Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility (Q56970470)

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4 June 2020

James S. Sutcliffe

7

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4 June 2020

author name string

Elena Bacchelli

1

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4 June 2020

Agatino Battaglia

2

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4 June 2020

Cinzia Cameli

3

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4 June 2020

Silvia Lomartire

4

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4 June 2020

Susanne Thomson

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4 June 2020

Elena Maestrini

8

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American Journal of Medical Genetics

4 June 2020

language of work or name

English

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publication date

April 2015

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5 February 2015

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published in

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4 June 2020

volume

167A

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4 June 2020

issue

4

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4 June 2020

page(s)

715-723

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Mammalian nicotinic acetylcholine receptors: from structure to function

4 June 2020

cites work

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Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.

21 January 2018

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

21 January 2018

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QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

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A copy number variation morbidity map of developmental delay

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Genetic architecture in autism spectrum disorder

21 January 2018

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Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

21 January 2018

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Genomic organization and partial duplication of the human alpha7 neuronal nicotinic acetylcholine receptor gene (CHRNA7)

21 January 2018

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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

21 January 2018

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Understanding the impact of 1q21.1 copy number variant

21 January 2018

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15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

21 January 2018

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Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype.

21 January 2018

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An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

21 January 2018

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

21 January 2018

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

21 January 2018

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Association of promoter variants in the alpha7 nicotinic acetylcholine receptor subunit gene with an inhibitory deficit found in schizophrenia

21 January 2018

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Structural variation of chromosomes in autism spectrum disorder

21 January 2018

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Delineation of 15q13.3 microdeletions.

21 January 2018

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Neuron-specific impairment of inter-chromosomal pairing and transcription in a novel model of human 15q-duplication syndrome

21 January 2018

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Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

21 January 2018

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Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts

21 January 2018

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A 15q13.3 microdeletion segregating with autism

21 January 2018

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Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

21 January 2018

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A 3-Mb map of a large Segmental duplication overlapping the alpha7-nicotinic acetylcholine receptor gene (CHRNA7) at human 15q13-q14

21 January 2018

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

21 January 2018

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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

21 January 2018

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A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

21 January 2018

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CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.

21 January 2018

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Large recurrent microdeletions associated with schizophrenia

21 January 2018

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Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

21 January 2018

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Epilepsy and autism: neurodevelopmental perspective

21 January 2018

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Nicotinic receptors that bind α-bungarotoxin on neurons raise intracellular free ca2+

21 January 2018

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Clinical characteristics of children with autism spectrum disorder and co-occurring epilepsy

21 January 2018

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Seizure disorders in autism

21 January 2018

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PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

21 January 2018

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15q11.2-13.3 chromatin analysis reveals epigenetic regulation of CHRNA7 with deficiencies in Rett and autism brain.

21 January 2018

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Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/AJMG.A.36847

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25655306%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

1 reference