S. Gherbi

Noonan Syndrome: An Underestimated Cause of Severe to Profound Sensorineural Hearing Impairment. Which Clues to Suspect the Diagnosis?

H. Cavé, A. Ziegler, N. Loundon, 2017, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells

P. Avan, C. Petit, Vincent Michel, 2014, EMBO Molecular Medicine.

High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5

E. Génin, F. Denoyelle, J. Bonnefont, 2018, Clinical genetics.

Genetic Update on Auditory Neuropathy

P. Deltenre, F. Denoyelle, M. Louha, 2011, Audiology and Neurotology Extra.

MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review.

F. Giuliano, S. Rondeau, S. Marlin, 2020, European journal of medical genetics.

SOX10 mutations mimic isolated hearing loss

F. Denoyelle, H. Ducou le Pointe, N. Loundon, 2015, Clinical genetics.

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.

Olivier Sterkers, Fanny Mochel, Patrick Nitschke, 2017, American journal of human genetics.

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

J. Sahel, E. Zrenner, C. Petit, 2016, European Journal of Human Genetics.

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature

A. Munnich, F. Denoyelle, D. Lacombe, 2016, Human mutation.

Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS

C. Rooryck, D. Lacombe, Angèle Tingaud-Sequeira, 2020, Molecular genetics & genomic medicine.

Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment.

C. Petit, N. Michalski, J. Hardelin, 2013, Gene.

Discovery of a Large Deletion of KAL1 in 2 Deaf Brothers

F. Denoyelle, M. Louha, S. Chantot-Bastaraud, 2013, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment.

J. Hardelin, F. Denoyelle, M. Louha, 2013, Gene.