Associated Papers
The complex etiology of autism spectrum disorder due to missense mutations of CHD8.
Shiraishi T et al.
Molecular Psychiatry, 2024
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
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Chd8 haploinsufficiency impairs early brain development and protein homeostasis later in life.
Jiménez JA et al.
Molecular Autism, 2020
A spontaneous missense mutation in the chromodomain helicase DNA-binding protein 8 (CHD8) gene: a novel association with congenital myasthenic syndrome.
Lee CY et al.
Neuropathology and Applied Neurobiology, 2020
De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth.
An Y et al.
Human Genetics, 2020
Autism spectrum disorder early in development associated with CHD8 mutations among two Chinese children.
Wang J et al.
Bmc Pediatrics, 2018
Disruptive CHD8 mutations define a subtype of autism early in development.
Bernier R et al.
Cell, 2014
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