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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

A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family

Ghita Amalou , Crystel Bonnet , Zied Riahi , Aymane Bouzidi , Soukaina Elrharchi , et al.
International Journal of Pediatric Otorhinolaryngology, 2021, 140, pp.110481. ⟨10.1016/j.ijporl.2020.110481⟩
Article dans une revue pasteur-03215242v1
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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.1384094. ⟨10.3389/fgene.2024.1384094⟩
Article dans une revue pasteur-04691608v1

Novel pathogenic WHRN variant causing hearing loss in a moroccan family

Imane Aitraise , Ghita Amalou , Salaheddine Redouane , Hicham Charoute , Khalid Snoussi , et al.
Molecular Biology Reports, 2023, ⟨10.1007/s11033-023-08901-8⟩
Article dans une revue hal-04281535v1

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients

Séverine Marcos , Julie Sarfati , Chrystel Leroy , Corinne Fouveaut , Philippe Parent , et al.
The Journal of clinical endocrinology and metabolism, 2014, 99 (10), pp.E2138 - 43. ⟨10.1210/jc.2014-2110⟩
Article dans une revue hal-03404122v1
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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