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Page 1
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: eppsteiner rw. 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.
AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening.
Taylor KR, Deluca AP, Shearer AE, Hildebrand MS, Black-Ziegelbein EA, Anand VN, Sloan CM, Eppsteiner RW, Scheetz TE, Huygen PL, Smith RJ, Braun TA, Casavant TL. Taylor KR, et al. Among authors: eppsteiner rw. Hum Mutat. 2013 Apr;34(4):539-45. doi: 10.1002/humu.22268. Epub 2013 Feb 19. Hum Mutat. 2013. PMID: 23280582 Free PMC article.
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: eppsteiner rw. 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.
Genetic disorders of the vestibular system.
Eppsteiner RW, Smith RJ. Eppsteiner RW, et al. Curr Opin Otolaryngol Head Neck Surg. 2011 Oct;19(5):397-402. doi: 10.1097/MOO.0b013e32834a9852. Curr Opin Otolaryngol Head Neck Surg. 2011. PMID: 21825995 Free PMC article. Review.
Using the phenome and genome to improve genetic diagnosis for deafness.
Eppsteiner RW, Shearer AE, Hildebrand MS, Taylor KR, Deluca AP, Scherer S, Huygen P, Scheetz TE, Braun TA, Casavant TL, Smith RJ. Eppsteiner RW, et al. Otolaryngol Head Neck Surg. 2012 Nov;147(5):975-7. doi: 10.1177/0194599812454271. Epub 2012 Jul 11. Otolaryngol Head Neck Surg. 2012. PMID: 22785243 Free PMC article. No abstract available.
Audioprofile Surfaces: The 21st Century Audiogram.
Taylor KR, Booth KT, Azaiez H, Sloan CM, Kolbe DL, Glanz EN, Shearer AE, DeLuca AP, Anand VN, Hildebrand MS, Simpson AC, Eppsteiner RW, Scheetz TE, Braun TA, Huygen PL, Smith RJ, Casavant TL. Taylor KR, et al. Among authors: eppsteiner rw. Ann Otol Rhinol Laryngol. 2016 May;125(5):361-8. doi: 10.1177/0003489415614863. Epub 2015 Nov 3. Ann Otol Rhinol Laryngol. 2016. PMID: 26530094 Free PMC article.
Leiomyosarcoma of the head and neck: a population-based analysis.
Eppsteiner RW, DeYoung BR, Milhem MM, Pagedar NA. Eppsteiner RW, et al. Arch Otolaryngol Head Neck Surg. 2011 Sep;137(9):921-4. doi: 10.1001/archoto.2011.147. Arch Otolaryngol Head Neck Surg. 2011. PMID: 21930982 Free PMC article.
15 results