Disruptive CHD8 mutations define a subtype of autism early in development (Q24300432)

digestive tract development

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

0 references

0 references

0 references

0 references

Christelle Golzio

0 references

Holly A Stessman

0 references

Trygve Bakken

0 references

Antonino Alberti

0 references

Brian J O'Roak

0 references

Serafino Buono

0 references

Marco Fichera

0 references

Corrado Romano

0 references

Randall Moon

0 references

Bo Xiong

0 references

Ed Lein

0 references

Heather C. Mefford

Heather C Mefford

0 references

Jill A Rosenfeld

Jill A Rosenfeld

0 references

Bradley P. Coe

Bradley P Coe

0 references

Kali T Witherspoon

Kali Witherspoon

0 references

Jennifer Gerdts

Jennifer Gerdts

0 references

Carl Edward Baker

Anneke T Vulto-van Silfhout

Carl Baker

0 references

Janneke H M Schuurs-Hoeijmakers

Anneke T Vulto-van Silfhout

0 references

Janneke H Schuurs-Hoeijmakers

0 references

Paolo Bosco

Paolo Bosco

0 references

Pinella Failla

Pinella Failla

0 references

Lisenka Vissers

Lisenka E L M Vissers

0 references

Bert B A de Vries

Bert B A de Vries

0 references

Julia Rankin

Julia Rankin

0 references

author name string

Raphael Bernier

0 references

Hilde Peeters

0 references

Jean Steyaert

0 references

Ludmila Francescatto

0 references

Matthew Pawlus

0 references

David G Amaral

describes a project that uses

0 references

language of work or name

English

0 references

publication date

17 July 2014

0 references

published in

Cell

0 references

volume

158

0 references

issue

0 references

page(s)

263-76

0 references

ImageJ

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4136921/fullTextXML

inferred from PubMed Central ID database lookup

on focus list of Wikimedia project

ScienceSource

0 references

cites work

Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

Efficient genome editing in zebrafish using a CRISPR-Cas system

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

Histone H1 recruitment by CHD8 is essential for suppression of the Wnt-β-catenin signaling pathway

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

Association between microdeletion and microduplication at 16p11.2 and autism

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

Colobomatous Microphthalmia, Heart Disease, Hearing Loss, and Mental Retardation-A Syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

De Novo Gene Disruptions in Children on the Autistic Spectrum

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

Structure of the zebrafish snail1 gene and its expression in wild-type, spadetail and no tail mutant embryos

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

A genotype-first approach to defining the subtypes of a complex disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

Variation in chromatin accessibility in human kidney cancer links H3K36 methyltransferase loss with widespread RNA processing defects

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

Efficient multiplex biallelic zebrafish genome editing using a CRISPR nuclease system

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

Microgavage of zebrafish larvae

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

Next-generation sequencing demands next-generation phenotyping

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

Simons Variation in Individuals Project (Simons VIP): a genetics-first approach to studying autism spectrum and related neurodevelopmental disorders

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

A multisite study of the clinical diagnosis of different autism spectrum disorders

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

Standardizing ADOS scores for a measure of severity in autism spectrum disorders

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

Defining the phenotype in human genetic studies: forward genetics and reverse phenotyping

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

Severe impairments of social interaction and associated abnormalities in children: Epidemiology and classification

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

CHD8 is an independent prognostic indicator that regulates Wnt/β-catenin signaling and the cell cycle in gastric cancer

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

The Allen Human Brain Atlas: comprehensive gene expression mapping of the human brain

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

In silico prediction of splice-affecting nucleotide variants.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

Analysis of gastrointestinal physiology using a novel intestinal transit assay in zebrafish.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4136921

Hand2 is necessary for terminal differentiation of enteric neurons from crest-derived precursors but not for their migration into the gut or for formation of glia

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24998929

12 December 2020

inferred from PubMed ID database lookup

Enteric neurogenesis by neural crest-derived branchial arch mesenchymal cells

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24998929

12 December 2020

inferred from PubMed ID database lookup

Genetic and expressional alterations of CHD genes in gastric and colorectal cancers

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24998929

12 December 2020

inferred from PubMed ID database lookup

Association of autism with induced or augmented childbirth in North Carolina Birth Record (1990-1998) and Education Research (1997-2007) databases

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2014.06.017

7 January 2021

The sleep/wake rhythm in children with autism

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2014.06.017

7 January 2021

Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2014.06.017

7 January 2021

Prevalence and onset of regression within autism spectrum disorders: a meta-analytic review.

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2014.06.017

7 January 2021

Prenatal and birth complications in autism

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2014.06.017

7 January 2021

An investigation into sleep characteristics of children with autism and Asperger's Disorder.

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2014.06.017

7 January 2021

A survey of sleep problems in autism, Asperger's disorder and typically developing children

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2014.06.017

7 January 2021

Sleep problems in children with autism

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2014.06.017

7 January 2021

Sleep problems in children with autism spectrum disorders, developmental delays, and typical development: a population-based study

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2014.06.017

7 January 2021

Sleep problems in handicapped children: a preliminary study

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2014.06.017

7 January 2021

Trends and issues in labor induction in the United States: implications for clinical practice

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2014.06.017

7 January 2021

10.1016/J.CELL.2014.06.017

Identifiers

DOI

1 reference

1 reference

1 reference

PubMed publication ID

24998929

1 reference