Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene
在827例先天性膈疝患者中发现的罕见和新生变异提示LONP1可能是候选风险基因。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2021.08.011
Qiao, Lu; Xu, Le; Yu, Lan; Wynn, Julia; Hernan, Rebecca; Zhou, Xueya; Farkouh-Karoleski, Christiana; Krishnan, Usha S; Khlevner, Julie; De, Aliva; Zygmunt, Annette; Crombleholme, Timothy; Lim, Foong-Yen; Needelman, Howard; Cusick, Robert A; Mychaliska, George B; Warner, Brad W; Wagner, Amy J; Danko, Melissa E; Chung, Dai; Potoka, Douglas; Kosiński, Przemyslaw; McCulley, David J; Elfiky, Mahmoud; Azarow, Kenneth; Fialkowski, Elizabeth; Schindel, David; Soffer, Samuel Z; Lyon, Jane B; Zalieckas, Jill M; Vardarajan, Badri N; Aspelund, Gudrun; Duron, Vincent P; High, Frances A; Sun, Xin; Donahoe, Patricia K; Shen, Yufeng; Chung, Wendy K