Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and prac...
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use
About this item
Full title
Author / Creator
Husson, Thomas , Lecoquierre, François , Cassinari, Kevin , Charbonnier, Camille , Quenez, Olivier , Goldenberg, Alice , Guerrot, Anne-Marie , Richard, Anne-Claire , Drouin-Garraud, Valérie , Brehin, Anne-Claire , Soleimani, Maryam , Taton, Romain , Rotharmel, Maud , Rosier, Antoine , Chambon, Pascal , Le Meur, Nathalie , Joly-Helas, Géraldine , Saugier-Veber, Pascale , Boland, Anne , Deleuze, Jean-François , Olaso, Robert , Frebourg, Thierry , Nicolas, Gael , Guillin, Olivier and Campion, Dominique
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a strong genetic component whose knowledge evolves quickly. Next-generation sequencing is the only effective technology to deal with the high genetic heterogeneity of ASD in a clinical setting. However, rigorous criteria to classify rare genetic variants conferring ASD susceptibil...
Alternative Titles
Full title
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use
Authors, Artists and Contributors
Author / Creator
Lecoquierre, François
Cassinari, Kevin
Charbonnier, Camille
Quenez, Olivier
Goldenberg, Alice
Guerrot, Anne-Marie
Richard, Anne-Claire
Drouin-Garraud, Valérie
Brehin, Anne-Claire
Soleimani, Maryam
Taton, Romain
Rotharmel, Maud
Rosier, Antoine
Chambon, Pascal
Le Meur, Nathalie
Joly-Helas, Géraldine
Saugier-Veber, Pascale
Boland, Anne
Deleuze, Jean-François
Olaso, Robert
Frebourg, Thierry
Nicolas, Gael
Guillin, Olivier
Campion, Dominique
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_8b9cf6cb671e43d4a092d47799fdef90
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_8b9cf6cb671e43d4a092d47799fdef90
Other Identifiers
ISSN
2158-3188
E-ISSN
2158-3188
DOI
10.1038/s41398-020-0760-7