Bronya J.B. Keats

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 · 545 citations

Life Sciences, Genetics, Molecular Genetics +11

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 · 476 citations · Full text

Medicine, Genetics, Molecular Genetics +16

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C

Elisabeth Verpy, Michel Leibovici, Ingrid Zwaenepoel et al. · Nature Genetics · 2000 · 466 citations

Medicine, Genetics, Molecular Genetics +15

Clinical diagnosis of the Usher syndromes

Richard J. Smith, Charles I. Berlín, J. Fielding Hejtmancik et al. · American Journal of Medical Genetics · 1994 · 343 citations

Life Sciences, Genetics, Genodermatoses +8

Multi-site diagnosis and management of 260 patients with Auditory Neuropathy/Dys-synchrony (Auditory Neuropathy Spectrum Disorder^*)

Charles I. Berlín, Linda J. Hood, Thierry Morlet et al. · International Journal of Audiology · 2010 · 292 citations

Medicine, Audiology, Otolaryngology +17