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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: bayazit ya. 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.
GJB2 gene mutations causing familial hereditary deafness in Turkey.
Bayazit YA, Cable BB, Cataloluk O, Kara C, Chamberlin P, Smith RJ, Kanlikama M, Ozer E, Cakmak EA, Mumbuc S, Arslan A. Bayazit YA, et al. Int J Pediatr Otorhinolaryngol. 2003 Dec;67(12):1331-5. doi: 10.1016/j.ijporl.2003.08.003. Int J Pediatr Otorhinolaryngol. 2003. PMID: 14643477
150 results