Associated Papers
Chd8 haploinsufficiency impairs early brain development and protein homeostasis later in life.
Jiménez JA et al.
Molecular Autism, 2020
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8
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
The clinical presentation caused by truncating CHD8 variants.
Douzgou S et al.
Clinical Genetics, 2019
Mutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism Etiology.
Barnard RA et al.
Frontiers in Neuroscience, 2015
Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
O'Roak BJ et al.
Nature Communications, 2014
25418537 (PubMed )
Supplement: NIHMS636245-supplement-2.xlsx › Sheet_1
Disruptive CHD8 mutations define a subtype of autism early in development.
Bernier R et al.
Cell, 2014
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
O'Roak BJ et al.
Science (new York, N.y.), 2012
Select a paper to view details