Andrew J. Griffith

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

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

Andrea M. Oza, Marina T. DiStefano, Sarah E. Hemphill et al. · Human Mutation · 2018 · 493 citations · Full text

Genetics, Genetic Epidemiology, Pathology +22

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

Mechanotransduction in mouse inner ear hair cells requires transmembrane channel–like genes

Yoshiyuki Kawashima, Gwenaëlle S. G. Géléoc, Kiyoto Kurima et al. · Journal of Clinical Investigation · 2011 · 451 citations · Full text

TMC1 and TMC2 Are Components of the Mechanotransduction Channel in Hair Cells of the Mammalian Inner Ear

Bifeng Pan, Gwenaëlle S. G. Géléoc, Yukako Asai et al. · Neuron · 2013 · 438 citations · Full text

Mechanobiology, Hair Cells, Mammalian Inner Ear +10