A novel GJB1 mutation associated with X‐linked Charcot–Marie–Tooth disease in a large Chinese family pedigree

Por Yingdi Liu, Jinjie Xue, Zhuo Li, Siyuan Linpeng, Hu Tan, Yanling Teng, Desheng Liang, Lingqian Wu
Publicado em 2020-03-01

Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome

Por Jing Liu, Pengsiyuan Lin, Jialun Pang, Zhengjun Jia, Ying Peng, Hui Xi, Lingqian Wu, Zhuo Li, Hua Wang
Publicado em 2020-08-01

REDBot: Natural language process methods for clinical copy number variation reporting in prenatal and products of conception diagnosis

Por Mengmeng Liu, Yunshan Zhong, Hongqian Liu, Desheng Liang, Erhong Liu, Yu Zhang, Feng Tian, Qiaowei Liang, David S. Cram, Hua Wang, Lingqian Wu, Fuli Yu
Publicado em 2020-11-01