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Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model

BACKGROUND: We previously performed targeted sequencing of autism risk genes in probands from the Autism Clinical and Genetic Resources in China (ACGC) (phase I). Here, we expand this analysis to a larger cohort of patients (ACGC phase II) to better understand the prevalence, inheritance, and genoty...

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Pubblicato in:Mol Autism
Autori principali: Guo, Hui, Wang, Tianyun, Wu, Huidan, Long, Min, Coe, Bradley P., Li, Honghui, Xun, Guanglei, Ou, Jianjun, Chen, Biyuan, Duan, Guiqin, Bai, Ting, Zhao, Ningxia, Shen, Yidong, Li, Yun, Wang, Yazhe, Zhang, Yu, Baker, Carl, Liu, Yanling, Pang, Nan, Huang, Lian, Han, Lin, Jia, Xiangbin, Liu, Cenying, Ni, Hailun, Yang, Xinyi, Xia, Lu, Chen, Jingjing, Shen, Lu, Li, Ying, Zhao, Rongjuan, Zhao, Wenjing, Peng, Jing, Pan, Qian, Long, Zhigao, Su, Wei, Tan, Jieqiong, Du, Xiaogang, Ke, Xiaoyan, Yao, Meiling, Hu, Zhengmao, Zou, Xiaobing, Zhao, Jingping, Bernier, Raphael A., Eichler, Evan E., Xia, Kun
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2018
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6293633/
https://ncbi.nlm.nih.gov/pubmed/30564305
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13229-018-0247-z
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