(Q34299841)

1 August 2017

title

A candidate gene association study further corroborates involvement of contactin genes in autism (English)

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1 August 2017

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Martin Poot

1

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1 August 2017

publication date

17 May 2014

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1 August 2017

published in

Molecular syndromology

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1 August 2017

volume

5

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1 August 2017

issue

5

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1 August 2017

page(s)

229-235

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Genic intolerance to functional variation and the interpretation of personal genomes

1 August 2017

cites work

1 reference

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6 July 2018

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6 July 2018

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6 July 2018

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Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

6 July 2018

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Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

6 July 2018

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Common genetic variants, acting additively, are a major source of risk for autism

6 July 2018

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6 July 2018

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Individual common variants exert weak effects on the risk for autism spectrum disorders

6 July 2018

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6 July 2018

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Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

6 July 2018

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De novo mutations revealed by whole-exome sequencing are strongly associated with autism

6 July 2018

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What does CNTNAP2 reveal about autism spectrum disorder?

6 July 2018

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

6 July 2018

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6 July 2018

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The conundrums of understanding genetic risks for autism spectrum disorders

6 July 2018

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Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk

6 July 2018

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Functional enrichment analysis with structural variants: pitfalls and strategies

6 July 2018

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Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits

6 July 2018

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Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism

6 July 2018

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Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

6 July 2018

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Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

6 July 2018

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A common genetic variant in the neurexin superfamily member CNTNAP2 is associated with increased risk for selective mutism and social anxiety-related traits

6 July 2018

1 reference

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Phenotypic variability and genetic susceptibility to genomic disorders

6 July 2018

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6 July 2018

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Key role for gene dosage and synaptic homeostasis in autism spectrum disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4188154

Linkage and candidate gene studies of autism spectrum disorders in European populations

6 July 2018

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Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4188154

Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4188154

A genome-wide association study of autism reveals a common novel risk locus at 5p14.1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4188154

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4188154

Common genetic variants on 5p14.1 associate with autism spectrum disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4188154

A functional genetic link between distinct developmental language disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4188154

Advances in autism genetics: on the threshold of a new neurobiology

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4188154

Structural variation of chromosomes in autism spectrum disorder

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4188154

PLINK: a tool set for whole-genome association and population-based linkage analyses

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4188154

Rethinking the nature of genetic vulnerability to autistic spectrum disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4188154

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4188154

The genetics of autistic disorders and its clinical relevance: a review of the literature

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4188154

Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4188154

A cis-complex of NB-2/contactin-5 with amyloid precursor-like protein 1 is localized on the presynaptic membrane.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4188154

No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4188154

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4188154

Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4188154

Neural recognition molecule NB-2 of the contactin/F3 subgroup in rat: Specificity in neurite outgrowth-promoting activity and restricted expression in the brain regions.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4188154

28 October 2018

Identifiers

DOI

10.1159/000362891

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1 August 2017

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1 August 2017

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