| Issue Date | Title | Author(s) |
| Oct-2022 | Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma- Congenital Alopecia Syndrome Type 2 | Yang, Fang; Jiang, Xingyuan; Zhu, Yuhao; Lee, Mingyang; Xu, Zhengren; Zhang, Jianglin; Li, Qian; Lin, Mao-Ying; Wang, Huijun; Lin, Zhimiao |
| 2015 | Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome | Wang, Huijun; Cao, Xu; Lin, Zhimiao; Lee, Mingyang; Jia, Xinying; Ren, Yali; Dai, Lanlan; Guan, Liping; Zhang, Jianguo; Lin, Xuan; Zhang, Jie; Chen, Quan; Feng, Cheng; Zhou, Eray Yihui; Yin, Jinghua; Xu, Guiwen; Yang, Yong |
| 2012 | Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome | Lin, Zhimiao; Chen, Quan; Lee, Mingyang; Cao, Xu; Zhang, Jie; Ma, Donglai; Chen, Long; Hu, Xiaoping; Wang, Huijun; Wang, Xiaowen; Zhang, Peng; Liu, Xuanzhu; Guan, Liping; Tang, Yiquan; Yang, Haizhen; Tu, Ping; Bu, Dingfang; Zhu, Xuejun; Wang, KeWei; Li, Ruoyu; Yang, Yong |
| 2019 | Gain-of-Function Mutations in TRPM4 Activation Gate Cause Progressive Symmetric Erythrokeratodermia | Wang, Huijun; Xu, Zhe; Lee, Bo Hyun; Vu, Simon; Hu, Linghan; Lee, Mingyang; Bu, Dingfang; Gao, Xu; Hwang, Samuel; Yang, Yong; Zheng, Jie; Lin, Zhimiao |
| 2019 | Gain-Of-Function Mutationsin TRPM4 Activation Gate Cause Skin Disease PSEK | Wang, Huijun; Xu, Zhe; Lee, Bo Hyun; Vu, Simon; Hu, Linghan; Lee, Mingyang; Bu, Dingfang; Cao, Xu; Hwang, Samuel; Yang, Yong; Zheng, Jie; Lin, Zhimiao |
| Mar-2021 | Genotype-Phenotype Correlation of TRPV3-Related Olmsted Syndrome | Zhong, Weilong; Hu, Linghan; Cao, Xu; Zhao, Jiahui; Zhang, Xianning; Lee, Mingyang; Wang, Huijun; Zhang, Jie; Chen, Quan; Feng, Cheng; Duo, Lina; Wang, Xiuli; Tang, Li; Lin, Zhimiao; Yang, Yong |
| Apr-2020 | Ichthyosis with confetti caused by new and recurrent mutations in KRT10 associated with varying degrees of keratin 10 mis-localization | Pan, Yuxue; Feng, Cheng; Wang, Huijun; Lee, Mingyang; Tang, Zhanli; Lin, Zhimiao |
| 2015 | ITGB4-associated Junctional Epidermolysis Bullosa without Pylori Atresia but Profound Genitourinary Involvement | Lee, Mingyang; Chen, Quan; Wang, Huijun; Zhang, Jie; Lin, Zhimiao; Yang, Yong |
| 2012 | Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia | Lin, Zhimiao; Chen, Quan; Shi, Lei; Lee, Mingyang; Giehl, Kathrin A.; Tang, Zhanli; Wang, Huijun; Zhang, Jie; Yin, Jinghua; Wu, Lingshen; Xiao, Ruo; Liu, Xuanzhu; Dai, Lanlan; Zhu, Xuejun; Li, Ruoyu; Betz, Regina C.; Zhang, Xue; Yang, Yong |
| 2-Jul-2020 | Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome | Wang, Huijun; Humbatova, Aytaj; Liu, Yuanxiang; Qin, Wen; Lee, Mingyang; Cesarato, Nicole; Kortuem, Fanny; Kumar, Sheetal; Romano, Maria Teresa; Dai, Shangzhi; Mo, Ran; Sivalingam, Sugirthan; Motameny, Susanne; Wu, Yuan; Wang, Xiaopeng; Niu, Xinwu; Geng, Songmei; Bornholdt, Dorothea; Kroisel, Peter M.; Tadini, Gianluca; Walter, Scott D.; Hauck, Fabian; Girisha, Katta M.; Calza, Anne-Marie; Bottani, Armand; Altmueller, Janine; Buness, Andreas; Yang, Shuxia; Sun, Xiujuan; Ma, Lin; Kutsche, Kerstin; Grzeschik, Karl-Heinz; Betz, Regina C.; Lin, Zhimiao |
| 2016 | Semidominant Inheritance in Olmsted Syndrome | Cao, Xu; Wang, Huijun; Li, Yanhong; Lee, Mingyang; Jiang, Liya; Zhou, Yun; Feng, Cheng; Lin, Zhimiao; Yang, Yong |
| 23-Jan-2023 | Variants in KLK11, affecting signal peptide cleavage of kallikrein-related peptidase 11, cause an autosomal-dominant cornification disorder | Gong, Zhuoqing; Dai, Shangzhi; Jiang, Xingyuan; Lee, Mingyang; Zhu, Xuejun; Wang, Huijun; Lin, Zhimiao |
