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RNA Interference Prevents Autosomal-Dominant Hearing Loss.
Shibata SB, Ranum PT, Moteki H, Pan B, Goodwin AT, Goodman SS, Abbas PJ, Holt JR, Smith RJH. Shibata SB, et al. Am J Hum Genet. 2016 Jun 2;98(6):1101-1113. doi: 10.1016/j.ajhg.2016.03.028. Epub 2016 May 26. Am J Hum Genet. 2016. PMID: 27236922 Free PMC article.
TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.
Azaiez H, Booth KT, Bu F, Huygen P, Shibata SB, Shearer AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ. Azaiez H, et al. Among authors: shibata sb. Hum Mutat. 2014 Jul;35(7):819-23. doi: 10.1002/humu.22557. Epub 2014 May 6. Hum Mutat. 2014. PMID: 24729539 Free PMC article.
HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.
Azaiez H, Decker AR, Booth KT, Simpson AC, Shearer AE, Huygen PL, Bu F, Hildebrand MS, Ranum PT, Shibata SB, Turner A, Zhang Y, Kimberling WJ, Cornell RA, Smith RJ. Azaiez H, et al. Among authors: shibata sb. PLoS Genet. 2015 Mar 27;11(3):e1005137. doi: 10.1371/journal.pgen.1005137. eCollection 2015 Mar. PLoS Genet. 2015. PMID: 25816005 Free PMC article.
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
Sloan-Heggen CM, Bierer AO, Shearer AE, Kolbe DL, Nishimura CJ, Frees KL, Ephraim SS, Shibata SB, Booth KT, Campbell CA, Ranum PT, Weaver AE, Black-Ziegelbein EA, Wang D, Azaiez H, Smith RJH. Sloan-Heggen CM, et al. Among authors: shibata sb. Hum Genet. 2016 Apr;135(4):441-450. doi: 10.1007/s00439-016-1648-8. Epub 2016 Mar 11. Hum Genet. 2016. PMID: 26969326 Free PMC article.
Gene therapy for hearing loss.
Omichi R, Shibata SB, Morton CC, Smith RJH. Omichi R, et al. Among authors: shibata sb. Hum Mol Genet. 2019 Oct 1;28(R1):R65-R79. doi: 10.1093/hmg/ddz129. Hum Mol Genet. 2019. PMID: 31227837 Free PMC article. Review.
29 results