Associated Papers
Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes.
Qiao L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32719394 (PubMed )
Supplement: NIHMS1619686-supplement-Supplementary_tables.xlsx › Table_S3
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
Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia.
Longoni M et al.
Human Genetics, 2017
Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia.
Yu L et al.
Human Molecular Genetics, 2015
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