| Issue Date | Title | Author(s) | Relation | scopus | WOS | Fulltext/Archive link |
| 2020 | De novo mutation and skewed X‐inactivation in girl with BCAP31‐related syndrome | Kao, Hsiao-Jung; Chiang, Hung-Lun; Chen, Hsiao-Huei; Fan, Pi-Chuan; Tu, Yi-Fang; Chou, Yen-Yin; Hwu, Wuh-Liang; Lin, Chien-Ling ; Kwok, Pui-Yan ; Lee, Ni-Chung | Human Mutation 41(10), 1775-1782 | | | |
| 2024 | Highly efficient capture approach for the identification of diverse inherited retinal disorders | Kao, Hsiao-Jung; Lin, Ting-Yi; Hsieh, Feng-Jen; Chien, Jia-Ying; Yeh, Erh-Chan; Lin, Wan-Jia; Chen, Yi-Hua; Ding, Kai-Hsuan; Yang, Yu; Chi, Sheng-Chu; Tsai, Ping-Hsing; Hsu, Chih-Chien; Hwang, De-Kuang; Tsai, Hsien-Yang; Peng, Mei-Ling; Lee, Shi-Huang; Chau, Siu-Fung; Chen, Chen Yu; Cheang, Wai-Man; Chen, Shih-Jen; Kwok, Pui-Yan; Chiou, Shih-Hwa; Lu, Mei-Yeh Jade ; Huang, Shun-Ping | npj Genomic Medicine 9(1), 4 | | | |
| 2020 | Towards a reference genome that captures global genetic diversity | Wong, Karen H. Y.; Ma, Walfred; Wei, Chun-Yu; Yeh, Erh-Chan; Lin, Wan-Jia; Wang, Elin H. F.; Su, Jen-Ping; Hsieh, Feng-Jen; Kao, Hsiao-Jung; Chen, Hsiao-Huei; Chow, Stephen K.; Young, Eleanor; Chu, Catherine; Poon, Annie; Yang, Chi-Fan; Lin, Dar-Shong; Hu, Yu-Feng; Wu, Jer-Yuarn ; Lee, Ni-Chung; Hwu, Wuh-Liang; Boffelli, Dario; Martin, David; Xiao, Ming; Kwok, Pui-Yan | Nature Communications 11, 5482 | | | |
