Bonnet, Crystel

Top Publications

Top Publications Authored or Co-Authored by "Bonnet, Crystel"

• EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness

  Orphanet Journal of Rare Diseases, Volume 9, No. 1, Article 55, Year 2014, Citations 57
• The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells

  EMBO Molecular Medicine, Volume 6, No. 7, Year 2014, Citations 53
• FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases

  American Journal of Human Genetics, Volume 101, No. 4, Year 2017, Citations 51
• Diversity of the causal genes in hearing impaired algerian individuals identified by whole exome sequencing

  Molecular Genetics and Genomic Medicine, Volume 3, No. 3, Year 2015, Citations 42
• Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness

  American Journal of Human Genetics, Volume 98, No. 6, Year 2016, Citations 35