Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome

por Zhang, Rui, Chen, Shaoyun, Han, Peng, Chen, Fangfang, Kuang, Shan, Meng, Zhuo, Liu, Junnian, Sun, Ruliang, Wang, Zhiwei, He, Xiaohong, Li, Yong, Guan, Yuanning, Yue, Zhengfang, Li, Chen, Kumar Dey, Subrata, Zhu, Yuanfang, Banerjee, Santasree
Publicado 2019

Identification and functional characterization of mutations in LPL gene causing severe hypertriglyceridaemia and acute pancreatitis

por Han, Peng, Wei, Guohong, Cai, Ke, Xiang, Xi, Deng, Wang Ping, Li, Yan Bing, Kuang, Shan, Dong, Zhanying, Zheng, Tianyu, Luo, Yonglun, Liu, Junnian, Guan, Yuanning, Li, Chen, Dey, Subrata Kumar, Liao, Zhihong, Banerjee, Santasree
Publicado 2020

A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China

por Jian, Min, Wang, Xiaohong, Sui, Yuanyuan, Fang, Mingyan, Feng, Chenchen, Huang, Yingping, Liu, Chunhua, Guo, Ruidong, Guan, Yuanning, Gao, Yuxiao, Wang, Zhiwei, Li, Shuli, Cheng, Bochen, Sun, Lina, Cui, Fenghua, Guo, Jia, Zhan, Ying, Zhang, Guohong, Zheng, Ling, Su, Fengxia, Xue, Wei, Qian, Puyi, Gao, Shaobo, Chen, Jiayu, Guan, Lingyao, Lu, Haorong, Kristiansen, Karsten, Jin, Xin, Chen, Fang, Zhao, Yuhuan, Hammarström, Lennart, Jiang, Xiaojing, Liu, Junnian, Gao, Ya
Publicado 2022