Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder

Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder

Abstract Background Neurogenetics investigations and diagnostic yield in patients with autism spectrum disorder (ASD) have significantly improved over the last few years. Yet, many patients still fail to be systematically investigated. Methods To improve access to services, an ambulatory team has be...

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Bibliographic Details
Main Authors: Arnold Munnich, Caroline Demily, Lisa Frugère, Charlyne Duwime, Valérie Malan, Giulia Barcia, Céline Vidal, Emeline Throo, Claude Besmond, Laurence Hubert, Gilles Roland-Manuel, Jean-Pierre Malen, Mélanie Ferreri, Sylvain Hanein, Jean-Christophe Thalabard, Nathalie Boddaert, Moïse Assouline
Format: Article
Language:English
Published: BMC 2019-08-01
Series:Molecular Autism
Subjects:
Autism spectrum disorder
Gene panel
Next-generation sequencing
Microarray
Copy number variant
Sequence variant
Online Access:http://link.springer.com/article/10.1186/s13229-019-0284-2

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