azzam, Young Isabelle, Li Mona L, Olson Aaron K, Beier David R, Maves Lisa
Abstract excerpt
Congenital heart defects (CHDs) occur in about 1% of live births and are the leading cause of infant death due to birth defects. While there have been remarkable efforts to pursue large-scale whole-exome and genome sequencing studies on CHD patient cohorts, it is estimated that these approaches have thus far accounted for only about 50% of the genetic contribution to CHDs. We sought to take a new approach to...
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