(Q34344183)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

title

De novo mutations in histone-modifying genes in congenital heart disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

0 references

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Jianming Jiang

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Joseph Glessner

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Juan P Kaski

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Jeremy Leipzig

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

George A Porter

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Stephan J. Sanders

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Sai Lakshmi Subramanian

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

48

Elizabeth Goldmuntz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

40

Dorothy Warburton

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

17

Hakon Hakonarson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

49

Christine E Seidman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

27

Laura E Mitchell

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

19

Jonathan R Kaltman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

45

Martina Brueckner

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

44

Jonathan G Seidman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

47

Bruce D Gelb

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

3

Hiroko Wakimoto

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

14

Steve DePalma

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

29

Michael Parfenov

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

1

Samir Zaidi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

9

Roger E Breitbart

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

28

Jane W Newburger

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

13

John Deanfield

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

author name string

Lijiang Ma

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

John D Overton

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Angela Romano-Adesman

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Robert D Bjornson

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Kerry K Brown

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Nicholas J Carriero

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Yee Him Cheung

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Khalid A Fakhro

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Michael J Italia

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Richard Kim

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Jennie K Kline

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Teresa Lee

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Alexander Lopez

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Shrikant M Mane

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Itsik Pe'er

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Amy E Roberts

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Ravi Sachidanandam

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Howard S Seiden

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Mathew W State

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Irina R Tikhonova

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Wei Wang

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Peter S White

41

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Ismee A Williams

42

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Hongyu Zhao

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Wendy K Chung

46

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Richard P Lifton

50

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

language of work or name

English

0 references

publication date

12 May 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

volume

498

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

issue

7453

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

page(s)

220-223

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma

1 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706629

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706629

Expression of autism spectrum and schizophrenia in patients with a 22q11.2 deletion

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706629

A temporal chromatin signature in human embryonic stem cells identifies regulators of cardiac development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706629

Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706629

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706629

RNF20 and USP44 regulate stem cell differentiation by modulating H2B monoubiquitylation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706629

The COMPASS family of histone H3K4 methylases: mechanisms of regulation in development and disease pathogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706629

De Novo Gene Disruptions in Children on the Autistic Spectrum

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706629

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706629

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706629

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706629

Truncations of titin causing dilated cardiomyopathy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706629

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706629

Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706629

Construction of normalized RNA-seq libraries for next-generation sequencing using the crab duplex-specific nuclease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706629

The histone methyltransferase SETDB1 is recurrently amplified in melanoma and accelerates its onset

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706629

The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706629

Histone demethylases in development and disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706629

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706629

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706629

Prevalence of congenital heart defects in metropolitan Atlanta, 1998-2005.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706629

A bivalent chromatin structure marks key developmental genes in embryonic stem cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706629

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706629

Tubedown-1, a novel acetyltransferase associated with blood vessel development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706629

Dynamic and coordinated epigenetic regulation of developmental transitions in the cardiac lineage

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706629

Revising the human mutation rate: implications for understanding human evolution

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706629

Nodal signaling recruits the histone demethylase Jmjd3 to counteract polycomb-mediated repression at target genes.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706629

A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23665959

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The Congenital Heart Disease Genetic Network Study: rationale, design, and early results

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNATURE12141

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NATURE12141

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

PubMed publication ID

23665959

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23665959%20AND%20SRC:MED&resulttype=core&format=json