1. Alazami, Anas M, Patel, Nisha, Shamseldin, Hanan E, Monies, Dorota M, Alkuraya, Fowzan S. 2014. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. In Cell reports, 10, 148-61. doi:10.1016/j.celrep.2014.12.015. https://pubmed.ncbi.nlm.nih.gov/25558065/
2. Xu, Chen, Zhang, Ge, Wang, Xinjian, Song, Long-Sheng, Han, Peidong. 2024. Ptpn23 Controls Cardiac T-Tubule Patterning by Promoting the Assembly of Dystrophin-Glycoprotein Complex. In Circulation, 149, 1375-1390. doi:10.1161/CIRCULATIONAHA.123.065767. https://pubmed.ncbi.nlm.nih.gov/38214189/
3. Gingras, Marie-Claude, Kazan, Jalal M, Pause, Arnim. . Role of ESCRT component HD-PTP/PTPN23 in cancer. In Biochemical Society transactions, 45, 845-854. doi:10.1042/BST20160332. https://pubmed.ncbi.nlm.nih.gov/28620046/
4. Song, Dongyan, Cen, Yuxin, Qian, Zhe, Vakoc, Christopher R, Tonks, Nicholas K. 2024. PTPN23-dependent ESCRT machinery functions as a cell death checkpoint. In Nature communications, 15, 10364. doi:10.1038/s41467-024-54749-2. https://pubmed.ncbi.nlm.nih.gov/39609437/
5. Trujillano, Daniel, Bertoli-Avella, Aida M, Kumar Kandaswamy, Krishna, Rolfs, Arndt, Abou Jamra, Rami. 2016. Clinical exome sequencing: results from 2819 samples reflecting 1000 families. In European journal of human genetics : EJHG, 25, 176-182. doi:10.1038/ejhg.2016.146. https://pubmed.ncbi.nlm.nih.gov/27848944/
6. Khalaf-Nazzal, Reham, Fasham, James, Ubeyratna, Nishanka, Baple, Emma L, Crosby, Andrew H. 2021. Final Exon Frameshift Biallelic PTPN23 Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia. In Brain sciences, 11, . doi:10.3390/brainsci11050614. https://pubmed.ncbi.nlm.nih.gov/34064836/
智鼠故事 
