Luce Smagghe

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

Crystel Bonnet, Zied Riahi, Sandra Chantot‐Bastaraud et al. · European Journal of Human Genetics · 2016 · 106 citations · Full text

Cytogenetic and molecular abnormalities in <scp>W</scp>aldenström's macroglobulinemia patients: Correlations and prognostic impact

Daphné Krzisch, Nayara Ribeiro Guedes, Clémentine Boccon‐Gibod et al. · American Journal of Hematology · 2021 · 46 citations · Full text

Immunodeficiencies, Genetics, Immunology +18

Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment

Crystel Bonnet, Malek Louha, Natalie Loundon et al. · Gene · 2013 · 26 citations

Biallelic Nonsense Mutations, Otogelin-like Gene, Pediatric Otolaryngology +12