Associated Papers
The complex etiology of autism spectrum disorder due to missense mutations of CHD8.
Shiraishi T et al.
Molecular Psychiatry, 2024
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K et al.
Ebiomedicine, 2024
38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S4
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_
Inferring the molecular and phenotypic impact of amino acid variants with MutPred2.
Pejaver V et al.
Nature Communications, 2020
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
Systematic phenomics analysis of autism-associated genes reveals parallel networks underlying reversible impairments in habituation.
McDiarmid TA et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
Autism-associated missense genetic variants impact locomotion and neurodevelopment in Caenorhabditis elegans.
Wong WR et al.
Human Molecular Genetics, 2019
De novo genic mutations among a Chinese autism spectrum disorder cohort.
Wang T et al.
Nature Communications, 2016
27824329 (PubMed )
Supplement: ncomms13316-s7.xlsx › Supplementary_Data_6
Mutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism Etiology.
Barnard RA et al.
Frontiers in Neuroscience, 2015
Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis S et al.
Nature, 2014
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