Michel Leibovici

A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome

Nathalie Neyroud, Frédérique Tesson, Isabelle Denjoy et al. · Nature Genetics · 1997 · 881 citations

Novel Mutation, Channelopathies, Cardiomyopathy +10

A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family

Sonia Abdelhak, Vasiliki Kalatzis, Roland Heilig et al. · Nature Genetics · 1997 · 678 citations

Biology, Developmental Biology, Novel Gene Family +9

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

Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy

Sedigheh Delmaghani, Francisco Castillo, Vincent Michel et al. · Nature Genetics · 2006 · 320 citations

Auditory Processing, Molecular Neuroscience, Genetics +10

Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes

Sedigheh Delmaghani, Jean Defourny, Asadollah Aghaie et al. · Cell · 2015 · 209 citations · Full text

Engineering, Allergy, Sound Exposure +8