Article
Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants.
American journal of human genetics - 7 Nov 2024
Qiao Lu, Welch Carrie L, Hernan Rebecca, Wynn Julia, Krishnan Usha S, Zalieckas Jill M, Buchmiller Terry, Khlevner Julie, De Aliva, Farkouh-Karoleski Christiana, Wagner Amy J, Heydweiller Andreas, Mueller Andreas C, de Klein Annelies, Warner Brad W, Maj Carlo, Chung Dai, McCulley David J, Schindel David, Potoka Douglas, Fialkowski Elizabeth, Schulz Felicitas, Kipfmuller Florian, Lim Foong-Yen, Magielsen Frank, Mychaliska George B, Aspelund Gudrun, Reutter Heiko Martin, Needelman Howard, Schnater J Marco, Fisher Jason C, Azarow Kenneth, Elfiky Mahmoud, Nöthen Markus M, Danko Melissa E, Li Mindy, Kosiński Przemyslaw, Wijnen Rene M H, Cusick Robert A, Soffer Samuel Z, Cochius-Den Otter Suzan C M, Schaible Thomas, Crombleholme Timothy, Duron Vincent P, Donahoe Patricia K, Sun Xin, High Frances A, Bendixen Charlotte, Brosens Erwin, Shen Yufeng, Chung Wendy K
Abstract excerpt
Congenital diaphragmatic hernia (CDH) is a severe congenital anomaly often accompanied by other structural anomalies and/or neurobehavioral manifestations. Rare de novo protein-coding variants and copy-number variations contribute to CDH in the population. However, most individuals with CDH remain genetically undiagnosed. Here, we perform integrated de novo and common-variant analyses using 1,469 CDH individuals,...
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