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International Journal of Pediatric Otorhinolaryngology|October 13, 2016
International Pediatric Otolaryngology Group (IPOG) consensus recommendations: Hearing loss in the pediatric patientBryan J Liming, John Carter, Alan Cheng, et al.
Human Genetics|February 7, 2025
Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous KITLG variantsMargaux Serey-Gaut, Ralyath Balogoun, Laurence Jonard, et al.
Clinical Genetics|October 10, 2018
High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5Justine Lerat, Crystel Bonnet, François Cartault, et al.
American Journal of Human Genetics|December 5, 2017
Mutations in TUBB4B Cause a Distinctive Sensorineural DiseaseRomain Luscan, Sabrina Mechaussier, Antoine Paul, et al.
International Journal of Pediatric Otorhinolaryngology|July 13, 2010
Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueductLaurence Jonard, Magali Niasme-Grare, Crystel Bonnet, et al.
European Journal of Medical Genetics|August 12, 2020
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature reviewOriane Mercati, Marie-Thérèse Abi Warde, Geneviève Lina-Granade, et al.
Molecular Therapy. Advances|June 19, 2026
Efficacy and safety of SENS-501, a dual-AAV otoferlin gene therapy, for DFNB9 congenital deafnessRafik Boudra, Guillaume Olivier, Christophe Tran Van Ba, et al.
Archives of Otolaryngology--Head & Neck Surgery|June 22, 2005
GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patientsSandrine Marlin, Delphine Feldmann, Hélène Blons, et al.
Audiology Research|May 23, 2023
Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing ImpairmentLaurence Jonard, Davide Brotto, Miguel A Moreno-Pelayo, et al.
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