A framework for the interpretation of de novo mutation in human disease (Q29031873)

26 March 2017

16

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Eric Boerwinkle

17

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Elise B Robinson

Elise B Robinson

2

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Kaitlin E Samocha

Kaitlin E Samocha

1

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Stephan J. Sanders

Stephan J Sanders

3

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James S. Sutcliffe

James S Sutcliffe

22

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Kathryn Roeder

Kathryn Roeder

24

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Joseph Buxbaum

Joseph D Buxbaum

18

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Swapan Mallick

9

Swapan Mallick

1 reference

26 March 2017

19

Edwin H Cook

1 reference

26 March 2017

26

Mark J Daly

1 reference

26 March 2017

13

Stacey B Gabriel

1 reference

26 March 2017

25

Benjamin M Neale

1 reference

26 March 2017

15

Shaun M Purcell

1 reference

26 March 2017

12

Daniel G MacArthur

1 reference

26 March 2017

20

Richard A Gibbs

1 reference

26 March 2017

Gerard D Schellenberg

21

Gerard D Schellenberg

1 reference

26 March 2017

14

Mark DePristo

1 reference

26 March 2017

8

Karola Rehnström

1 reference

26 March 2017

10

Andrew Kirby

1 reference

26 March 2017

7

Jack A Kosmicki

1 reference

26 March 2017

4

Christine Stevens

1 reference

26 March 2017

23

Bernie Devlin

1 reference

26 March 2017

5

Aniko Sabo

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26 March 2017

author name string

Lauren M McGrath

6

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26 March 2017

Dennis P Wall

11

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26 March 2017

language of work or name

English

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publication date

3 August 2014

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26 March 2017

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26 March 2017

volume

46

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26 March 2017

page(s)

944-950

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26 March 2017

issue

9

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De novo mutations in epileptic encephalopathies

26 March 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222185

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

26 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222185

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

26 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222185

Estimating the human mutation rate using autozygosity in a founder population

26 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222185

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

26 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222185

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

26 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222185

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

26 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222185

Variation in genome-wide mutation rates within and between human families

26 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222185

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

26 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222185

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

26 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222185

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

26 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222185

Adaptive protein evolution at the Adh locus in Drosophila

26 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222185

De Novo Gene Disruptions in Children on the Autistic Spectrum

26 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222185

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222185

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222185

Fast and accurate long-read alignment with Burrows-Wheeler transform

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222185

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222185

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222185

Natural selection on protein-coding genes in the human genome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222185

Genic intolerance to functional variation and the interpretation of personal genomes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222185

Differential relationship of DNA replication timing to different forms of human mutation and variation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222185

De novo gene mutations highlight patterns of genetic and neural complexity in 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=4222185

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222185

Diagnostic exome sequencing in persons with severe intellectual disability

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4222185

26 November 2018

Identifiers

DOI

10.1038/NG.3050

2 references

26 March 2017

Dimensions Publication ID

774802

1031523622

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774802

1 reference

1 reference

1 reference