Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia

by Yongjiang Zheng, Jiehua Xu, Shengran Liang, Dongjun Lin, Santasree Banerjee
Published 2018-04-01

An LMNB1 Duplication Caused Adult-Onset Autosomal Dominant Leukodystrophy in Chinese Family: Clinical Manifestations, Neuroradiology and Genetic Diagnosis

by Yi Dai, Yaling Ma, Shengde Li, Santasree Banerjee, Shengran Liang, Qing Liu, Yinchang Yang, Bin Peng, Liying Cui, Liying Cui, Liri Jin
Published 2017-07-01

Corrigendum: Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family With Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in C...

by Lin Yang, Santasree Banerjee, Jie Cao, Xiaohong Bai, Zhijun Peng, Haixia Chen, Hui Huang, Peng Han, Shunyu Feng, Na Yi, Xueru Song, Jing Wu
Published 2018-04-01

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

Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family with Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastr...

by Lin Yang, Santasree Banerjee, Jie Cao, Xiaohong Bai, Zhijun Peng, Haixia Chen, Hui Huang, Peng Han, Shunyu Feng, Na Yi, Xueru Song, Jing Wu
Published 2018-02-01

KVarPredDB: a database for predicting pathogenicity of missense sequence variants of keratin genes associated with genodermatoses

by Yuyi Ying, Lu Lu, Santasree Banerjee, Lizhen Xu, Qiang Zhao, Hao Wu, Ruiqi Li, Xiao Xu, Hua Yu, Dante Neculai, Yongmei Xi, Fan Yang, Jiale Qin, Chen Li
Published 2020-12-01

Targeted Next Generation Sequencing Revealed a Novel Homozygous Loss-of-Function Mutation in ILDR1 Gene Causes Autosomal Recessive Nonsyndromic Sensorineural Hearing Loss in a Chin...

by Jinxia An, Jie Yang, Yan Wang, Yanxia Wang, Baicheng Xu, Guangmei Xie, Sanming Chai, Xiaoling Liu, Sijuan Xu, Xiaoxiao Wen, Qing He, Huijun Liu, Chen Li, Subrata Kumar Dey, Yali Ni, Santasree Banerjee
Published 2019-02-01

A comprehensive assessment of Next‐Generation Sequencing variants validation using a secondary technology

by Jianchao Zheng, Hongyun Zhang, Santasree Banerjee, Yun Li, Junyu Zhou, Qian Yang, Xuemei Tan, Peng Han, Qinmei Fu, Xiaoli Cui, Yuying Yuan, Meiyan Zhang, Ruiqin Shen, Haifeng Song, Xiuqing Zhang, Lijian Zhao, Zhiyu Peng, Wei Wang, Ye Yin
Published 2019-07-01

Comparative analysis of clonal evolution among patients with right- and left-sided colon and rectal cancer

by Santasree Banerjee, Xianxiang Zhang, Shan Kuang, Jigang Wang, Lei Li, Guangyi Fan, Yonglun Luo, Shuai Sun, Peng Han, Qingyao Wu, Shujian Yang, Xiaobin Ji, Yong Li, Li Deng, Xiaofen Tian, Zhiwei Wang, Yue Zhang, Kui Wu, Shida Zhu, Lars Bolund, Huanming Yang, Xun Xu, Junnian Liu, Yun Lu, Xin Liu
Published 2021-07-01

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