De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.
Plos Genetics
Qi, Hongjian H; Yu, Lan L; Zhou, Xueya X; Wynn, Julia J; Zhao, Haoquan H; Guo, Yicheng Y; Zhu, Na N; Kitaygorodsky, Alexander A; Hernan, Rebecca R; Aspelund, Gudrun G; Lim, Foong-Yen FY; Crombleholme, Timothy T; Cusick, Robert R; Azarow, Kenneth K; Danko, Melissa E ME; Chung, Dai D; Warner, Brad W BW; Mychaliska, George B GB; Potoka, Douglas D; Wagner, Amy J AJ; ElFiky, Mahmoud M; Wilson, Jay M JM; Nickerson, Debbie D; Bamshad, Michael M; High, Frances A FA; Longoni, Mauro M; Donahoe, Patricia K PK; Chung, Wendy K WK; Shen, Yufeng Y