|
| Entrez Id: |
1106 |
| Gene Symbol: |
CHD2 |
CHD2
|
Overgrowth
|
0.100 |
GeneticVariation |
CLINVAR |
Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant.
|
28960266 |
2017 |
|
| Entrez Id: |
1106 |
| Gene Symbol: |
CHD2 |
CHD2
|
Overgrowth
|
0.100 |
GeneticVariation |
CLINVAR |
Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation.
|
26754451 |
2016 |
|
| Entrez Id: |
1106 |
| Gene Symbol: |
CHD2 |
CHD2
|
Overgrowth
|
0.100 |
GeneticVariation |
CLINVAR |
CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures.
|
25672921 |
2015 |
|
| Entrez Id: |
1106 |
| Gene Symbol: |
CHD2 |
CHD2
|
Overgrowth
|
0.100 |
GeneticVariation |
CLINVAR |
De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder.
|
25284784 |
2014 |
|
| Entrez Id: |
1106 |
| Gene Symbol: |
CHD2 |
CHD2
|
Overgrowth
|
0.100 |
GeneticVariation |
CLINVAR |
Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
|
25418537 |
2014 |
|
| Entrez Id: |
1106 |
| Gene Symbol: |
CHD2 |
CHD2
|
Overgrowth
|
0.100 |
GeneticVariation |
CLINVAR |
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
|
23708187 |
2013 |
|
| Entrez Id: |
1106 |
| Gene Symbol: |
CHD2 |
CHD2
|
Overgrowth
|
0.100 |
GeneticVariation |
CLINVAR |
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.
|
24207121 |
2013 |
|
| Entrez Id: |
1106 |
| Gene Symbol: |
CHD2 |
CHD2
|
Overgrowth
|
0.100 |
GeneticVariation |
CLINVAR |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
|
| Entrez Id: |
1106 |
| Gene Symbol: |
CHD2 |
CHD2
|
Overgrowth
|
0.100 |
GeneticVariation |
CLINVAR |
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
|
22495311 |
2012 |
|
| Entrez Id: |
1106 |
| Gene Symbol: |
CHD2 |
CHD2
|
Overgrowth
|
0.100 |
GeneticVariation |
CLINVAR |
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
|
23020937 |
2012 |
|
| Entrez Id: |
1106 |
| Gene Symbol: |
CHD2 |
CHD2
|
Overgrowth
|
0.100 |
GeneticVariation |
CLINVAR |
Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility.
|
22865819 |
2012 |
|
| Entrez Id: |
1106 |
| Gene Symbol: |
CHD2 |
CHD2
|
Overgrowth
|
0.100 |
GeneticVariation |
CLINVAR |
The Chd family of chromatin remodelers.
|
17350655 |
2007 |