A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing-Reference-Cited by-同舟云学术

A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing

Published:2018-12-14 Issue:3 Volume:27 Page:349-352
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Krahn Martin,Biancalana Valérie,Cerino Mathieu,Perrin Aurélien,Michel-Calemard Laurence,Nectoux Juliette,Leturcq France,Bouchet-Séraphin Céline,Acquaviva-Bourdain Cécile,Campana-Salort Emmanuelle,Molon Annamaria,Urtizberea Jon Andoni,Audic Frédérique,Chabrol Brigitte,Pouget Jean,Froissart Roseline,Melki Judith,Rendu John,Petit François,Métay Corinne,Seta Nathalie,Sternberg Damien,Fauré Julien,Cossée Mireille

Funder

Filière Nationale des Maladies Rares Neuromusculaires FILNEMUS

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s41431-018-0305-1.pdf

Reference3 articles.

1. Bonne G, Rivier F, Hamroun D. The 2018 version of the gene table of monogenic neuromuscular disorders (nuclear genome). Neuromuscul Disord. 2017;27:1152–83.

2. Matthijs G, Souche E, Alders M, Corveleyn A, Eck S, Feenstra I,et al. Guidelines for diagnostic next-generation sequencing. Eur J Hum Genet. 2016;24:2–5.

3. Strande NT, Riggs ER, Buchanan AH, Ceyhan-Birsoy O, DiStefano M, Dwight SS, et al. Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the clinical genome resource. Am J Hum Genet. 2017;100:895–906.

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