WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases. (Q50581941)

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scientific article published on 20 September 2016

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English	WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases.	scientific article published on 20 September 2016

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/27647783

WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases. (English)

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Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/27647783

1 reference

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Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/27647783

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Céline Guien

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Pauline Arnaud

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Amélie Pinard

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David Salgado

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Stéphane Zaffran

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Stéphane Zaffran

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Maria Martinez

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Catherine Boileau

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Catherine Boileau

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Gwenaëlle Collod-Béroud

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Gwenaëlle Collod-Béroud

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Europe PubMed Central

PubMed publication ID

16 March 2018

author name string

Jean-Pierre Desvignes

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Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/27647783

Ghadi Rai

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Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/27647783

Laurence Faivre

9

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Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/27647783

Guillaume Jondeau

10

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Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/27647783

Christophe Béroud

13

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Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/27647783

publication date

20 September 2016

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Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/27647783

1 reference

Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/27647783

37

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Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/27647783

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Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/27647783

1308-1317

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Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/27647783

A global reference for human genetic variation

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Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database

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Yearly rupture or dissection rates for thoracic aortic aneurysms: simple prediction based on size

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Human Splicing Finder: an online bioinformatics tool to predict splicing signals

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2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the Eur

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https://api.crossref.org/works/10.1002%2FHUMU.23119

21 January 2018

The new Ghent criteria for Marfan syndrome: what do they change?

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21 January 2018

Non-invasive prenatal measurement of the fetal genome

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https://api.crossref.org/works/10.1002%2FHUMU.23119

21 January 2018

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.

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https://api.crossref.org/works/10.1002%2FHUMU.23119

21 January 2018

Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.

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21 January 2018

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

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Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

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https://api.crossref.org/works/10.1002%2FHUMU.23119

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Pharmacogenomics in clinical practice and drug development

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2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the diagnosis and management of patients with thoracic aortic disease. A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guideli

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

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ClinVar: public archive of interpretations of clinically relevant variants

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Analysis of protein-coding genetic variation in 60,706 humans

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https://api.crossref.org/works/10.1002%2FHUMU.23119

21 January 2018

Severe aortic and arterial aneurysms associated with a TGFBR2 mutation

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https://api.crossref.org/works/10.1002%2FHUMU.23119

21 January 2018

The revised Ghent nosology for the Marfan syndrome

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Aneurysm syndromes caused by mutations in the TGF-beta receptor

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De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction

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MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II

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Aortic diameter >or = 5.5 cm is not a good predictor of type A aortic dissection: observations from the International Registry of Acute Aortic Dissection (IRAD).

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MutationTaster2: mutation prediction for the deep-sequencing age.

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dbSNP: the NCBI database of genetic variation

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SIFT web server: predicting effects of amino acid substitutions on proteins

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Identifiers

10.1002/HUMU.23119

1 reference

Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/27647783

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

16 March 2018

http://europepmc.org/abstract/MED/27647783

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