(Q48769843)

15 February 2018

title

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

1 reference

15 February 2018

main subject

autism spectrum disorder

0 references

0 references

4

1 reference

15 February 2018

Pingzhao Hu

5

1 reference

15 February 2018

Ryan Yuen

14

1 reference

15 February 2018

Kristiina Tammimies

Kristiina Tammimies

2

0 references

Dalila Pinto

Dalila Pinto

7

0 references

Stephen W. Scherer

15

Stephen W Scherer

1 reference

15 February 2018

11

Benjamin J Blencowe

1 reference

15 February 2018

Daniele Merico

13

Daniele Merico

1 reference

15 February 2018

Christian Marshall

10

Christian R Marshall

1 reference

15 February 2018

Zhuozhi Wang

6

Zhuozhi Wang

1 reference

15 February 2018

Giovanna Pellecchia

3

Giovanna Pellecchia

1 reference

15 February 2018

Thomas Nalpathamkalam

9

Thomas Nalpathamkalam

1 reference

15 February 2018

Brendan J. Frey

12

Brendan J Frey

1 reference

15 February 2018

Lynette Lau

8

Lynette Lau

1 reference

15 February 2018

author name string

Mohammed Uddin

1

1 reference

15 February 2018

language of work or name

English

0 references

publication date

25 May 2014

1 reference

15 February 2018

published in

Nature Genetics

1 reference

15 February 2018

volume

46

1 reference

15 February 2018

issue

7

1 reference

15 February 2018

page(s)

742-747

1 reference

15 February 2018

Genetic architecture in autism spectrum disorder

cites work

1 reference

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

21 January 2018

1 reference

Functional impact of global rare copy number variation in autism spectrum disorders

21 January 2018

1 reference

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

21 January 2018

1 reference

Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting

21 January 2018

1 reference

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

21 January 2018

1 reference

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

21 January 2018

1 reference

Exome sequencing supports a de novo mutational paradigm for schizophrenia.

21 January 2018

1 reference

Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease

21 January 2018

1 reference

Structural variation of chromosomes in autism spectrum disorder

21 January 2018

1 reference

Rare deletions at the neurexin 3 locus in autism spectrum disorder

21 January 2018

1 reference

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

21 January 2018

1 reference

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

21 January 2018

1 reference

Spatio-temporal transcriptome of the human brain

21 January 2018

1 reference

Integrative annotation of variants from 1092 humans: application to cancer genomics

21 January 2018

1 reference

Genic intolerance to functional variation and the interpretation of personal genomes

21 January 2018

1 reference

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

21 January 2018

1 reference

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

21 January 2018

1 reference

De Novo Gene Disruptions in Children on the Autistic Spectrum

21 January 2018

1 reference

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

A de novo paradigm for mental retardation.

21 January 2018

1 reference

Deciphering the splicing code

21 January 2018

1 reference

Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network

21 January 2018

1 reference

A systematic survey of loss-of-function variants in human protein-coding genes

21 January 2018

1 reference

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

21 January 2018

1 reference

Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

21 January 2018

1 reference

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

21 January 2018

1 reference

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

21 January 2018

1 reference

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

21 January 2018

1 reference

Characterization of the proteome, diseases and evolution of the human postsynaptic density.

21 January 2018

1 reference

Narrowing the critical deletion region for autism spectrum disorders on 16p11.2.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

FOXP2 targets show evidence of positive selection in European populations

21 January 2018

1 reference

Analysis and design of RNA sequencing experiments for identifying isoform regulation

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1038/NG.2980

1 reference

15 February 2018

1 reference

15 February 2018