Twister mutant mice are defective for otogelin, a component specific to inner ear acellular membranes

Genomic sequencing.

George M. Church, W Gilbert · Proceedings of the National Academy of Sciences · 1984 · 8.2K citations · Full text

Life Sciences, Genetics, Molecular Biology +12

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 features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling

Françoise Denoyelle, Sandrine Marlin, Dominique Weil et al. · The Lancet · 1999 · 437 citations

Medicine, Genetics, Molecular Genetics +13

Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment

Kristien Verhoeven, Lut Van Laer, Karin Kirschhofer et al. · Nature Genetics · 1998 · 341 citations

Life Sciences, Genetics, Molecular Genetics +10

Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)

Wyman T. McGuirt, Sai Prasad, Andrew J. Griffith et al. · Nature Genetics · 1999 · 270 citations

Medicine, Genetics, Molecular Genetics +11