Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases

Por Liu, Yanqiu, Wei, Xiaoming, Kong, Xiangdong, Guo, Xueqin, Sun, Yan, Man, Jianfen, Du, Lique, Zhu, Hui, Qu, Zelan, Tian, Ping, Mao, Bing, Yang, Yun
Publicado no PLoS One (2015)

Correction: Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases

Por Liu, Yanqiu, Wei, Xiaoming, Kong, Xiangdong, Guo, Xueqin, Sun, Yan, Man, Jianfen, Du, Lique, Zhu, Hui, Qu, Zelan, Tian, Ping, Mao, Bing, Yang, Yun
Publicado no PLoS One (2015)

Correction: Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases

Por Liu, Yanqiu, Wei, Xiaoming, Kong, Xiangdong, Guo, Xueqin, Sun, Yan, Man, Jianfen, Du, Lique, Zhu, Hui, Qu, Zelan, Tian, Ping, Mao, Bing, Yang, Yun
Publicado no PLoS One (2016)

Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform

Por Sun, Yan, Yuan, Jing, Wu, Limin, Li, Min, Cui, Xiaoli, Yan, Chengbin, Du, Lique, Mao, Liangwei, Man, Jianfen, Li, Wei, Kristiansen, Karsten, Wu, Xuan, Pan, Weijun, Yang, Yun
Publicado no Medicine (Baltimore) (2019)

Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study

Por Sun, Yan, Man, Jianfen, Wan, Yang, Pan, Gao, Du, Lique, Li, Long, Yang, Yun, Qiu, Liru, Gao, Qing, Dan, Handong, Mao, Liangwei, Cheng, Zhengyu, Fan, Chen, Yu, Jing, Lin, Mufei, Kristiansen, Karsten, Shen, Yin, Wei, Xiaoming
Publicado no Sci Rep (2018)