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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: booth kt. 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.
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: booth kt. 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.
Hearing loss caused by a P2RX2 mutation identified in a MELAS family with a coexisting mitochondrial 3243AG mutation.
Moteki H, Azaiez H, Booth KT, Hattori M, Sato A, Sato Y, Motobayashi M, Sloan CM, Kolbe DL, Shearer AE, Smith RJ, Usami S. Moteki H, et al. Among authors: booth kt. Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1(1 0):177S-83S. doi: 10.1177/0003489415575045. Epub 2015 Mar 18. Ann Otol Rhinol Laryngol. 2015. PMID: 25788561 Free PMC article.
Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss.
Sakuma N, Moteki H, Azaiez H, Booth KT, Takahashi M, Arai Y, Shearer AE, Sloan CM, Nishio SY, Kolbe DL, Iwasaki S, Oridate N, Smith RJ, Usami S. Sakuma N, et al. Among authors: booth kt. Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1(1 0):184S-92S. doi: 10.1177/0003489415575041. Epub 2015 Mar 18. Ann Otol Rhinol Laryngol. 2015. PMID: 25788564 Free PMC article.
Mutations in LOXHD1 gene cause various types and severities of hearing loss.
Mori K, Moteki H, Kobayashi Y, Azaiez H, Booth KT, Nishio SY, Sato H, Smith RJ, Usami S. Mori K, et al. Among authors: booth kt. Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1(1 0):135S-41S. doi: 10.1177/0003489415574067. Epub 2015 Mar 19. Ann Otol Rhinol Laryngol. 2015. PMID: 25792669 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: booth kt. 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.
PDZD7 and hearing loss: More than just a modifier.
Booth KT, Azaiez H, Kahrizi K, Simpson AC, Tollefson WT, Sloan CM, Meyer NC, Babanejad M, Ardalani F, Arzhangi S, Schnieders MJ, Najmabadi H, Smith RJ. Booth KT, et al. Am J Med Genet A. 2015 Dec;167A(12):2957-65. doi: 10.1002/ajmg.a.37274. Epub 2015 Sep 29. Am J Med Genet A. 2015. PMID: 26416264 Free PMC article.
52 results