Autistic Disorder
|
0.700 |
Biomarker
|
disease |
BEFREE |
CHD8 has been reported as an autism susceptibility/intellectual disability gene but emerging evidence suggests that it additionally causes an overgrowth phenotype.
|
31721432 |
2019 |
Autistic Disorder
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the CHD2 gene have been linked to developmental delay, intellectual disability, autism and seizures, CHD8 mutations to autism and intellectual disability, whereas haploinsufficiency of CHD7 is associated with executive dysfunction and intellectual disability.
|
30277262 |
2018 |
Autistic Disorder
|
0.700 |
Biomarker
|
disease |
BEFREE |
Autism-associated CHD8 deficiency impairs axon development and migration of cortical neurons.
|
30574290 |
2018 |
Autistic Disorder
|
0.700 |
Biomarker
|
disease |
BEFREE |
The chromatin remodeling gene CHD8 represents a central node in neurodevelopmental gene networks implicated in autism.
|
28671691 |
2017 |
Autistic Disorder
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This case report supports the association of CHD8 mutations with classical autism, macrocephaly, infantile hypotonia, speech delay, lack of major ID, and psychopathology in late adolescence caused by insufficient dosage of CHD8.
|
26789910 |
2016 |
Autistic Disorder
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We describe a single case of an intragenic deletion of exons 26-28 in the CHD8 gene in a patient with autism and global developmental delay.
|
26921529 |
2016 |
Autistic Disorder
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.
|
26789910 |
2016 |
Autistic Disorder
|
0.700 |
Biomarker
|
disease |
BEFREE |
The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment.
|
25752243 |
2015 |
Autistic Disorder
|
0.700 |
Biomarker
|
disease |
CTD_human |
Excess of rare, inherited truncating mutations in autism.
|
25961944 |
2015 |
Autistic Disorder
|
0.700 |
Biomarker
|
disease |
BEFREE |
The autism-associated gene chromodomain helicase DNA-binding protein 8 (CHD8) regulates noncoding RNAs and autism-related genes.
|
25989142 |
2015 |
Autistic Disorder
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Disruptive CHD8 mutations define a subtype of autism early in development.
|
24998929 |
2014 |
Autistic Disorder
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly.
|
25257502 |
2014 |
Autistic Disorder
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Disruptive CHD8 mutations define a subtype of autism early in development.
|
24998929 |
2014 |
Autistic Disorder
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Autistic patients also presented overexpression of genes regulated by androgen receptor (AR), and AR itself, which in turn interacts with CHD8 (chromodomain helicase DNA binding protein 8), a gene recently shown to be associated with the cause of autism and found to be upregulated in some patients tested here.
|
23801657 |
2013 |
Autistic Disorder
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
|
22495309 |
2012 |
Autistic Disorder
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
|
23160955 |
2012 |
Autistic Disorder
|
0.700 |
Biomarker
|
disease |
BEFREE |
Despite the challenge posed by such models, results from de novo events and a large parallel case-control study provide strong evidence in favour of CHD8 and KATNAL2 as genuine autism risk factors.
|
22495311 |
2012 |
Autistic Disorder
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
|
23160955 |
2012 |
Autistic Disorder
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|