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

Getting to the Cores of Autism.

Author information

1
University of California San Diego, Department of Psychiatry, La Jolla, CA 92093, USA.
2
University of California San Diego, School of Medicine, Department of Cellular & Molecular Medicine, La Jolla, CA 92093, USA; University of California San Diego, School of Medicine, Department of Pediatrics/Rady Children's Hospital San Diego, La Jolla, CA 92093, USA; University of California San Diego, Kavli Institute for Brain and Mind, La Jolla, CA 92093, USA; Center for Academic Research and Training in Anthropogeny (CARTA), La Jolla, CA 92093, USA.
3
University of California San Diego, Department of Psychiatry, La Jolla, CA 92093, USA; University of California San Diego, School of Medicine, Department of Cellular & Molecular Medicine, La Jolla, CA 92093, USA; University of California San Diego, Beyster Center for Psychiatric Genomics, La Jolla, CA 92093. Electronic address: jsebat@ucsd.edu.

Abstract

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.

PMID:
31491383
DOI:
10.1016/j.cell.2019.07.037

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