Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells

por Gérard, Xavier, Perrault, Isabelle, Munnich, Arnold, Kaplan, Josseline, Rozet, Jean-Michel
Publicado 2015

MCAT Mutations Cause Nuclear LHON-like Optic Neuropathy

por Gerber, Sylvie, Orssaud, Christophe, Kaplan, Josseline, Johansson, Catrine, Rozet, Jean-Michel
Publicado 2021

Congenital Microcoria: Clinical Features and Molecular Genetics

por Angée, Clémentine, Nedelec, Brigitte, Erjavec, Elisa, Rozet, Jean-Michel, Fares Taie, Lucas
Publicado 2021

Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm

por Lenaers, Guy, Beaulieu, Cléis, Charif, Majida, Gerber, Sylvie, Kaplan, Josseline, Rozet, Jean-Michel
Publicado 2023

Multimodal analysis of the progression of Best vitelliform macular dystrophy

por Querques, Giuseppe, Zerbib, Jennyfer, Georges, Anouk, Massamba, Nathalie, Forte, Raimondo, Querques, Lea, Rozet, Jean-Michel, Kaplan, Josseline, Souied, Eric H.
Publicado 2014

AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent CEP290 c.4723A > T Mutation. Fact or Fiction?

por Barny, Iris, Perrault, Isabelle, Michel, Christel, Goudin, Nicolas, Defoort-Dhellemmes, Sabine, Ghazi, Imad, Kaplan, Josseline, Rozet, Jean-Michel, Gerard, Xavier
Publicado 2019

Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene

por Querques, Giuseppe, Zerbib, Jennyfer, Santacroce, Rossana, Margaglione, Maurizio, Delphin, Nathalie, Rozet, Jean-Michel, Kaplan, Josseline, Martinelli, Domenico, Delle Noci, Nicola, Soubrane, Gisèle, Souied, Eric H.
Publicado 2009

R102G polymorphism of the C3 gene associated with exudative age-related macular degeneration in a French population

por Zerbib, Jennyfer, Richard, Florence, Puche, Nathalie, Leveziel, Nicolas, Cohen, Salomon Y., Korobelnik, Jean-François, Sahel, José, Munnich, Arnold, Kaplan, Josseline, Rozet, Jean-Michel, Souied, Eric H.
Publicado 2010

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation

por Gerard, Xavier, Perrault, Isabelle, Hanein, Sylvain, Silva, Eduardo, Bigot, Karine, Defoort-Delhemmes, Sabine, Rio, Marlèene, Munnich, Arnold, Scherman, Daniel, Kaplan, Josseline, Kichler, Antoine, Rozet, Jean-Michel
Publicado 2012

PCDH12 loss results in premature neuronal differentiation and impeded migration in a cortical organoid model

por Rakotomamonjy, Jennifer, Rylaarsdam, Lauren, Fares-Taie, Lucas, McDermott, Sean, Davies, Devin, Yang, George, Fagbemi, Fikayo, Epstein, Maya, Fairbanks-Santana, Martín, Rozet, Jean-Michel, Guemez-Gamboa, Alicia
Publicado 2023

Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy

por Gerber, Sylvie, Lessard, Lola, Rouzier, Cécile, Ait‐el‐Mkadem Saadi, Samira, Ameli, Roxana, Thobois, Stéphane, Abouaf, Lucie, Bouhour, Françoise, Kaplan, Josseline, Putoux, Audrey, Pegat, Antoine, Rozet, Jean‐Michel
Publicado 2023

Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort

por Perrault, Isabelle, Hanein, Sylvain, Gérard, Xavier, Mounguengue, Nelson, Bouyakoub, Ryme, Zarhrate, Mohammed, Fourrage, Cécile, Jabot-Hanin, Fabienne, Bocquet, Béatrice, Meunier, Isabelle, Zanlonghi, Xavier, Kaplan, Josseline, Rozet, Jean-Michel
Publicado 2021

rs5888 Variant of SCARB1 Gene Is a Possible Susceptibility Factor for Age-Related Macular Degeneration

por Zerbib, Jennyfer, Seddon, Johanna M., Richard, Florence, Reynolds, Robyn, Leveziel, Nicolas, Benlian, Pascale, Borel, Patrick, Feingold, Josué, Munnich, Arnold, Soubrane, Gisèle, Kaplan, Josseline, Rozet, Jean-Michel, Souied, Eric H.
Publicado 2009

Genetic association study of mitochondrial polymorphisms in neovascular age-related macular degeneration

por Tilleul, Julien, Richard, Florence, Puche, Nathalie, Zerbib, Jennyfer, Leveziel, Nicolas, Sahel, Jose Alain, Cohen, Salomon Yves, Korobelnik, Jean-Francois, Feingold, Josue, Munnich, Arnold, Kaplan, Josseline, Rozet, Jean-Michel, Souied, Eric H.
Publicado 2013

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement

por Mechaussier, Sabrina, Almoallem, Basamat, Zeitz, Christina, Van Schil, Kristof, Jeddawi, Laila, Van Dorpe, Jo, Dueñas Rey, Alfredo, Condroyer, Christel, Pelle, Olivier, Polak, Michel, Boddaert, Nathalie, Bahi-Buisson, Nadia, Cavallin, Mara, Bacquet, Jean-Louis, Mouallem-Bézière, Alexandra, Zambrowski, Olivia, Sahel, José Alain, Audo, Isabelle, Kaplan, Josseline, Rozet, Jean-Michel, De Baere, Elfride, Perrault, Isabelle
Publicado 2020

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement

por Mechaussier, Sabrina, Almoallem, Basamat, Zeitz, Christina, Van Schil, Kristof, Jeddawi, Laila, Van Dorpe, Jo, Rey, Alfredo Dueñas, Condroyer, Christel, Pelle, Olivier, Polak, Michel, Boddaert, Nathalie, Bahi-Buisson, Nadia, Cavallin, Mara, Bacquet, Jean-Louis, Mouallem-Bézière, Alexandra, Zambrowski, Olivia, Sahel, José Alain, Audo, Isabelle, Kaplan, Josseline, Rozet, Jean-Michel, De Baere, Elfride, Perrault, Isabelle
Publicado 2020

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype

por Perrault, Isabelle, Halbritter, Jan, Porath, Jonathan D, Gérard, Xavier, Braun, Daniela A, Gee, Heon Yung, Fathy, Hanan M, Saunier, Sophie, Cormier-Daire, Valérie, Thomas, Sophie, Attié-Bitach, Tania, Boddaert, Nathalie, Taschner, Michael, Schueler, Markus, Lorentzen, Esben, Lifton, Richard P, Lawson, Jennifer A, Garfa-Traore, Meriem, Otto, Edgar A, Bastin, Philippe, Caillaud, Catherine, Kaplan, Josseline, Rozet, Jean-Michel, Hildebrandt, Friedhelm
Publicado 2015

Expanding the KIF4A ‐associated phenotype

por Kalantari, Silvia, Carlston, Colleen, Alsaleh, Norah, Abdel‐Salam, Ghada M. H., Alkuraya, Fowzan, Kato, Mitsuhiro, Matsumoto, Naomichi, Miyatake, Satoko, Yamamoto, Tatsuya, Fares‐Taie, Lucas, Rozet, Jean‐Michel, Chassaing, Nicolas, Vincent‐Delorme, Catherine, Kang‐Bellin, Anjeung, McWalter, Kirsty, Bupp, Caleb, Palen, Emily, Wagner, Monisa D., Niceta, Marcello, Cesario, Claudia, Milone, Roberta, Kaplan, Julie, Wadman, Erin, Dobyns, William B., Filges, Isabel
Publicado 2021

Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype

por Perrault, Isabelle, Estrada-Cuzcano, Alejandro, Lopez, Irma, Kohl, Susanne, Li, Shiqiang, Testa, Francesco, Zekveld-Vroon, Renate, Wang, Xia, Pomares, Esther, Andorf, Jean, Aboussair, Nisrine, Banfi, Sandro, Delphin, Nathalie, den Hollander, Anneke I., Edelson, Catherine, Florijn, Ralph, Jean-Pierre, Marc, Leowski, Corinne, Megarbane, Andre, Villanueva, Cristina, Flores, Blanca, Munnich, Arnold, Ren, Huanan, Zobor, Ditta, Bergen, Arthur, Chen, Rui, Cremers, Frans P. M., Gonzalez-Duarte, Roser, Koenekoop, Robert K., Simonelli, Francesca, Stone, Edwin, Wissinger, Bernd, Zhang, Qingjiong, Kaplan, Josseline, Rozet, Jean-Michel
Publicado 2013

Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

por Stenton, Sarah L., Sheremet, Natalia L., Catarino, Claudia B., Andreeva, Natalia A., Assouline, Zahra, Barboni, Piero, Barel, Ortal, Berutti, Riccardo, Bychkov, Igor, Caporali, Leonardo, Capristo, Mariantonietta, Carbonelli, Michele, Cascavilla, Maria L., Charbel Issa, Peter, Freisinger, Peter, Gerber, Sylvie, Ghezzi, Daniele, Graf, Elisabeth, Heidler, Juliana, Hempel, Maja, Heon, Elise, Itkis, Yulya S., Javasky, Elisheva, Kaplan, Josseline, Kopajtich, Robert, Kornblum, Cornelia, Kovacs-Nagy, Reka, Krylova, Tatiana D., Kunz, Wolfram S., La Morgia, Chiara, Lamperti, Costanza, Ludwig, Christina, Malacarne, Pedro F., Maresca, Alessandra, Mayr, Johannes A., Meisterknecht, Jana, Nevinitsyna, Tatiana A., Palombo, Flavia, Pode-Shakked, Ben, Shmelkova, Maria S., Strom, Tim M., Tagliavini, Francesca, Tzadok, Michal, van der Ven, Amelie T., Vignal-Clermont, Catherine, Wagner, Matias, Zakharova, Ekaterina Y., Zhorzholadze, Nino V., Rozet, Jean-Michel, Carelli, Valerio, Tsygankova, Polina G., Klopstock, Thomas, Wittig, Ilka, Prokisch, Holger
Publicado 2021