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Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.

Molecular psychiatry - 1 Sept 2017

Li Jinchen, Wang Lin, Guo Hui, Shi Leisheng, Zhang Kun, Tang Meina, Hu Shanshan, Dong Shanshan, Liu Yanling, Wang Tianyun, Yu Ping, He Xin, Hu Zhengmao, Zhao Jinping, Liu Chunyu, Sun Zhong Sheng, Xia Kun

Abstract excerpt

Autism spectrum disorder (ASD) represents a set of complex neurodevelopmental disorders with large degrees of heritability and heterogeneity. We sequenced 136 microcephaly or macrocephaly (Mic-Mac)-related genes and 158 possible ASD-risk genes in 536 Chinese ASD probands and detected 22 damaging de novo mutations (DNMs) in 20 genes, including CHD8 and SCN2A, with recurrent events. Nine of the 20 genes were...

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PMID: 28831199
DOI: 10.1038/mp.2017.140

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CHD8

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