Associated Papers
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.
Balasubramanian M et al.
European Journal of Human Genetics : Ejhg, 2021
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
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