EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome

by Li, Chuan, Chen, Rongyu, Fan, Xin, Luo, Jingsi, Qian, Jiale, Wang, Jin, Xie, Bobo, Shen, Yiping, Chen, Shaoke
Published 2015

Clinical and molecular evaluations of siblings with “pure” 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3)

by Chen, Rongyu, Li, Chuan, Xie, Bobo, Wang, Jin, Fan, Xin, Luo, Jingsi, Hu, Xuyun, Chen, Shaoke, Shen, Yiping
Published 2014

Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability

by Zhang, Shujie, Qin, Haisong, Wang, Jin, OuYang, Luping, Luo, Shiyu, Fu, Chunyun, Fan, Xin, Su, Jiasun, Chen, Rongyu, Xie, Bobo, Hu, Xuyun, Chen, Shaoke, Shen, Yiping
Published 2016

A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features

by Xie, Bobo, Fan, Xin, Lei, Yaqin, Chen, Rongyu, Wang, Jin, Fu, Chunyun, Yi, Shang, Luo, Jingsi, Zhang, Shujie, Yang, Qi, Chen, Shaoke, Shen, Yiping
Published 2016

Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidism

by Fu, Chunyun, Xie, Bobo, Zhang, Shujie, Wang, Jin, Luo, Shiyu, Zheng, Haiyang, Su, Jiasun, Hu, Xuyun, Chen, Rongyu, Fan, Xin, Luo, Jingsi, Gu, Xuefan, Chen, Shaoke
Published 2016

Genome-wide association study identifies 8p21.3 associated with persistent hepatitis B virus infection among Chinese

by Li, Yuanfeng, Si, Lanlan, Zhai, Yun, Hu, Yanling, Hu, Zhibin, Bei, Jin-Xin, Xie, Bobo, Ren, Qian, Cao, Pengbo, Yang, Fei, Song, Qingfeng, Bao, Zhiyu, Zhang, Haitao, Han, Yuqing, Wang, Zhifu, Chen, Xi, Xia, Xia, Yan, Hongbo, Wang, Rui, Zhang, Ying, Gao, Chengming, Meng, Jinfeng, Tu, Xinyi, Liang, Xinqiang, Cui, Ying, Liu, Ying, Wu, Xiaopan, Li, Zhuo, Wang, Huifen, Li, Zhaoxia, Hu, Bo, He, Minghui, Gao, Zhibo, Xu, Xiaobing, Ji, Hongzan, Yu, Chaohui, Sun, Yi, Xing, Baocai, Yang, Xiaobo, Zhang, Haiying, Tan, Aihua, Wu, Chunlei, Jia, Weihua, Li, Shengping, Zeng, Yi-Xin, Shen, Hongbing, He, Fuchu, Mo, Zengnan, Zhang, Hongxing, Zhou, Gangqiao
Published 2016