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authFullName_s : Asma Chaoui
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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⟩
Journal articles inserm-00836181v1
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Combined Computational-Experimental Analyses of CFTR Exon Strength Uncover Predictability of Exon-Skipping Level.

Abdel Aissat , Alix de Becdelièvre , Lisa Golmard , Christian Vasseur , Catherine Costa , et al.
Human Mutation, 2013, 34 (6), pp.873-81. ⟨10.1002/humu.22300⟩
Journal articles istex inserm-00797975v1
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Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.

Asma Chaoui , Yuli Watanabe , Renaud Touraine , Viviane Baral , Michel Goossens , et al.
Human Mutation, 2011, 32 (12), pp.1436-49. ⟨10.1002/humu.21583⟩
Journal articles istex inserm-00655828v1
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Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10.

Veronique Pingault , Laurence Pierre-Louis , Asma Chaoui , Alain Verloes , Elisabeth Sarrazin , et al.
American Journal of Medical Genetics Part A, 2014, 164 (9), pp.2344-50. ⟨10.1002/ajmg.a.36612⟩
Journal articles inserm-01066629v1