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

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

The Outcome of Congenital Cytomegalovirus Infection in Relation to Maternal Antibody Status

Karen B. Fowler, Sergio Stagno, Robert F. Pass et al. · New England Journal of Medicine · 1992 · 1.1K citations

Medicine, Infectious Diseases, Obstetrics +12

Digenic Retinitis Pigmentosa Due to Mutations at the Unlinked Peripherin/ <i>RDS</i> and <i>ROM1</i> Loci

Kazuto Kajiwara, Eliot L. Berson, Thaddeus P. Dryja · Science · 1994 · 785 citations

Life Sciences, Genetics, Molecular Genetics +14

Congenital malformations of the inner ear: A classification based on embryogenesis

Robert K. Jackler, William M. Luxfor, William F. House · The Laryngoscope · 2009 · 770 citations

Medicine, Anatomy, Developmental Biology +16

Connexin-26 mutations in sporadic and inherited sensorineural deafness

Xavier Estivill, Paolo Fortina, Saul Surrey et al. · The Lancet · 1998 · 643 citations · Full text

Medicine, Genetics, Molecular Genetics +12