Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders

Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders

Abstract Background Ultra-rare genetic variants, including non-recurrent copy number variations (CNVs) affecting important dosage-sensitive genes, are important contributors to the etiology of neurodevelopmental disorders (NDDs). Pairing family-based whole-genome sequencing (WGS) with detailed pheno...

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Bibliographic Details
Main Authors: Gregory Costain, Susan Walker, Bob Argiropoulos, Danielle A. Baribeau, Anne S. Bassett, Erik Boot, Koen Devriendt, Barbara Kellam, Christian R. Marshall, Aparna Prasad, Moises A. Serrano, D. James Stavropoulos, Hope Twede, Joris R. Vermeesch, Jacob A. S. Vorstman, Stephen W. Scherer
Format: Article
Language:English
Published: BMC 2019-02-01
Series:Journal of Neurodevelopmental Disorders
Subjects:
Copy number variation
Genome sequencing
Autism
ADHD
DMXL2
GRIK5
Online Access:http://link.springer.com/article/10.1186/s11689-019-9263-3

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http://link.springer.com/article/10.1186/s11689-019-9263-3

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