Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1

Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

Johan T. den Dunnen, Stylianos E. Antonarakis · Human Mutation · 2000 · 1.8K citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Defective myosin VIIA gene responsible for Usher syndrome type IB

Dominique Well, Stéphane Blanchard, Josseline Kaplan et al. · Nature · 1995 · 1.1K citations

Life Sciences, Genetics, Molecular Genetics +7

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 · 557 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Standard for clinical electroretinography (2004 update)

Michael F. Marmor, Graham E. Holder, Mathias W. Seeliger et al. · Documenta Ophthalmologica · 2004 · 505 citations

Medicine, Neurology, Bioinstrumentation +7

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

Hanno J. Bolz, Benigna von Brederlow, Alfredo Ramı́rez et al. · Nature Genetics · 2001 · 497 citations

Life Sciences, Genetics, Molecular Genetics +6