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Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis

Sophie Boucher , Fabienne Wong Jun Tai , Sedigheh Delmaghani , Andrea Lelli , Amrit Singh-Estivalet , et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020, 117 (49), pp.31278-31289. ⟨10.1073/pnas.2010782117⟩
Article dans une revue pasteur-03215054v1
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Corrigendum: Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health

Rahma Mkaouar , Zied Riahi , Jihene Marrakchi , Nessrine Mezzi , Lilia Romdhane , et al.
Frontiers in Genetics, 2024, 15, pp.1437233. ⟨10.3389/fgene.2024.1437233⟩
Article dans une revue pasteur-04691609v1
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Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness.

Veronique Pingault , Virginie Bodereau , Viviane Baral , Severine Marcos , Yuli Watanabe , et al.
American Journal of Human Genetics, 2013, 92 (5), pp.707-24. ⟨10.1016/j.ajhg.2013.03.024⟩
Article dans une revue inserm-00836181v1

Telemedicine in Audiology. Best practice recommendations from the French Society of Audiology (SFA) and the French Society of Otorhinolaryngology-Head and Neck Surgery (SFORL)

H. Thai-Van , D. Bakhos , D. Bouccara , N. Loundon , M. Marx , et al.
European Annals of Otorhinolaryngology, Head and Neck Diseases, 2020, ⟨10.1016/j.anorl.2020.10.007⟩
Article dans une revue hal-03234124v1