Stéphane Blanchard

Defective myosin VIIA gene responsible for Usher syndrome type IB

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

Mendelian Disorder, Genetic Disorder, Genetics +3

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 · 465 citations

Signal Transduction, Developmental Biology, Type 1C +7

The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

Dominique Weil, Polonca Küssel, Stéphane Blanchard et al. · Nature Genetics · 1997 · 423 citations

Allelic Defects, Mendelian Disorder, Myosin-viia Gene +8

Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31

Philomena Mburu, Mirna Mustapha, Anabel Varela et al. · Nature Genetics · 2003 · 338 citations

Knockout Mouse, Pdz Domain Molecule, Cause Deafness +9

A non–syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q

Parry Guilford, Saïda Ben Arab, Stéphane Blanchard et al. · Nature Genetics · 1994 · 276 citations

Molecular Neuroscience, Genetic Disorder, Neuroanatomy +9