Article
Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort.
Clinical genetics - 1 Feb 2020
Wu Huidan, Li Honghui, Bai Ting, Han Lin, Ou Jianjun, Xun Guanglei, Zhang Yu, Wang Yazhe, Duan Guiqin, Zhao Ningxia, Chen Biyuan, Du Xiaogang, Yao Meiling, Zou Xiaobing, Zhao Jingping, Hu Zhengmao, Eichler Evan E, Guo Hui, Xia Kun
Abstract excerpt
The genotype-first approach has been successfully applied and has elucidated several subtypes of autism spectrum disorder (ASD). However, it requires very large cohorts because of the extensive genetic heterogeneity. We investigate the alternate possibility of whether phenotype-specific genes can be identified from a small group of patients with specific phenotype(s). To identify novel genes associated with ASD...
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