Mirna Mustapha

Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene

Françoise Denoyelle, Dominique Weil, Marion A. Maw et al. · Human Molecular Genetics · 1997 · 635 citations · Full text

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

Shin’ichiro Yasunaga, M’hamed Grati, Martine Cohen‐Salmon et al. · Nature Genetics · 1999 · 575 citations

Mendelian Disorder, Genetic Disorder, Genetics +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

An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21

Mirna Mustapha · Human Molecular Genetics · 1999 · 194 citations

Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22

Ingrid Zwaenepoel, Mirna Mustapha, Michel Leibovici et al. · Proceedings of the National Academy of Sciences · 2002 · 182 citations · Full text

Otorhinolaryngology, Molecular Biology, Neurotology +20