Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

David P. Kelsell, John Dunlop, Howard P. Stevens et al. · Nature · 1997 · 1.5K citations

Life Sciences, Genetics, Molecular Genetics +13

A Deletion Involving the Connexin 30 Gene in Nonsyndromic Hearing Impairment

Ignacio del Castillo, Manuela Villamar, Miguel A. Moreno‐Pelayo et al. · New England Journal of Medicine · 2002 · 585 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Expression of the gap-junction connexins 26 and 30 in the rat cochlea

J. Lautermann, Wouter-Jan Frederik ten Cate, Petra Altenhoff et al. · Cell and Tissue Research · 1998 · 280 citations

Life Sciences, Neurobiology, Neuroscience +12

Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma

Gabriela Richard, Thomas W. White, Lisa E. Smith et al. · Human Genetics · 1998 · 278 citations

Medicine, Genetics, Molecular Genetics +14

A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews

Michal Sagi, Ziva Ben‐Neriah, Tieling Wang et al. · Human Mutation · 2001 · 220 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17