Guiding Lights in Genome Editing for Inherited Retinal Disorders: Implications for Gene and Cell Therapy von Sanjurjo-Soriano, Carla, Kalatzis, Vasiliki

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Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa von Diakatou, Michalitsa, Manes, Gaël, Bocquet, Beatrice, Meunier, Isabelle, Kalatzis, Vasiliki

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Allele-Specific Knockout by CRISPR/Cas to Treat Autosomal Dominant Retinitis Pigmentosa Caused by the G56R Mutation in NR2E3 von Diakatou, Michalitsa, Dubois, Gregor, Erkilic, Nejla, Sanjurjo-Soriano, Carla, Meunier, Isabelle, Kalatzis, Vasiliki

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Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics von Sarkar, Hajrah, Mitsios, Andreas, Smart, Matthew, Skinner, Jane, Welch, Ailsa A, Kalatzis, Vasiliki, Coffey, Peter J, Dubis, Adam M, Webster, Andrew R, Moosajee, Mariya

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SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation von de Sainte Agathe, Jean-Madeleine, Filser, Mathilde, Isidor, Bertrand, Besnard, Thomas, Gueguen, Paul, Perrin, Aurélien, Van Goethem, Charles, Verebi, Camille, Masingue, Marion, Rendu, John, Cossée, Mireille, Bergougnoux, Anne, Frobert, Laurent, Buratti, Julien, Lejeune, Élodie, Le Guern, Éric, Pasquier, Florence, Clot, Fabienne, Kalatzis, Vasiliki, Roux, Anne-Françoise, Cogné, Benjamin, Baux, David

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Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles von Sanjurjo-Soriano, Carla, Erkilic, Nejla, Baux, David, Mamaeva, Daria, Hamel, Christian P., Meunier, Isabelle, Roux, Anne-Françoise, Kalatzis, Vasiliki

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Preclinical pharmacology of a lipophenol in a mouse model of light-induced retinopathy von Taveau, Nicolas, Cubizolle, Aurélie, Guillou, Laurent, Pinquier, Nicolas, Moine, Espérance, Cia, David, Kalatzis, Vasiliki, Vercauteren, Joseph, Durand, Thierry, Crauste, Céline, Brabet, Philippe

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Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss von Vaché, Christel, Baux, David, Bianchi, Julie, Baudoin, Corinne, Faugère, Valérie, Francannet, Christine, Koenig, Michel, Kalatzis, Vasiliki, Roux, Anne-Françoise

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Retinoic acid delays initial photoreceptor differentiation and results in a highly structured mature retinal organoid von Sanjurjo-Soriano, Carla, Erkilic, Nejla, Damodar, Krishna, Boukhaddaoui, Hassan, Diakatou, Michalitsa, Garita-Hernandez, Marcela, Mamaeva, Daria, Dubois, Gregor, Jazouli, Zhour, Jimenez-Medina, Carla, Goureau, Olivier, Meunier, Isabelle, Kalatzis, Vasiliki

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Generation of a human iPSC line, INMi005-A, from a patient with non-syndromic USH2A-associated retinitis pigmentosa von Sanjurjo-Soriano, Carla, Erkilic, Nejla, Vache, Christel, Dubois, Gregor, Roux, Anne-Françoise, Meunier, Isabelle, Kalatzis, Vasiliki

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Study of Usutu virus neuropathogenicity in mice and human cellular models von Clé, Marion, Barthelemy, Jonathan, Desmetz, Caroline, Foulongne, Vincent, Lapeyre, Lina, Bolloré, Karine, Tuaillon, Edouard, Erkilic, Nejla, Kalatzis, Vasiliki, Lecollinet, Sylvie, Beck, Cécile, Pirot, Nelly, Glasson, Yaël, Gosselet, Fabien, Alvarez Martinez, Maria Teresa, Van de Perre, Philippe, Salinas, Sara, Simonin, Yannick

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CRB1 -Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms von Mairot, Kévin, Smirnov, Vasily, Bocquet, Béatrice, Labesse, Gilles, Arndt, Carl, Defoort-Dhellemmes, Sabine, Zanlonghi, Xavier, Hamroun, Dalil, Denis, Danièle, Picot, Marie-Christine, David, Thierry, Grunewald, Olivier, Pégart, Mako, Huguet, Hélèna, Roux, Anne-Françoise, Kalatzis, Vasiliki, Dhaenens, Claire-Marie, Meunier, Isabelle

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

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A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice von Sanchez-Alcudia, Rocio, Garcia-Hoyos, Maria, Lopez-Martinez, Miguel Angel, Sanchez-Bolivar, Noelia, Zurita, Olga, Gimenez, Ascension, Villaverde, Cristina, Rodrigues-Jacy da Silva, Luciana, Corton, Marta, Perez-Carro, Raquel, Torriano, Simona, Kalatzis, Vasiliki, Rivolta, Carlo, Avila-Fernandez, Almudena, Lorda, Isabel, Trujillo-Tiebas, Maria J, Garcia-Sandoval, Blanca, Lopez-Molina, Maria Isabel, Blanco-Kelly, Fiona, Riveiro-Alvarez, Rosa, Ayuso, Carmen

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USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids von Sanjurjo-Soriano, Carla, Jimenez-Medina, Carla, Erkilic, Nejla, Cappellino, Luisina, Lefevre, Arnaud, Nagel-Wolfrum, Kerstin, Wolfrum, Uwe, Van Wijk, Erwin, Roux, Anne-Françoise, Meunier, Isabelle, Kalatzis, Vasiliki

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Current and future gene‐based therapies for Usher syndromes von Kalatzis, Vasiliki

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Clinical Evaluation and Cone Alterations in Choroideremia von Nabholz, Nicolas, MD, Lorenzini, Marie-Céline, MSc, Bocquet, Béatrice, PhD, Lacroux, Annie, MSc, Faugère, Valérie, MSc, Roux, Anne-Françoise, PhD, Kalatzis, Vasiliki, PhD, Meunier, Isabelle, MD, PhD, Hamel, Christian P., MD, PhD

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Generation of a human iPSC line, INMi004-A, with a point mutation in CRX associated with autosomal dominant Leber congenital amaurosis von Erkilic, Nejla, Sanjurjo-Soriano, Carla, Manes, Gaël, Dubois, Gregor, Hamel, Christian P., Meunier, Isabelle, Kalatzis, Vasiliki

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Generation of a human iPSC line, INMi003-A, with a missense mutation in CRX associated with autosomal dominant cone-rod dystrophy von Erkilic, Nejla, Sanjurjo-Soriano, Carla, Diakatou, Michalitsa, Manes, Gaël, Dubois, Gregor, Hamel, Christian P., Meunier, Isabelle, Kalatzis, Vasiliki

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Generation of an iPSC line, INMi001-A, carrying the two most common USH2A mutations from a compound heterozygote with non-syndromic retinitis pigmentosa von Sanjurjo-Soriano, Carla, Erkilic, Nejla, Manes, Gaël, Dubois, Gregor, Hamel, Christian P., Meunier, Isabelle, Kalatzis, Vasiliki

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