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Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.
Lin Z, Zhao J, Nitoiu D, Scott CA, Plagnol V, Smith FJ, Wilson NJ, Cole C, Schwartz ME, McLean WH, Wang H, Feng C, Duo L, Zhou EY, Ren Y, Dai L, Chen Y, Zhang J, Xu X, O'Toole EA, Kelsell DP, Yang Y. Lin Z, et al. Among authors: chen y. Am J Hum Genet. 2015 Mar 5;96(3):440-7. doi: 10.1016/j.ajhg.2014.12.026. Epub 2015 Feb 12. Am J Hum Genet. 2015. PMID: 25683118 Free PMC article.
Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder.
Nafisinia M, Guo Y, Dang X, Li J, Chen Y, Zhang J, Lake NJ, Gold WA, Riley LG, Thorburn DR, Keating B, Xu X, Hakonarson H, Christodoulou J. Nafisinia M, et al. Among authors: chen y. JIMD Rep. 2017;32:117-124. doi: 10.1007/8904_2016_541. Epub 2016 Jun 26. JIMD Rep. 2017. PMID: 27344648 Free PMC article.
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.
Mancini C, Orsi L, Guo Y, Li J, Chen Y, Wang F, Tian L, Liu X, Zhang J, Jiang H, Nmezi BS, Tatsuta T, Giorgio E, Di Gregorio E, Cavalieri S, Pozzi E, Mortara P, Caglio MM, Balducci A, Pinessi L, Langer T, Padiath QS, Hakonarson H, Zhang X, Brusco A. Mancini C, et al. Among authors: chen y. BMC Med Genet. 2015 Mar 19;16:16. doi: 10.1186/s12881-015-0159-0. BMC Med Genet. 2015. PMID: 25927548 Free PMC article.
Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing.
Guo Y, Hwang LD, Li J, Eades J, Yu CW, Mansfield C, Burdick-Will A, Chang X, Chen Y, Duke FF, Zhang J, Fakharzadeh S, Fennessey P, Keating BJ, Jiang H, Hakonarson H, Reed DR, Preti G. Guo Y, et al. Among authors: chen y. BMC Med Genet. 2017 Feb 15;18(1):11. doi: 10.1186/s12881-017-0369-8. BMC Med Genet. 2017. PMID: 28196478 Free PMC article.
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