(Q37408616)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27824329%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

title

De novo genic mutations among a Chinese autism spectrum disorder cohort (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27824329%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

main subject

autism spectrum disorder

0 references

0 references

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27824329%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Tychele N Turner

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27824329%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

29

Evan E Eichler

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27824329%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

20

Zev N Kronenberg

1 reference

27 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27824329%20AND%20SRC:MED&resulttype=core&format=json

15

Biyuan Chen

1 reference

27 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27824329%20AND%20SRC:MED&resulttype=core&format=json

Tianyun Wang

1

1 reference

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27 March 2020

Hui Guo

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27824329%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Holly A F Stessman

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27824329%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Huidan Wu

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27824329%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Bradley P Coe

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27824329%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Yanling Liu

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27824329%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Wenjing Zhao

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27824329%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Kendra Hoekzema

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27824329%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Laura Vives

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27824329%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Lu Xia

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27824329%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Meina Tang

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27824329%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Jianjun Ou

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27824329%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Yidong Shen

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27824329%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Guanglei Xun

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27824329%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Min Long

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27824329%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Janice Lin

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27824329%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Yu Peng

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27824329%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Ting Bai

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27824329%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Honghui Li

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27824329%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Xiaoyan Ke

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27824329%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Zhengmao Hu

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27824329%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Jingping Zhao

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27824329%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Xiaobing Zou

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27824329%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Kun Xia

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27824329%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

language of work or name

English

0 references

publication date

8 November 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27824329%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

published in

Nature Communications

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27824329%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

volume

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27824329%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

page(s)

13316

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27824329%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

27 March 2020

copyright license

start time

8 November 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1038/ncomms13316

0 references

cites work

Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

Excess of rare, inherited truncating mutations in autism

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

Recurrent de novo mutations implicate novel genes underlying simplex autism risk

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

The contribution of de novo coding mutations to autism spectrum disorder

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

Synaptic, transcriptional and chromatin genes disrupted in autism

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

Refining analyses of copy number variation identifies specific genes associated with developmental delay

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

Copy number variation in Han Chinese individuals with autism spectrum disorder

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

Disruptive CHD8 mutations define a subtype of autism early in development

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

Prevalence of autism spectrum disorder among children aged 8 years - autism and developmental disabilities monitoring network, 11 sites, United States, 2010

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

A genotype-first approach to defining the subtypes of a complex disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

De novo mutations in epileptic encephalopathies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

Properties and rates of germline mutations in humans

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

Structural diversity and African origin of the 17q21.31 inversion polymorphism

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

De Novo Gene Disruptions in Children on the Autistic Spectrum

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

SHANK1 Deletions in Males with Autism Spectrum Disorder

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

Global prevalence of autism and other pervasive developmental disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

Clinical spectrum of SCN2A mutations.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

IQ in children with autism spectrum disorders: data from the Special Needs and Autism Project (SNAP).

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

Activity-dependent phosphorylation of MeCP2 threonine 308 regulates interaction with NCoR.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

Large-scale discovery of novel genetic causes of developmental disorders

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

Diagnostic exome sequencing in persons with severe intellectual disability

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5105161

2 September 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/27824329

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NCOMMS13316

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27824329%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27824329%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

PubMed publication ID

27824329

1 reference