(Q29614573)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21572417 AND SRC:MED&resulttype=core&format=json

1 February 2020

title

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

2 references

PubMed

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=21572417

30 April 2017

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

1 February 2020

main subject

autism spectrum disorder

0 references

autism

0 references

corrigendum / erratum

0 references

author

Brian J O'Roak

1

1 reference

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1 February 2020

Pelagia Deriziotis

2

1 reference

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1 February 2020

Simon Fisher

14

1 reference

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1 February 2020

Jay Shendure

15

1 reference

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1 February 2020

12

Deborah A Nickerson

1 reference

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1 February 2020

16

Evan E Eichler

1 reference

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1 February 2020

10

Carl Baker

1 reference

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1 February 2020

3

Choli Lee

1 reference

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1 February 2020

6

Santhosh Girirajan

1 reference

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1 February 2020

7

Emre Karakoc

1 reference

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1 February 2020

11

Mark J Rieder

1 reference

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1 February 2020

5

Jerrod J Schwartz

1 reference

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1 February 2020

author name string

Laura Vives

4

1 reference

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1 February 2020

Alexandra P Mackenzie

8

1 reference

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1 February 2020

Sarah B Ng

9

1 reference

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1 February 2020

Raphael Bernier

13

1 reference

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=21572417

1 February 2020

language of work or name

1 reference

30 April 2017

publication date

15 May 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21572417 AND SRC:MED&resulttype=core&format=json

1 February 2020

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=21572417

30 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21572417 AND SRC:MED&resulttype=core&format=json

1 February 2020

volume

43

2 references

PubMed

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30 April 2017

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1 February 2020

issue

6

2 references

PubMed

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30 April 2017

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1 February 2020

page(s)

585-589

1 reference

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Diversity of human copy number variation and multicopy genes

1 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

A map of human genome variation from population-scale sequencing

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

A method and server for predicting damaging missense mutations

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

Targeted capture and massively parallel sequencing of 12 human exomes

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

The Sequence Alignment/Map format and SAMtools

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

Fast and accurate short read alignment with Burrows-Wheeler transform

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

Autism genetics: strategies, challenges, and opportunities

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

A functional genetic link between distinct developmental language disorders

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

Large recurrent microdeletions associated with schizophrenia

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

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

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

Structural variation of chromosomes in autism spectrum disorder

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

Strong association of de novo copy number mutations with autism

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

Genome-wide atlas of gene expression in the adult mouse brain

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

Distribution and intensity of constraint in mammalian genomic sequence

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

SCN1A mutations and epilepsy

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

Intergenerational transmission of subthreshold autistic traits in the general population

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

Parallel FoxP1 and FoxP2 expression in songbird and human brain predicts functional interaction

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

Transcriptional and DNA binding activity of the Foxp1/2/4 family is modulated by heterotypic and homotypic protein interactions

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

Sodium channels SCN1A, SCN2A and SCN3A in familial autism

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

Recent segmental duplications in the human genome

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

A forkhead-domain gene is mutated in a severe speech and language disorder

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

Autism as a strongly genetic disorder: evidence from a British twin study

30 April 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

30 April 2017

Amino acid difference formula to help explain protein evolution

1 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

Balancing selection maintains a form of ERAP2 that undergoes nonsense-mediated decay and affects antigen presentation

30 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

mrsFAST: a cache-oblivious algorithm for short-read mapping.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

Targeted enrichment of specific regions in the human genome by array hybridization

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

Rate, molecular spectrum, and consequences of human mutation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

Support for the involvement of large copy number variants in the pathogenesis of schizophrenia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

Population analysis of large copy number variants and hotspots of human genetic disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

Standardizing ADOS scores for a measure of severity in autism spectrum disorders

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

Advanced parental age and the risk of autism spectrum disorder

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

Functional genetic analysis of mutations implicated in a human speech and language disorder

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

Segmental duplications: organization and impact within the current human genome project assembly

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3115696

A de novo paradigm for mental retardation

3 June 2018

1 reference

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

21 January 2018

1 reference

SFARI Gene: an evolving database for the autism research community

21 January 2018

1 reference

The broad autism phenotype questionnaire

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=21572417

21 January 2018

Identifiers

3 references

30 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21572417 AND SRC:MED&resulttype=core&format=json

Dimensions Publication ID

1 February 2020

1018708872

0 references

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=21572417

3 references

30 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21572417 AND SRC:MED&resulttype=core&format=json

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=21572417

1 February 2020

PubMed publication ID

3 references

30 April 2017