Centre of Excellence in Molecular Biology

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 · 551 citations · Full text

Developmental Biology, Allelic Mutations, Mendelian Disorder +7

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 · 471 citations · Full text

Novel Gene, Genetic Disorder, Genetics +15

Mutations in the Gene Encoding Tight Junction Claudin-14 Cause Autosomal Recessive Deafness DFNB29

Edward R. Wilcox, Quianna Burton, Sadaf Naz et al. · Cell · 2001 · 437 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +7

Mutations of the Protocadherin Gene PCDH15 Cause Usher Syndrome Type 1F

Zubair M. Ahmed, Saima Riazuddin, Steven L. Bernstein et al. · The American Journal of Human Genetics · 2001 · 412 citations · Full text

Genetic Disorder, Genetics, Pathogenesis +4

Null Mutations in LTBP2 Cause Primary Congenital Glaucoma

Manir Ali, Martin McKibbin, Adam Booth et al. · The American Journal of Human Genetics · 2009 · 322 citations · Full text

Mendelian Disorder, Ophthalmology, Null Mutations +4