Elsevier, Neuron, Volume 100, 24 October 2018
Lost in Translation: Traversing the Complex Path from Genomics to Therapeutics in Autism Spectrum Disorder
Recent progress in the genomics of non-syndromic autism spectrum disorder (nsASD) highlights rare, large-effect, germline, heterozygous de novo coding mutations. This distinguishes nsASD from later-onset psychiatric disorders where gene discovery efforts have predominantly yielded common alleles of small effect. These differences point to distinctive opportunities for clarifying the neurobiology of nsASD and developing novel treatments.