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 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 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 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 2019

Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform

por Liu, Yanqiu, Mao, Liangwei, Huang, Hui, Li, Wei, Man, Jianfen, Zhang, Wenqian, Wang, Lina, Li, Long, Sun, Yan, Zhai, Teng, Guo, Xueqin, Du, Lique, Huang, Jin, Li, Hao, Wan, Yang, Wei, Xiaoming
Publicado 2023

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 2018