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Diverse mutations in autism-related genes and their expression in the developing brain

Across >150,000 individuals, we identified hundreds of genes associated with autism spectrum disorder (ASD) and atypical neurodevelopment. Most ASD-related genes were also associated with developmental delay. However, increased mutation rates in ASD and shared genetic risk with schizophrenia was observed for some genes, many of which are enriched in developing neurons.

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Fig. 1: Integrated gene discovery in NDDs.


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This is a summary of: Fu, J. M. et al. Rare coding variation provides insight into the genetic architecture and phenotypic context of autism. Nat. Genet. (2022).

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Diverse mutations in autism-related genes and their expression in the developing brain. Nat Genet 54, 1263–1264 (2022).

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