The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8

(2019) Heba Yasin et al.   JOURNAL OF HUMAN GENETICS

The clinical presentation caused by truncating CHD8 variants

(2019) Sofia Douzgou et al.   CLINICAL GENETICS

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

(2018) Ahmad N. Abou Tayoun et al.   HUMAN MUTATION

Sexually dimorphic behavior, neuronal activity, and gene expression in Chd8-mutant mice

(2018) Hwajin Jung et al.   NATURE NEUROSCIENCE

A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review

(2016) Nancy Merner et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

CHD8 intragenic deletion associated with autism spectrum disorder

(2016) Elliot S. Stolerman et al.   European Journal of Medical Genetics

Identification of a rare variant in CHD8 that contributes to schizophrenia and autism spectrum disorder susceptibility

(2016) Hiroki Kimura et al.   SCHIZOPHRENIA RESEARCH

Long term follow-up in a patient with a de novo microdeletion of 14q11.2 involvingCHD8

(2015) Jana Drabova et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

CRISPR/Cas9-mediated heterozygous knockout of the autism gene CHD8 and characterization of its transcriptional networks in neurodevelopment

(2015) Ping Wang et al.   Molecular Autism

Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involvingCHD8gene, is associated with autism and macrocephaly

(2014) Paolo Prontera et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

(2014) Raphael Bernier et al.   CELL

Prevalence and incidence rates of autism in the UK: time trend from 2004–2010 in children aged 8 years

(2013) Brent Taylor et al.   BMJ Open

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

The Deciphering Developmental Disorders (DDD) study

(2011) HELEN V FIRTH et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Histone H1 Recruitment by CHD8 Is Essential for Suppression of the Wnt- -Catenin Signaling Pathway

(2011) M. Nishiyama et al.   MOLECULAR AND CELLULAR BIOLOGY

CHD8 Is an ATP-Dependent Chromatin Remodeling Factor That Regulates  -Catenin Target Genes

(2008) B. A. Thompson et al.   MOLECULAR AND CELLULAR BIOLOGY