Associated Papers
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.
Qi H et al.
Plos Genetics, 2018
30532227 (PubMed )
Supplement: pgen.1007822.s011.xlsx › CodingDNM
Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia.
Yu L et al.
Human Molecular Genetics, 2015
Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.
Yu L et al.
Journal of Medical Genetics, 2014
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