Getting to the Cores of Autism

Cell. 2019 Sep 5;178(6):1287-1298. doi: 10.1016/j.cell.2019.07.037.


The genetic architecture of autism spectrum disorder (ASD) is itself a diverse allelic spectrum that consists of rare de novo or inherited variants in hundreds of genes and common polygenic risk at thousands of loci. ASD susceptibility genes are interconnected at the level of transcriptional and protein networks, and many function as genetic regulators of neurodevelopment or synaptic proteins that regulate neural activity. So that the core underlying neuropathologies can be further elucidated, we emphasize the importance of first defining subtypes of ASD on the basis of the phenotypic signatures of genes in model systems and humans.

Publication types

  • Review

MeSH terms

  • Animals
  • Autism Spectrum Disorder / genetics*
  • Cells, Cultured
  • DNA Copy Number Variations
  • Disease Models, Animal
  • Gene Regulatory Networks
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Multifactorial Inheritance / genetics*
  • Neurogenesis