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

Por Chen, Meiyan, Wu, Jing, Liang, Ning, Tang, Lihui, Chen, Yanhua, Chen, Huishuang, Wei, Wei, Wei, Tianying, Huang, Hui, Yi, Xin, Qi, Ming
Publicado no Genomics Proteomics Bioinformatics (2014)

A novel pathogenic large germline deletion in adenomatous polyposis coli gene in a Chinese family with familial adenomatous polyposis

Por Zhang, Zhao, Liang, Shengran, Huang, Hui, Wang, Dan, Zhang, Xipeng, Wu, Jing, Chen, Huishuang, Wang, Yanyan, Rong, Tingting, Zhou, Yulin, Banerjee, Santasree
Publicado no Oncotarget (2016)

Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly...

Por Banerjee, Santasree, Chen, Huishuang, Huang, Hui, Wu, Jing, Yang, Zhiyun, Deng, Weiping, Chen, Dongna, Deng, Jianlian, Su, Yan, Li, Yang, Wu, Chao, Wang, Ye, Zeng, Hao, Wang, Yiming, Li, Xunhua
Publicado no Oncotarget (2016)

Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber’s congenital amaurosis in unrelated Chinese patients

Por Huang, Hui, Wang, Ying, Chen, Huishuang, Chen, Yanhua, Wu, Jing, Chiang, Pei-Wen, Fan, Ning, Su, Yan, Deng, Jianlian, Chen, Dongna, Li, Yang, Zhang, Xinxin, Zhang, Mengxin, Liang, Shengran, Banerjee, Santasree, Qi, Ming, Liu, Xuyang
Publicado no Oncotarget (2017)

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

Por Huang, Hui, Chen, Yanhua, Chen, Huishuang, Ma, Yuanyuan, Chiang, Pei-Wen, Zhong, Jing, Liu, Xuyang, Asan, Wu, Jing, Su, Yan, Li, Xin, Deng, Jianlian, Huang, Yingping, Zhang, Xinxin, Li, Yang, Fan, Ning, Wang, Ying, Tang, Lihui, Shen, Jinting, Chen, Meiyan, Zhang, Xiuqing, Te, Deng, Banerjee, Santasree, Liu, Hui, Qi, Ming, Yi, Xin
Publicado no PLoS One (2018)