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

Bonnet, C; Riahi, Z; Chantot-Bastaraud, S; Smagghe, L; Letexier, M; Marcaillou, C; Lefevre, GM; ... Petit, C; + view all Bonnet, C; Riahi, Z; Chantot-Bastaraud, S; Smagghe, L; Letexier, M; Marcaillou, C; Lefevre, GM; Hardelin, J-P; El-Amraoui, A; Singh-Estivalet, A; Mohand-Said, S; Kohl, S; Kurtenbach, A; Sliesoraityte, I; Zobor, D; Gherbi, S; Testa, F; Simonelli, F; Banfi, S; Fakin, A; Glavac, D; Jarc-Vidmar, M; Zupan, A; Battelino, S; Martorell Sampol, L; Antonia Claveria, M; Catala Mora, J; Dad, S; Moller, LB; Rodriguez Jorge, J; Hawlina, M; Auricchio, A; Sahel, J-A; Marlin, S; Zrenner, E; Audo, I; Petit, C; - view fewer (2016) An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. European Journal of Human Genetics , 24 (12) pp. 1730-1738. 10.1038/ejhg.2016.99 . Green open access

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