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Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders.


ABSTRACT:

Background

Neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD) and intellectual disability (ID), are common diagnoses with highly heterogeneous phenotypes and etiology. The genetics-first approach to research on NDDs has led to the identification of hundreds of genes conferring risk for ASD, ID, and related symptoms.

Main body

Although relatively few individuals with NDDs share likely gene-disruptive (LGD) mutations in the same gene, characterization of overlapping functions, protein networks, and temporospatial expression patterns among these genes has led to increased understanding of the neurobiological etiology of NDDs. This shift in focus away from single genes and toward broader gene-brain-behavior pathways has been accelerated by the developm

SUBMITTER: Arnett AB 

PROVIDER: S-EPMC8215789 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature