Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls (Q34672061)

3 August 2017

title

Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls (English)

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3 August 2017

main subject

autism spectrum disorder

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30

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29

Eric Boerwinkle

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Donna Muzny

8

Donna Muzny

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Stacey Gabriel

16

Stacey Gabriel

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Kaitlin E Samocha

27

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James S. Sutcliffe

James S Sutcliffe

34

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Kathryn Roeder

Kathryn Roeder

37

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Edwin H Cook

31

Edwin H Cook

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35

Mark J Daly

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Stephan Ripke

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3

Benjamin M Neale

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36

Richard A Gibbs

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Lora Lewis

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Gerard D Schellenberg

33

Gerard D Schellenberg

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6

Elaine Lim

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Jared Maguire

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Eric Banks

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Mark Depristo

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Jason Flannick

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26

Khalid Shakir

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5

Christine Stevens

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32

Bernie Devlin

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2

Aniko Sabo

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Uma Nagaswamy

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Alicia Hawes

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Irene Newsham

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18

Shannon Gross

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Ryan Poplin

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Corneliu A Bodea

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Li Liu

1

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Jeffrey G Reid

9

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Hillary Coon

11

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Huyen Dinh

13

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Tim Fennel

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Kiran Garimella

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Vladimir Makarov

21

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Yuanqing Wu

28

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3 August 2017

language of work or name

English

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publication date

11 April 2013

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3 August 2017

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3 August 2017

volume

9

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3 August 2017

issue

4

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3 August 2017

page(s)

e1003443

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Creative Commons Attribution 4.0 International

3 August 2017

copyright license

start time

11 April 2013

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3623759

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3623759

The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3623759

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

7 July 2018

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

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3623759

Adjustment for population stratification via principal components in association analysis of rare variants

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3623759

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

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3623759

Exome sequencing and the genetic basis of complex traits

7 July 2018

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

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3623759

De Novo Gene Disruptions in Children on the Autistic Spectrum

7 July 2018

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Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3623759

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3623759

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3623759

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3623759

Genetic architecture in autism spectrum disorder

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3623759

An integrative variant analysis suite for whole exome next-generation sequencing data

7 July 2018

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Rare-variant association testing for sequencing data with the sequence kernel association test

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3623759

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3623759

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3623759

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3623759

A framework for variation discovery and genotyping using next-generation DNA sequencing data

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3623759

Testing for an unusual distribution of rare variants

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3623759

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3623759

Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3623759

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

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3623759

A method and server for predicting damaging missense mutations

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3623759

Meta-analysis of genome-wide association studies: no efficiency gain in using individual participant data

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3623759

An evaluation of statistical approaches to rare variant analysis in genetic association studies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3623759

Discovery of rare variants via sequencing: implications for the design of complex trait association studies

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3623759

Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3623759

A groupwise association test for rare mutations using a weighted sum statistic

7 July 2018

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Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans.

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3623759

Analysis of multiple SNPs in a candidate gene or region

7 July 2018

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Rare independent mutations in renal salt handling genes contribute to blood pressure variation

7 July 2018

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Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes

7 July 2018

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7 July 2018

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Principal components analysis corrects for stratification in genome-wide association studies

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3623759

Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3623759

Measuring inconsistency in meta-analyses

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3623759

The allelic architecture of human disease genes: common disease-common variant... or not?

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3623759

Are rare variants responsible for susceptibility to complex diseases?

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3623759

Genomic control for association studies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3623759

A strategy to discover genes that carry multi-allelic or mono-allelic risk for common diseases: a cohort allelic sums test (CAST).

7 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003443

Powerful multi‐marker association tests: unifying genomic distance‐based regression and logistic regression

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003443

An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003443

Differential confounding of rare and common variants in spatially structured populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003443

Algorithm AS 155: The Distribution of a Linear Combination of χ 2 Random Variables

21 January 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003443

Discovering genetic ancestry using spectral graph theory

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3623759

10.1371/JOURNAL.PGEN.1003443

26 October 2018

Identifiers

DOI

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3 August 2017

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3 August 2017

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