A de novo convergence of autism genetics and molecular neuroscience

Highlights • Exome sequencing has identified rare mutations and novel genes in ASD and ID cases. • Targeted resequencing has confirmed association for several novel genes. • Results from exome sequencing of 1058 families suggests a convergence of functional pathways. • We review genetic and neurobio...

Full description

Saved in:
Bibliographic Details
Published in:Trends in neurosciences (Regular ed.) 2014-02, Vol.37 (2), p.95-105
Main Authors: Krumm, Niklas, O’Roak, Brian J, Shendure, Jay, Eichler, Evan E
Format: Article
Language:English
Subjects:
Autism
autism genetics
autism spectrum disorder
Autistic Disorder - genetics
Chromatin
copy number variant
Exome - genetics
exome sequencing
Genes
Genetic Predisposition to Disease
Genetics
Humans
intellectual disability
Kinases
Neurobiology
Neurology
Neurosciences
Neurosciences - trends
Phosphorylation
single nucleotide variant
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Highlights • Exome sequencing has identified rare mutations and novel genes in ASD and ID cases. • Targeted resequencing has confirmed association for several novel genes. • Results from exome sequencing of 1058 families suggests a convergence of functional pathways. • We review genetic and neurobiological evidence for chromatin, wnt, and synaptic function pathways.
ISSN:0166-2236
1878-108X
DOI:10.1016/j.tins.2013.11.005