2002

Kurima K, Peters LM, Yang Y, Riazuddin S, Ahmed ZM, Naz S, Arnaud D, Drury S, Mo J, Makishima T, Ghosh M, Menon PSN, Deshmukh D, Oddoux C, Ostrer H, Khan S, Riazuddin S, Deininger PL, Hampton LL, Sullivan SL, Battey JFJr., Keats BJB, Wilcox ER, Friedman TB, Griffith AJ. (2002)
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function.
Nat Genet 30(3):277-284
Ahmed ZM, Smith TN, Riazuddin S, Makishima T, Ghosh M, Bokhari S, Menon PSN, Deshmukh D, Griffith AJ, Riazuddin S, Friedman TB, Wilcox ER. (2002)
Nonsyndromic Recessive Deafness DFNB18 and Usher Syndrome Type IC Are Allelic Mutations of USHIC.
Hum Genet 110:527–531
Naz S, Giguere CM, Kohrman DC, Mitchem KL, Riazuddin S, Morell RJ, Ramesh A, Srisailpathy S, Deshmukh D, Riazuddin S, Griffith AJ, Friedman TB, Smith RJH, Wilcox ER. (2002)
Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.
Am J Hum Genet 71:632-36
Astuto LM, Bork JM, Weston MD, Askew JW, Fields RR, Orten DJ, Ohliger SJ, Riazuddin S, Morell RJ, Khan S, Riazuddin S, Kremer H, van Hauwe P, Moller CG, Cremers CWRJ, Ayuso C, Heckenlively JR, Rohrschneider K, Spandau U, Greenberg J, Ramesar R, Reardon W, Bitoun P, Millan J, Legge R, Friedman TB, Kimberling WJ. (2002)
CDH23 mutation and phenotype heterogeneity: A profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.
Am J Hum Genet 71:262-75