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Autism spectrum disorders (ASD) are a collection of etiologically diverse and overlapping syndromes that share the core diagnostic features of fundamental impairments in reciprocal social communication and highly restricted interests and/or repetitive behaviors. Dramatic progress in the genomics of ASD has emerged as a consequence of rapidly advancing genomic technologies; a highly productive focus on rare and de novo mutations; the consolidation of large patient and family cohorts of sufficient size to power systematic discovery efforts; highly effective partnerships among governmental agencies, advocacy groups, and philanthropy to support research; and an early and sustained commitment to data sharing across the ASD genomics community. These forces have resulted in a rapidly increasing number of risk genes and regions and an emerging picture of the genomic architecture of ASD. Despite challenges imparted by identifying extreme locus and allelic heterogeneity, initial efforts at characterizing the underlying mechanisms of ASD have shown a surprising degree of convergence with regard to molecular mechanisms, anatomical regions, and developmental epochs.

Original publication





Book title

Genomics, Circuits, and Pathways in Clinical Neuropsychiatry

Publication Date



443 - 465