A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review. (Q55059539)

16 June 2018

title

A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review. (English)

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16 June 2018

11

Guy A Rouleau

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16 June 2018

Nancy Merner

1

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Laurent Mottron

10

Laurent Mottron

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16 June 2018

Scott C Bell

3

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Gilles Maussion

Gilles Maussion

4

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Julie Gauthier

6

Julie Gauthier

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16 June 2018

9

Jacques L Michaud

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16 June 2018

Huashan Peng

5

Huashan Peng

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16 June 2018

Baudouin Forgeot d'Arc

2

Baudouin Forgeot d'Arc

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16 June 2018

author name string

Liam Crapper

7

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16 June 2018

Fadi F Hamdan

8

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16 June 2018

Carl Ernst

12

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16 June 2018

language of work or name

English

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publication date

20 January 2016

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16 June 2018

American Journal of Medical Genetics

published in

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16 June 2018

volume

170A

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issue

5

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16 June 2018

page(s)

1225-1235

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16 June 2018

Direct measure of the de novo mutation rate in autism and schizophrenia cohorts

cites work

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https://api.crossref.org/works/10.1002/AJMG.A.37566

Disruptive CHD8 mutations define a subtype of autism early in development

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Autism screening questionnaire: diagnostic validity

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Synaptic, transcriptional and chromatin genes disrupted in autism

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NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population

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De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia

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Gene hunting in autism spectrum disorder: on the path to precision medicine

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A molecular model for neurodevelopmental disorders

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Phenotypic variability and genetic susceptibility to genomic disorders

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https://api.crossref.org/works/10.1002/AJMG.A.37566

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

21 January 2018

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The contribution of de novo coding mutations to autism spectrum disorder

21 January 2018

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A de novo convergence of autism genetics and molecular neuroscience

21 January 2018

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The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism

21 January 2018

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Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders

21 January 2018

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Nonsense-mediated mRNA decay: an intricate machinery that shapes transcriptomes

21 January 2018

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De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability

21 January 2018

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https://api.crossref.org/works/10.1002/AJMG.A.37566

Patterns and rates of exonic de novo mutations in autism spectrum disorders

21 January 2018

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Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

21 January 2018

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https://api.crossref.org/works/10.1002/AJMG.A.37566

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

21 January 2018

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Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/AJMG.A.37566

1 reference

16 June 2018

1 reference

16 June 2018