1. Genetic origin of sporadic cases and RNA toxicity in neuronal intranuclear inclusion disease. Issue 5 (25th March 2021) Authors: Deng, Jianwen; Zhou, Binbin; Yu, Jiaxi; Han, Xiaochen; Fu, Jianhui; Li, Xiaobin; Xie, Xufang; Zhu, Min; Zheng, Yilei; Guo, Xueyu; Li, Pidong; Wang, Qingqing; Liu, Jing; Zhang, Wei; Yuan, Yun; Yao, Sheng; Wang, Zhaoxia; Hong, Daojun Journal: Journal of medical genetics Issue: Volume 59:Issue 5(2022) Page Start: 462 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy. Issue 6 (4th May 2021) Authors: Yu, Jiaxi; Luan, Xing‐hua; Yu, Meng; Zhang, Wei; Lv, He; Cao, Li; Meng, Lingchao; Zhu, Min; Zhou, Binbin; Wu, Xiao‐rong; Li, Pidong; Gang, Qiang; Liu, Jing; Shi, Xin; Liang, Wei; Jia, Zhirong; Yao, Sheng; Yuan, Yun; Deng, Jianwen; Hong, Daojun Journal: Annals of clinical and translational neurology Issue: Volume 8:Issue 6(2021) Page Start: 1330 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Long-read sequencing identified repeat expansions in the 5′UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease. Issue 11 (14th August 2019) Authors: Deng, Jianwen; Gu, Muliang; Miao, Yu; Yao, Sheng; Zhu, Min; Fang, Pu; Yu, Xuefan; Li, Pidong; Su, Yanan; Huang, Jian; Zhang, Jun; Yu, Jiaxi; Li, Fan; Bai, Jing; Sun, Wei; Huang, Yining; Yuan, Yun; Hong, Daojun; Wang, Zhaoxia Journal: Journal of medical genetics Issue: Volume 56:Issue 11(2019) Page Start: 758 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Noncarrier embryo selection and transfer in preimplantation genetic testing cycles for reciprocal translocation by Oxford Nanopore Technologies. (20th November 2020) Authors: Gao, Ming; Wang, Lijuan; Xu, Peiwen; Xie, Hongqiang; Liu, Xiaowei; Huang, Sexin; Zou, Yang; Li, Jie; Wang, Yang; Li, Pidong; Gao, Yuan; Chen, Zijiang Journal: Journal of genetics and genomics Issue: Volume 47:Number 11(2020) Page Start: 718 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Single-molecule optical mapping enables quantitative measurement of D4Z4 repeats in facioscapulohumeral muscular dystrophy (FSHD). Issue 2 (10th September 2019) Authors: Dai, Yi; Li, Pidong; Wang, Zhiqiang; Liang, Fan; Yang, Fan; Fang, Li; Huang, Yu; Huang, Shangzhi; Zhou, Jiapeng; Wang, Depeng; Cui, Liying; Wang, Kai Journal: Journal of medical genetics Issue: Volume 57:Issue 2(2020) Page Start: 109 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Study of complex structural variations of X-linked deafness-2 based on single-molecule sequencing. Issue 6 (25th June 2021) Authors: Jiang, Yi; Wu, Lihua; Huang, Shasha; Li, Pidong; Gao, Bo; Yuan, Yongyi; Zhang, Siwen; Yu, Guoliang; Gao, Yong; Wu, Hao; Dai, Pu Journal: Bioscience reports Issue: Volume 41:Issue 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗