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

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

Abstract 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, an...

Full description

Bibliographic Details
Main Authors: Hui Guo, Tianyun Wang, Huidan Wu, Min Long, Bradley P. Coe, Honghui Li, Guanglei Xun, Jianjun Ou, Biyuan Chen, Guiqin Duan, Ting Bai, Ningxia Zhao, Yidong Shen, Yun Li, Yazhe Wang, Yu Zhang, Carl Baker, Yanling Liu, Nan Pang, Lian Huang, Lin Han, Xiangbin Jia, Cenying Liu, Hailun Ni, Xinyi Yang, Lu Xia, Jingjing Chen, Lu Shen, Ying Li, Rongjuan Zhao, Wenjing Zhao, Jing Peng, Qian Pan, Zhigao Long, Wei Su, Jieqiong Tan, Xiaogang Du, Xiaoyan Ke, Meiling Yao, Zhengmao Hu, Xiaobing Zou, Jingping Zhao, Raphael A. Bernier, Evan E. Eichler, Kun Xia
Format: Article
Language:English
Published: BMC 2018-12-01
Series:Molecular Autism
Subjects:
Autism spectrum disorders
Targeted sequencing
De novo mutations
Multiple hit
Multifactorial model
Genotype–phenotype relationship
Online Access:http://link.springer.com/article/10.1186/s13229-018-0247-z

Internet

http://link.springer.com/article/10.1186/s13229-018-0247-z

Similar Items