Thomas B. Friedman

Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23

Julie M. Bork, Linda Peters, Saima Riazuddin et al. · The American Journal of Human Genetics · 2001 · 551 citations · Full text

Developmental Biology, Allelic Mutations, Mendelian Disorder +7

Mutations in the Connexin 26 Gene (<i>GJB2</i>) among Ashkenazi Jews with Nonsyndromic Recessive Deafness

Robert J. Morell, Hung Jeff Kim, Linda J. Hood et al. · New England Journal of Medicine · 1998 · 544 citations

Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function

Kiyoto Kurima, Linda Peters, Yandan Yang et al. · Nature Genetics · 2002 · 471 citations · Full text

Novel Gene, Genetic Disorder, Genetics +15

Association of Unconventional Myosin <i>MYO15</i> Mutations with Human Nonsyndromic Deafness <i>DFNB3</i>

Aihui Wang, Yong Liang, Robert A. Fridell et al. · Science · 1998 · 439 citations

Mutations in the Gene Encoding Tight Junction Claudin-14 Cause Autosomal Recessive Deafness DFNB29

Edward R. Wilcox, Quianna Burton, Sadaf Naz et al. · Cell · 2001 · 437 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +7