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

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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

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25 June 2017

Julie Lauzon

4

Julie

Lauzon

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25 June 2017

Rachel Laframboise

5

Rachel

Laframboise

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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

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publication date

22 April 2014

1 reference

Journal of Neurodevelopmental Disorders

25 June 2017

published in

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25 June 2017

volume

6

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25 June 2017

issue

1

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25 June 2017

page(s)

9

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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