Associated Papers
Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability.
Hudac CM et al.
Journal of Autism and Developmental Disorders, 2024
Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions.
Neuhaus E et al.
Journal of Neurodevelopmental Disorders, 2024
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.
Li K et al.
Ebiomedicine, 2024
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.
Dingemans AJM et al.
Translational Psychiatry, 2022
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Nassir N et al.
Human Genomics, 2021
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
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
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
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
Guo H et al.
Nature Communications, 2019
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
A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8.
Yasin H et al.
Journal of Human Genetics, 2019
Autism spectrum disorder early in development associated with CHD8 mutations among two Chinese children.
Wang J et al.
Bmc Pediatrics, 2018
Systematic reconstruction of autism biology from massive genetic mutation profiles.
Luo W et al.
Science Advances, 2018
Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism.
Luhrs K et al.
Autism Research and Treatment, 2017
De novo genic mutations among a Chinese autism spectrum disorder cohort.
Wang T et al.
Nature Communications, 2016
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
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