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

Author:

Qi Hongjian,Yu Lan,Zhou XueyaORCID,Wynn Julia,Zhao Haoquan,Guo Yicheng,Zhu Na,Kitaygorodsky AlexanderORCID,Hernan RebeccaORCID,Aspelund Gudrun,Lim Foong-Yen,Crombleholme Timothy,Cusick Robert,Azarow Kenneth,Danko Melissa E.,Chung Dai,Warner Brad W.,Mychaliska George B.,Potoka Douglas,Wagner Amy J.,ElFiky MahmoudORCID,Wilson Jay M.,Nickerson Debbie,Bamshad MichaelORCID,High Frances A.,Longoni MauroORCID,Donahoe Patricia K.ORCID,Chung Wendy K.,Shen Yufeng

Funder

University of Washington Center for Mendelian Genomics

National Human Genome Research Institute

National Heart, Lung, and Blood Institute

National Institutes of Health (US)

National Institute of Child Health and Human Development (US)

National Institute of General Medical Sciences

National Institute of Child Health and Human Development

National Center for Research Resources

CHERUBS

National Greek Orthodox Ladies Philoptochos Society, Inc.

Wheeler Foundation

Vanech Family Foundation

Larsen Family

Wilke Family

Publisher

Public Library of Science (PLoS)

Subject

Cancer Research,Genetics (clinical),Genetics,Molecular Biology,Ecology, Evolution, Behavior and Systematics

Reference80 articles.

1. Congenital Diaphragmatic hernia—a review;PK Chandrasekharan;Matern Health Neonatol Perinatol,2017

2. Associated malformations in congenital diaphragmatic hernia;I Zaiss;Am J Perinatol,2011

3. Associated malformations in cases with congenital diaphragmatic hernia;C Stoll;Genet Couns,2008

4. Improved mortality rate for congenital diaphragmatic hernia in the modern era of management: 15 year experience in a single institution;JM Zalla;J Pediatr Surg,2015

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