The clinical presentation caused by truncating CHD8 variants

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

Altered Neocortical Gene Expression, Brain Overgrowth and Functional Over-Connectivity in Chd8 Haploinsufficient Mice

(2018) Philipp Suetterlin et al.   CEREBRAL CORTEX

The autism spectrum phenotype in ADNP syndrome

(2018) Anne B. Arnett et al.   Autism Research

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

(2018) Hwajin Jung et al.   NATURE NEUROSCIENCE

Sex bias in autism: new insights from Chd8 mutant mice?

(2018) Laura C. Andreae et al.   NATURE NEUROSCIENCE

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

(2017) Holly A F Stessman et al.   NATURE GENETICS

Germline Chd8 haploinsufficiency alters brain development in mouse

(2017) Andrea L Gompers et al.   NATURE NEUROSCIENCE

Chd8 Mutation Leads to Autistic-like Behaviors and Impaired Striatal Circuits

(2017) Randall J. Platt et al.   Cell Reports

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

Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders

(2016) Christian de Goede et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

CHD8 haploinsufficiency results in autistic-like phenotypes in mice

(2016) Yuta Katayama et al.   NATURE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment

(2015) Justin Cotney et al.   Nature Communications

A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders

(2014) Sébastien Jacquemont et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

A de novo convergence of autism genetics and molecular neuroscience

(2014) Niklas Krumm et al.   TRENDS IN NEUROSCIENCES

Weaver syndrome andEZH2mutations: Clarifying the clinical phenotype

(2013) Katrina Tatton-Brown et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Autism

(2013) Meng-Chuan Lai et al.   LANCET

The chromatin remodeller CHD8 is required for E2F-dependent transcription activation of S-phase genes

(2013) Alicia Subtil-Rodríguez et al.   NUCLEIC ACIDS RESEARCH

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

(2012) Michael E. Talkowski et al.   CELL

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

(2012) Benjamin M. Neale et al.   NATURE

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

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

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

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

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

Synaptic Wnt signaling—a contributor to major psychiatric disorders?

(2011) Nathan D. Okerlund et al.   Journal of Neurodevelopmental Disorders

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

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

Regulation of HOXA2 gene expression by the ATP-dependent chromatin remodeling enzyme CHD8

(2010) Joel A. Yates et al.   FEBS LETTERS

CHD8 suppresses p53-mediated apoptosis through histone H1 recruitment during early embryogenesis

(2009) Masaaki Nishiyama et al.   NATURE CELL BIOLOGY

The chromatin remodeling factor CHD8 interacts with elongating RNA polymerase II and controls expression of the cyclin E2 gene

(2009) M. Rodríguez-Paredes et al.   NUCLEIC ACIDS RESEARCH

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

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