Identification of the First Single GSDME Exon 8 Structural Variants Associated with Autosomal Dominant Hearing Loss

por Mansard, Luke, Vaché, Christel, Bianchi, Julie, Baudoin, Corinne, Perthus, Isabelle, Isidor, Bertrand, Blanchet, Catherine, Baux, David, Koenig, Michel, Kalatzis, Vasiliki, Roux, Anne-Françoise
Publicado 2022

When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report

por Cenni, Camille, Mansard, Luke, Blanchet, Catherine, Baux, David, Vaché, Christel, Baudoin, Corinne, Moclyn, Mélodie, Faugère, Valérie, Mondain, Michel, Jeziorski, Eric, Roux, Anne-Françoise, Willems, Marjolaine
Publicado 2021

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A

por Mansard, Luke, Baux, David, Vaché, Christel, Blanchet, Catherine, Meunier, Isabelle, Willems, Marjolaine, Faugère, Valérie, Baudoin, Corinne, Moclyn, Melody, Bianchi, Julie, Dollfus, Helene, Gilbert-Dussardier, Brigitte, Dupin-Deguine, Delphine, Bonneau, Dominique, Drumare, Isabelle, Odent, Sylvie, Zanlonghi, Xavier, Claustres, Mireille, Koenig, Michel, Kalatzis, Vasiliki, Roux, Anne-Françoise
Publicado 2021

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

por Nuzhat, Nafisa, Van Schil, Kristof, Liakopoulos, Sandra, Bauwens, Miriam, Rey, Alfredo Dueñas, Käseberg, Stephan, Jäger, Melanie, Willer, Jason R., Winter, Jennifer, Truong, Hanh M., Gruartmoner, Nuria, Van Heetvelde, Mattias, Wolf, Joachim, Merget, Robert, Grasshoff-Derr, Sabine, Van Dorpe, Jo, Hoorens, Anne, Stöhr, Heidi, Mansard, Luke, Roux, Anne-Françoise, Langmann, Thomas, Dannhausen, Katharina, Rosenkranz, David, Wissing, Karl M., Van Lint, Michel, Rossmann, Heidi, Häuser, Friederike, Nürnberg, Peter, Thiele, Holger, Zechner, Ulrich, Pearring, Jillian N., De Baere, Elfride, Bolz, Hanno J.
Publicado 2023