(Q27321201)

27626064

26 June 2017

title

A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia (English)

1 reference

26 June 2017

1 reference

Ignazio Stefano Piras

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27626064%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

S Rangasamy

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27626064%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Isabelle Schrauwen

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27626064%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

author name string

Abby M Moskowitz

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27626064%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Newell Belnap

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27626064%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Ashley L Siniard

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27626064%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Szabolcs Szelinger

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27626064%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Ana M Claasen

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27626064%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Ryan F Richholt

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27626064%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Matt De Both

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27626064%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Jason J Corneveaux

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27626064%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Chris Balak

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27626064%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Megan Russell

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27626064%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Amanda L Courtright

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27626064%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Keri Ramsey

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27626064%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

David W Craig

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27626064%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Vinodh Narayanan

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27626064%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Matt J Huentelman

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27626064%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

language of work or name

English

0 references

publication date

1 September 2016

1 reference

27626064

Cold Spring Harbor molecular case studies

26 June 2017

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27626064%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

volume

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27626064%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

issue

5

1 reference

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31 May 2020

page(s)

a000851

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27626064%20AND%20SRC:MED&resulttype=core&format=json

BS69 cooperates with TRAF3 in the regulation of Epstein-Barr virus-derived LMP1/CTAR1-induced NF-kappaB activation

31 May 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5002929

Fast and accurate short read alignment with Burrows-Wheeler transform

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5002929

A quantitative atlas of mitotic phosphorylation

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5002929

BS69, a novel adenovirus E1A-associated protein that inhibits E1A transactivation

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5002929

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5002929

The Sequence Alignment/Map format and SAMtools

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5002929

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5002929

A general framework for estimating the relative pathogenicity of human genetic variants

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5002929

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5002929

MutationTaster evaluates disease-causing potential of sequence alterations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5002929

NF-kappaB: a key role in inflammatory diseases

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5002929

Immune mediated conditions in autism 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=5002929

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5002929

ClinVar: public archive of relationships among sequence variation and human phenotype

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5002929

Airway epithelial NF-κB activation promotes allergic sensitization to an innocuous inhaled antigen

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5002929

BS69 undergoes SUMO modification and plays an inhibitory role in muscle and neuronal differentiation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5002929

Identification of deleterious mutations within three human genomes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5002929

Predicting functional effect of human missense mutations using PolyPhen-2.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5002929

ZMYND11: an H3.3-specific reader of H3K36me3.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5002929

Severe clinical presentation in monozygotic twins with 10p15.3 microdeletion syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5002929

IL-33 markedly activates murine eosinophils by an NF-κB-dependent mechanism differentially dependent upon an IL-4-driven autoinflammatory loop.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5002929

Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5002929

Prediction of protein stability changes for single-site mutations using support vector machines

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5002929

A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27626064

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1101/MCS.A000851

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27626064%20AND%20SRC:MED&resulttype=core&format=json

OpenCitations bibliographic resource ID

31 May 2020

3744295

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

3744295

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27626064%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

27626064

1 reference