Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use
Abstract 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 t...
Main Authors: | Thomas Husson, François Lecoquierre, Kevin Cassinari, Camille Charbonnier, Olivier Quenez, Alice Goldenberg, Anne-Marie Guerrot, Anne-Claire Richard, Valérie Drouin-Garraud, Anne-Claire Brehin, Maryam Soleimani, Romain Taton, Maud Rotharmel, Antoine Rosier, Pascal Chambon, Nathalie Le Meur, Géraldine Joly-Helas, Pascale Saugier-Veber, Anne Boland, Jean-François Deleuze, Robert Olaso, Thierry Frebourg, Gael Nicolas, Olivier Guillin, Dominique Campion |
---|---|
Format: | Article |
Language: | English |
Published: |
Nature Publishing Group
2020-02-01
|
Series: | Translational Psychiatry |
Online Access: | https://doi.org/10.1038/s41398-020-0760-7 |
Similar Items
-
When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20
by: Marguerite Hureaux, et al.
Published: (2021-05-01) -
Développement de vecteurs pharmaceutiques pour le relargage contrôlé de principes actifs
by: Le Meur, Anne-Claire
Published: (2009) -
Développement de vecteurs pharmaceutiques pour le relargage contrôlé de principes actifs
by: Le Meur, Anne-Claire
Published: (2009) -
NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation
by: Ivana Dabaj, et al.
Published: (2021-02-01) -
A Connected Network of Interacting Proteins Is Involved in Human-Tau Toxicity in Drosophila
by: Sébastien Feuillette, et al.
Published: (2020-02-01)