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Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene

Lu Qiao, Le Xu, Lan Yu, Julia Wynn, Rebecca Hernan, Xueya Zhou, Christiana Farkouh‐Karoleski, Usha Krishnan, Julie Khlevner, Aliva De, Annette Zygmunt, Timothy M. Crombleholme, Foong‐Yen Lim, Howard Needelman, Robert A. Cusick, George B. Mychaliska, Brad W. Warner, Amy J. Wagner, Melissa E. Danko, Dai H. Chung, Douglas A. Potoka, Przemysław Kosiński, David J. McCulley, Mahmoud Elfiky, Kenneth S. Azarow, Elizabeth Fialkowski, David Schindel, Samuel Z. Soffer, Jane B. Lyon, Jill M. Zalieckas, Badri N. Vardarajan, Guðrún Aspelund, Vincent Duron, Frances A. High, Xin Sun, Patricia K. Donahoe, Yufeng Shen, Wendy K. Chung

2021The American Journal of Human Genetics50 citationsDOIOpen Access PDF

Topics & Concepts

ProbandCongenital diaphragmatic herniaGeneticsCandidate geneGeneBiologyMedicineMutationFetusPregnancyCongenital Diaphragmatic Hernia StudiesNeonatal Respiratory Health ResearchTracheal and airway disorders
Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene | Litcius