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_
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
Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.
Dufva O et al.
Nature Communications, 2018
29674644 (PubMed )
Supplement: 41467_2018_3987_MOESM6_ESM.xlsx › NKTCL_L01
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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