(Q43102156)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26690673%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

title

NSD1 mutations generate a genome-wide DNA methylation signature (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26690673%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

0 references

19

1 reference

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3 March 2020

Roberto Mendoza-Londono

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26690673%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

author name string

S Choufani

1

1 reference

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3 March 2020

C Cytrynbaum

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26690673%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

B H Y Chung

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26690673%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

A L Turinsky

4

1 reference

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3 March 2020

D Grafodatskaya

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26690673%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Y A Chen

6

1 reference

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3 March 2020

A S A Cohen

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26690673%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

L Dupuis

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26690673%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

D T Butcher

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26690673%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

M T Siu

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26690673%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

H M Luk

11

1 reference

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3 March 2020

I F M Lo

12

1 reference

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3 March 2020

S T S Lam

13

1 reference

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3 March 2020

O Caluseriu

14

1 reference

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3 March 2020

D J Stavropoulos

15

1 reference

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3 March 2020

W Reardon

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26690673%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

M Brudno

18

1 reference

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3 March 2020

D Chitayat

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26690673%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

R Weksberg

21

1 reference

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3 March 2020

language of work or name

English

0 references

publication date

22 December 2015

1 reference

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3 March 2020

published in

Nature Communications

1 reference

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3 March 2020

volume

6

1 reference

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3 March 2020

page(s)

10207

1 reference

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Creative Commons Attribution 4.0 International

3 March 2020

copyright license

start time

1 December 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

1 reference

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Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C.

25 May 2018

1 reference

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Discovery of cross-reactive probes and polymorphic CpGs in the Illumina Infinium HumanMethylation450 microarray

25 May 2018

1 reference

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25 May 2018

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Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

25 May 2018

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Mutations in EZH2 cause Weaver syndrome

25 May 2018

1 reference

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Predicting the functional impact of protein mutations: application to cancer genomics

25 May 2018

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Role for the nuclear receptor-binding SET domain protein 1 (NSD1) methyltransferase in coordinating lysine 36 methylation at histone 3 with RNA polymerase II function

25 May 2018

1 reference

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MutationTaster evaluates disease-causing potential of sequence alterations

25 May 2018

1 reference

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GREAT improves functional interpretation of cis-regulatory regions

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4703864

A method and server for predicting damaging missense mutations

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4703864

Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4703864

Linking DNA methylation and histone modification: patterns and paradigms

25 May 2018

1 reference

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Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

25 May 2018

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25 May 2018

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PMUT: a web-based tool for the annotation of pathological mutations on proteins.

25 May 2018

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CEREBRAL GIGANTISM IN CHILDHOOD. A SYNDROME OF EXCESSIVELY RAPID GROWTH AND ACROMEGALIC FEATURES AND A NONPROGRESSIVE NEUROLOGIC DISORDER.

25 May 2018

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NSD1 is essential for early post-implantation development and has a catalytically active SET domain

25 May 2018

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Haploinsufficiency of NSD1 causes Sotos syndrome

25 May 2018

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WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma

25 May 2018

1 reference

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Mutations in SETD2 cause a novel overgrowth condition.

25 May 2018

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Performance of mutation pathogenicity prediction methods on missense variants

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Crossref

https://api.crossref.org/works/10.1038%2FNCOMMS10207

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS10207

21 January 2018

Identifiers

DOI

10.1038/NCOMMS10207

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26690673%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26690673%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

PubMed publication ID

26690673

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26690673%20AND%20SRC:MED&resulttype=core&format=json