(Q48769843)

15 February 2018

title

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder. (English)

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15 February 2018

main subject

autism spectrum disorder

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4

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15 February 2018

Pingzhao Hu

5

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15 February 2018

Ryan Yuen

14

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15 February 2018

Kristiina Tammimies

Kristiina Tammimies

2

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Dalila Pinto

Dalila Pinto

7

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Stephen W. Scherer

15

Stephen W Scherer

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15 February 2018

11

Benjamin J Blencowe

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15 February 2018

Daniele Merico

13

Daniele Merico

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15 February 2018

Christian Marshall

10

Christian R Marshall

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15 February 2018

Zhuozhi Wang

6

Zhuozhi Wang

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15 February 2018

Giovanna Pellecchia

3

Giovanna Pellecchia

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15 February 2018

Thomas Nalpathamkalam

9

Thomas Nalpathamkalam

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15 February 2018

Brendan J. Frey

12

Brendan J Frey

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15 February 2018

Lynette Lau

8

Lynette Lau

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15 February 2018

author name string

Mohammed Uddin

1

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15 February 2018

language of work or name

English

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publication date

25 May 2014

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15 February 2018

published in

Nature Genetics

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15 February 2018

volume

46

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15 February 2018

page(s)

742-747

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15 February 2018

issue

7

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15 February 2018

https://scigraph.springernature.com/pub.10.1038/ng.2980

exact match

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cites work

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

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

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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

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FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism

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Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism

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Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism

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Alternative splicing and differential gene expression in colon cancer detected by a whole genome exon array.

21 January 2018

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FOXP2 targets show evidence of positive selection in European populations

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Analysis and design of RNA sequencing experiments for identifying isoform regulation

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21 January 2018

Identifiers

DOI

10.1038/NG.2980

1 reference

15 February 2018

PubMed ID

24859339

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15 February 2018