Identification of A Novel SBF2 Frameshift Mutation in Charcot–Marie–Tooth Disease Type 4B2 Using Whole-exome Sequencing

by Meiyan Chen, Jing Wu, Ning Liang, Lihui Tang, Yanhua Chen, Huishuang Chen, Wei Wei, Tianying Wei, Hui Huang, Xin Yi, Ming Qi
Published 2014-10-01

A Novel MLH1 Initiation Codon Mutation (c.3G>T) in a Large Chinese Lynch Syndrome Family with Different Onset Age and mRNA Expression Level

by Yanni Zhang, Huishuang Chen, Zhiyu Peng, Santasree Banerjee, Wei Li, Zhaolong Zhao, Jianbin Sun, Jian Lv, Hui Huang, Ru Bai, Keke Lin, Zhongxin Li
Published 2018-01-01

Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa.

by Hui Huang, Yanhua Chen, Huishuang Chen, Yuanyuan Ma, Pei-Wen Chiang, Jing Zhong, Xuyang Liu, Asan, Jing Wu, Yan Su, Xin Li, Jianlian Deng, Yingping Huang, Xinxin Zhang, Yang Li, Ning Fan, Ying Wang, Lihui Tang, Jinting Shen, Meiyan Chen, Xiuqing Zhang, Deng Te, Santasree Banerjee, Hui Liu, Ming Qi, Xin Yi
Published 2018-01-01