1. A novel start codon variant in SMCHD1 from a Chinese family causes facioscapulohumeral muscular dystrophy type 2. Issue 22 (20th November 2021) Authors: Qiu, Liang-Liang; Lin, Xiao-Dan; Xu, Guo-Rong; Wang, Li-Li; Ye, Zhi-Xian; Lin, Feng; Chen, Hai-Zhu; Lin, Min-Ting; Cai, Nai-Qing; Jin, Ming; Xu, Liu-Qing; Hu, Wei; Wang, Ning; Wang, Zhi-Qiang Editors: Guo, Li-Shao Journal: Chinese medical journal Issue: Volume 134:Issue 22(2021) Page Start: 2753 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Disruption of splicing-regulatory elements using CRISPR/Cas9 to rescue spinal muscular atrophy in human iPSCs and mice. Issue 1 (3rd September 2019) Authors: Li, Jin-Jing; Lin, Xiang; Tang, Cheng; Lu, Ying-Qian; Hu, Xinde; Zuo, Erwei; Li, He; Ying, Wenqin; Sun, Yidi; Lai, Lu-Lu; Chen, Hai-Zhu; Guo, Xin-Xin; Zhang, Qi-Jie; Wu, Shuang; Zhou, Changyang; Shen, Xiaowen; Wang, Qifang; Lin, Min-Ting; Ma, Li-Xiang; Wang, Ning Journal: National science review Issue: Volume 7:Issue 1(2020) Page Start: 92 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗