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Advancing genetic testing for deafness with genomic technology.
Shearer AE, Black-Ziegelbein EA, Hildebrand MS, Eppsteiner RW, Ravi H, Joshi S, Guiffre AC, Sloan CM, Happe S, Howard SD, Novak B, Deluca AP, Taylor KR, Scheetz TE, Braun TA, Casavant TL, Kimberling WJ, Leproust EM, Smith RJ. Shearer AE, et al. Among authors: hildebrand ms. J Med Genet. 2013 Sep;50(9):627-34. doi: 10.1136/jmedgenet-2013-101749. Epub 2013 Jun 26. J Med Genet. 2013. PMID: 23804846 Free PMC article.
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.
Shearer AE, Eppsteiner RW, Booth KT, Ephraim SS, Gurrola J 2nd, Simpson A, Black-Ziegelbein EA, Joshi S, Ravi H, Giuffre AC, Happe S, Hildebrand MS, Azaiez H, Bayazit YA, Erdal ME, Lopez-Escamez JA, Gazquez I, Tamayo ML, Gelvez NY, Leal GL, Jalas C, Ekstein J, Yang T, Usami S, Kahrizi K, Bazazzadegan N, Najmabadi H, Scheetz TE, Braun TA, Casavant TL, LeProust EM, Smith RJ. Shearer AE, et al. Among authors: hildebrand ms. Am J Hum Genet. 2014 Oct 2;95(4):445-53. doi: 10.1016/j.ajhg.2014.09.001. Epub 2014 Sep 25. Am J Hum Genet. 2014. PMID: 25262649 Free PMC article.
A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family.
Shearer AE, Hildebrand MS, Bromhead CJ, Kahrizi K, Webster JA, Azadeh B, Kimberling WJ, Anousheh A, Nazeri A, Stephan D, Najmabadi H, Smith RJ, Bahlo M. Shearer AE, et al. Among authors: hildebrand ms. Am J Med Genet A. 2009 Mar;149A(3):555-8. doi: 10.1002/ajmg.a.32670. Am J Med Genet A. 2009. PMID: 19215054 Free PMC article. No abstract available.
Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population.
Hildebrand MS, Kahrizi K, Bromhead CJ, Shearer AE, Webster JA, Khodaei H, Abtahi R, Bazazzadegan N, Babanejad M, Nikzat N, Kimberling WJ, Stephan D, Huygen PL, Bahlo M, Smith RJ, Najmabadi H. Hildebrand MS, et al. Ann Otol Rhinol Laryngol. 2010 Dec;119(12):830-5. doi: 10.1177/000348941011901207. Ann Otol Rhinol Laryngol. 2010. PMID: 21250555 Free PMC article.
Deafness in the genomics era.
Shearer AE, Hildebrand MS, Sloan CM, Smith RJ. Shearer AE, et al. Among authors: hildebrand ms. Hear Res. 2011 Dec;282(1-2):1-9. doi: 10.1016/j.heares.2011.10.001. Epub 2011 Oct 8. Hear Res. 2011. PMID: 22016077 Free PMC article. Review.
Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis.
Eppsteiner RW, Shearer AE, Hildebrand MS, Deluca AP, Ji H, Dunn CC, Black-Ziegelbein EA, Casavant TL, Braun TA, Scheetz TE, Scherer SE, Hansen MR, Gantz BJ, Smith RJ. Eppsteiner RW, et al. Among authors: hildebrand ms. Hear Res. 2012 Oct;292(1-2):51-8. doi: 10.1016/j.heares.2012.08.007. Epub 2012 Aug 28. Hear Res. 2012. PMID: 22975204 Free PMC article.
190 results