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

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31 May 2020

S Rangasamy

13

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31 May 2020

Isabelle Schrauwen

18

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31 May 2020

author name string

Abby M Moskowitz

1

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31 May 2020

Newell Belnap

2

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31 May 2020

Ashley L Siniard

3

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31 May 2020

Szabolcs Szelinger

4

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31 May 2020

Ana M Claasen

5

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31 May 2020

Ryan F Richholt

6

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31 May 2020

Matt De Both

7

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31 May 2020

Jason J Corneveaux

8

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31 May 2020

Chris Balak

9

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31 May 2020

Megan Russell

11

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31 May 2020

Amanda L Courtright

12

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31 May 2020

Keri Ramsey

14

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31 May 2020

David W Craig

15

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31 May 2020

Vinodh Narayanan

16

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31 May 2020

Matt J Huentelman

17

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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

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31 May 2020

volume

2

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31 May 2020

issue

5

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31 May 2020

page(s)

a000851

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

31 May 2020

cites work

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

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

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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

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MutationTaster evaluates disease-causing potential of sequence alterations

7 April 2017

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NF-kappaB: a key role in inflammatory diseases

7 April 2017

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Immune mediated conditions in autism spectrum disorders

7 April 2017

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

28 September 2017

1 reference

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

28 September 2017

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

28 September 2017

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

28 September 2017

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Identification of deleterious mutations within three human genomes

28 September 2017

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

28 September 2017

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

31 May 2018

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

28 November 2018

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

28 November 2018

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

28 November 2018

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

28 November 2018

1 reference

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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