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

Gregory CostainSusan WalkerBob ArgiropoulosDanielle A BaribeauAnne S BassettErik BootKoen DevriendtBarbara KellamChristian R MarshallAparna PrasadMoises A SerranoD James StavropoulosHope TwedeJoris R VermeeschJacob A S VorstmanStephen W Scherer

Published in: Journal of neurodevelopmental disorders (2019)

Disruption of DMXL2 may predispose to NDDs including autism spectrum disorder. The robust interpretation of private variants requires a multifaceted approach that incorporates multigenerational pedigrees and genome-wide and population-scale data.

Keyphrases

copy number
genome wide
autism spectrum disorder
mitochondrial dna
dna methylation
electronic health record
healthcare
intellectual disability
attention deficit hyperactivity disorder
health insurance
big data
prefrontal cortex
data analysis
transcription factor
artificial intelligence