Varaico: Literature-Extracted Genetic Variants

Gene:CHD8
Variant:p.S62*
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CHD8

NM_001170629.2:p.S62*

Associated Papers

Elucidating neuroepigenetic mechanisms to inform targeted therapeutics for brain disorders.

Weekley BH et al.

Iscience, 2025

Male-Dominant Effects of Chd8 Haploinsufficiency on Synaptic Phenotypes during Development in Mouse Prefrontal Cortex.

Ellingford RA et al.

Acs Chemical Neuroscience, 2024

Neurodevelopmental functions of CHD8: new insights and questions.

Basson MA

Biochemical Society Transactions, 2024

Deletion of the autism-related gene Chd8 alters activity-dependent transcriptional responses in mouse postmitotic neurons.

Kawamura A et al.

Communications Biology, 2023

Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.

Chan AJS et al.

Nature Communications, 2022

36309498 (PubMed )
Supplement: 41467_2022_34112_MOESM4_ESM.xlsx › SupData_17

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.

Dingemans AJM et al.

Translational Psychiatry, 2022

36182950 (PubMed )
Supplement: 41398_2022_2189_MOESM1_ESM.xlsx › Sheet1

Age-differential sexual dimorphism in CHD8-S62X-mutant mouse behaviors.

Lee SY et al.

Frontiers in Molecular Neuroscience, 2022

Chromatin Remodeler CHD8 in Autism and Brain Development.

Hoffmann A et al.

Journal of Clinical Medicine, 2021

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

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.

Husson T et al.

Translational Psychiatry, 2020

32094338 (PubMed )
Supplement: 41398_2020_760_MOESM2_ESM.xlsx › De_novo

Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants.

Siu MT et al.

Clinical Epigenetics, 2019

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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."