Identification of candidate intergenic risk loci in autism spectrum disorder (Q34860194)

4 August 2017

title

Identification of candidate intergenic risk loci in autism spectrum disorder (English)

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4 August 2017

main subject

autism spectrum disorder

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2

Stephen W Scherer

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4 August 2017

Susan Walker

1

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4 August 2017

language of work or name

English

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publication date

24 July 2013

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4 August 2017

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4 August 2017

volume

14

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4 August 2017

page(s)

499

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

4 August 2017

cites work

1 reference

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A discovery resource of rare copy number variations in individuals with autism spectrum disorder

8 July 2018

1 reference

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A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability

8 July 2018

1 reference

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An integrated encyclopedia of DNA elements in the human genome

8 July 2018

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SHANK1 Deletions in Males with Autism Spectrum Disorder

8 July 2018

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A noncoding RNA antisense to moesin at 5p14.1 in autism

8 July 2018

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Genetic architecture in autism spectrum disorder

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734099

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734099

Rare deletions at the neurexin 3 locus in autism spectrum disorder

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734099

Exploring the potential role of disease-causing mutation in a gene desert: duplication of noncoding elements 5' of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734099

Copy-number variations, noncoding sequences, and human phenotypes

8 July 2018

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Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

8 July 2018

1 reference

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Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734099

Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability

8 July 2018

1 reference

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Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability

8 July 2018

1 reference

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Functional impact of global rare copy number variation in autism spectrum disorders

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734099

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734099

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734099

Identifying autism loci and genes by tracing recent shared ancestry

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734099

Structural variation of chromosomes in autism spectrum disorder

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734099

Contribution of SHANK3 mutations to autism spectrum disorder

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734099

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734099

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3734099

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures

8 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186/1471-2164-14-499

Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186/1471-2164-14-499

21 January 2018

Identifiers

DOI

10.1186/1471-2164-14-499

1 reference

4 August 2017

1 reference

4 August 2017

1 reference