(Q21198723)

25 June 2017

title

CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems (English)

1 reference

disability affecting intellectual abilities

25 June 2017

0 references

0 references

intellectual disability

1 reference

based on heuristic

inferred from title

1 reference

16

Stephen W Scherer

Stephen W

Scherer

1 reference

25 June 2017

Sébastien Chénier

1

Sébastien

Chénier

1 reference

25 June 2017

Grace Yoon

2

Grace

Yoon

1 reference

25 June 2017

Bob Argiropoulos

3

Bob

Argiropoulos

1 reference

25 June 2017

Julie Lauzon

4

Julie

Lauzon

1 reference

25 June 2017

Rachel Laframboise

5

Rachel

Laframboise

1 reference

25 June 2017

Joo Wook Ahn

6

Joo Wook

Ahn

1 reference

25 June 2017

Caroline Mackie Ogilvie

7

Caroline Mackie

Ogilvie

1 reference

25 June 2017

Anath C Lionel

8

Anath C

Lionel

1 reference

25 June 2017

Christian R Marshall

9

Christian R

Marshall

1 reference

25 June 2017

Andrea K Vaags

10

Andrea K

Vaags

1 reference

25 June 2017

Bita Hashemi

11

Bita

Hashemi

1 reference

25 June 2017

Karine Boisvert

12

Karine

Boisvert

1 reference

25 June 2017

Géraldine Mathonnet

13

Géraldine

Mathonnet

1 reference

25 June 2017

Frédérique Tihy

14

Frédérique

Tihy

1 reference

25 June 2017

Joyce So

15

Joyce

So

1 reference

25 June 2017

Emmanuelle Lemyre

17

Emmanuelle

Lemyre

1 reference

25 June 2017

Dimitri J Stavropoulos

18

Dimitri J

Stavropoulos

1 reference

25 June 2017

language of work or name

English

0 references

publication date

22 April 2014

1 reference

Journal of Neurodevelopmental Disorders

25 June 2017

published in

1 reference

25 June 2017

volume

6

1 reference

25 June 2017

issue

1

1 reference

25 June 2017

page(s)

9

1 reference

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

25 June 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022362

De novo mutations in epileptic encephalopathies

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022362

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022362

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022362

Functional impact of global rare copy number variation 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=4022362

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022362

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=4022362

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=4022362

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=4022362

Identification and analysis of chromodomain-containing proteins encoded in the mouse transcriptome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022362

Genome-wide association and meta-analysis in populations from Starr County, Texas, and Mexico City identify type 2 diabetes susceptibility loci and enrichment for expression quantitative trait loci in top signals

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022362

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=4022362

Integrating common and rare genetic variation in diverse human populations

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022362

Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022362

Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022362

A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022362

Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022362

Genetic variants at 2q24 are associated with susceptibility to type 2 diabetes

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022362

A genome-wide association study of alcohol dependence

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022362

Population analysis of large copy number variants and hotspots of human genetic disease

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022362

CHD proteins: a diverse family with strong ties

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022362

The Chd family of chromatin remodelers

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022362

PopGen: population-based recruitment of patients and controls for the analysis of complex genotype-phenotype relationships

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022362

ATP-dependent chromatin remodeling

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022362

The in vivo functions of ATP-dependent chromatin-remodelling factors

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022362

Germ-line DNA copy number variation frequencies in a large North American population

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4022362

Kinesin family member 6 variant Trp719Arg does not associate with angiographically defined coronary artery disease in the Ottawa Heart Genomics Study

27 September 2017

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1866-1955-6-9

Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causes scoliosis.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1866-1955-6-9

21 January 2018

Identifiers

DOI

10.1186/1866-1955-6-9

1 reference

Dimensions Publication ID

25 June 2017

1019950556

0 references

Fatcat ID

release_okcvvnvzdze3lkzupskjlchrru

0 references

OpenCitations bibliographic resource ID

1734519

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1734519

1 reference