The contribution of de novo coding mutations to autism spectrum disorder (Q28250812)

45

0 references

Holly A Stessman

Holly A Stessman

7

0 references

Brian J O'Roak

Brian J O'Roak

2

0 references

Stephan J. Sanders

Stephan J Sanders

3

0 references

Michael C. Schatz

Michael C Schatz

41

0 references

Michael Wigler

47

Michael Wigler

0 references

Deborah A Nickerson

13

Deborah A Nickerson

0 references

Kali T Witherspoon

8

Kali T Witherspoon

0 references

Niklas Krumm

5

Niklas Krumm

0 references

Shrikant M Mane

18

Shrikant M Mane

0 references

Karynne E Patterson

10

Karynne E Patterson

0 references

author name string

Ivan Iossifov

1

0 references

Michael Ronemus

4

0 references

Dan Levy

6

0 references

Laura Vives

9

0 references

Joshua D Smith

11

0 references

Bryan Paeper

12

0 references

Jeanselle Dea

14

0 references

Shan Dong

15

0 references

Luis E Gonzalez

16

0 references

Jeffrey D Mandell

17

0 references

Michael T Murtha

19

0 references

Catherine A Sullivan

20

0 references

Michael F Walker

21

0 references

Zainulabedin Waqar

22

0 references

Liping Wei

23

0 references

A Jeremy Willsey

24

0 references

Boris Yamrom

25

0 references

Yoon-ha Lee

26

0 references

Ewa Grabowska

27

0 references

Ertugrul Dalkic

28

0 references

Zihua Wang

29

0 references

Steven Marks

30

0 references

Peter Andrews

31

0 references

Anthony Leotta

32

0 references

Jude Kendall

33

0 references

Inessa Hakker

34

0 references

Julie Rosenbaum

35

0 references

Beicong Ma

36

0 references

Linda Rodgers

37

0 references

Jennifer Troge

38

0 references

Giuseppe Narzisi

39

0 references

Seungtai Yoon

40

0 references

Kenny Ye

42

0 references

W Richard McCombie

43

0 references

Matthew W State

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

46

0 references

language of work or name

English

0 references

publication date

13 November 2014

0 references

published in

Nature

0 references

volume

515

0 references

page(s)

216-21

0 references

issue

7526

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

Estimating the human mutation rate using autozygosity in a founder population

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

Rate of de novo mutations and the importance of father's age to disease risk

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

Histone H1 recruitment by CHD8 is essential for suppression of the Wnt-β-catenin signaling pathway

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

The Mouse Genome Database (MGD): premier model organism resource for mammalian genomics and genetics

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

The Sequence Alignment/Map format and SAMtools

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

Fast and accurate short read alignment with Burrows-Wheeler transform

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

Structural variation of chromosomes in autism spectrum disorder

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

A unified genetic theory for sporadic and inherited autism

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

The Epidemiology of Autism Spectrum Disorders *

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

Strong association of de novo copy number mutations with autism

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

Advancing paternal age and autism

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

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

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

De Novo Gene Disruptions in Children on the Autistic Spectrum

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

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=4313871

Spatio-temporal transcriptome of the human brain

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

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=4313871

Accurate de novo and transmitted indel detection in exome-capture data using microassembly

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

Random monoallelic expression: regulating gene expression one allele at a time

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

Disentangling the heterogeneity of autism spectrum disorder through genetic findings

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

De novo mutations in schizophrenia implicate synaptic networks

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

The role of de novo mutations in the genetics of autism spectrum disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

Random or stochastic monoallelic expressed genes are enriched for neurodevelopmental disorder candidate genes.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

Phenotypic impact of genomic structural variation: insights from and for human disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

Gene balance hypothesis: connecting issues of dosage sensitivity across biological disciplines

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

Exome sequencing supports a de novo mutational paradigm for schizophrenia.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

Defects in translational regulation contributing to human cognitive and behavioral disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

Pervasive multinucleotide mutational events in eukaryotes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

The Simons Simplex Collection: a resource for identification of autism genetic risk factors

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

Copy number variation in human health, disease, and evolution

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

Network properties of genes harboring inherited disease mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4313871

Diagnostic exome sequencing in persons with severe intellectual disability

2 June 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13908

Gene dosage effects: nonlinearities, genetic interactions, and dosage compensation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13908

Maternal and paternal age and risk of autism spectrum disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13908

Linking the SWI/SNF complex to prostate cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE13908

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NATURE13908

1 reference

journals/nature/IossifovOSRKLSW14

304956

DBLP publication ID

1 reference

DBLP Dataset 2021-01-02

Dimensions Publication ID

28 January 2021

1046951438

0 references

304956

1 reference

1 reference

1 reference