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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: ranum pt. 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.
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: ranum pt. 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.
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. Among authors: ranum pt. 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.
Immortalized striatal precursor neurons from Huntington's disease patient-derived iPS cells as a platform for target identification and screening for experimental therapeutics.
Akimov SS, Jiang M, Kedaigle AJ, Arbez N, Marque LO, Eddings CR, Ranum PT, Whelan E, Tang A, Wang R, DeVine LR, Talbot CC, Cole RN, Ratovitski T, Davidson BL, Fraenkel E, Ross CA. Akimov SS, et al. Among authors: ranum pt. Hum Mol Genet. 2021 Nov 30;30(24):2469-2487. doi: 10.1093/hmg/ddab200. Hum Mol Genet. 2021. PMID: 34296279 Free PMC article.
20 results