Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias

by Eric L. Bogenschutz, Zac D. Fox, Andrew Farrell, Julia Wynn, Barry Moore, Lan Yu, Gudrun Aspelund, Gabor Marth, Mark Yandell, Yufeng Shen, Wendy K. Chung, Gabrielle Kardon
Published 2020-10-01

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.

by Hongjian Qi, Lan Yu, Xueya Zhou, Julia Wynn, Haoquan Zhao, Yicheng Guo, Na Zhu, Alexander Kitaygorodsky, Rebecca Hernan, Gudrun Aspelund, Foong-Yen Lim, Timothy Crombleholme, Robert Cusick, Kenneth Azarow, Melissa E Danko, Dai Chung, Brad W Warner, George B Mychaliska, Douglas Potoka, Amy J Wagner, Mahmoud ElFiky, Jay M Wilson, Debbie Nickerson, Michael Bamshad, Frances A High, Mauro Longoni, Patricia K Donahoe, Wendy K Chung, Yufeng Shen
Published 2018-12-01