Congenital Microcoria: Clinical Features and Molecular Genetics

per Angée, Clémentine, Nedelec, Brigitte, Erjavec, Elisa, Rozet, Jean-Michel, Fares Taie, Lucas
Publicat a Genes (Basel) (2021)

TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy

per Hanein, Sylvain, Perrault, Isabelle, Roche, Olivier, Gerber, Sylvie, Khadom, Noman, Rio, Marlene, Boddaert, Nathalie, Jean-Pierre, Marc, Brahimi, Nora, Serre, Valérie, Chretien, Dominique, Delphin, Nathalie, Fares-Taie, Lucas, Lachheb, Sahran, Rotig, Agnès, Meire, Françoise, Munnich, Arnold, Dufier, Jean-Louis, Kaplan, Josseline, Rozet, Jean-Michel
Publicat 2009

ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia

per Fares-Taie, Lucas, Gerber, Sylvie, Chassaing, Nicolas, Clayton-Smith, Jill, Hanein, Sylvain, Silva, Eduardo, Serey, Margaux, Serre, Valérie, Gérard, Xavier, Baumann, Clarisse, Plessis, Ghislaine, Demeer, Bénédicte, Brétillon, Lionel, Bole, Christine, Nitschke, Patrick, Munnich, Arnold, Lyonnet, Stanislas, Calvas, Patrick, Kaplan, Josseline, Ragge, Nicola, Rozet, Jean-Michel
Publicat 2013

Submicroscopic Deletions at 13q32.1 Cause Congenital Microcoria

per Fares-Taie, Lucas, Gerber, Sylvie, Tawara, Akihiko, Ramirez-Miranda, Arturo, Douet, Jean-Yves, Verdin, Hannah, Guilloux, Antoine, Zenteno, Juan C., Kondo, Hiroyuki, Moisset, Hugo, Passet, Bruno, Yamamoto, Ken, Iwai, Masaru, Tanaka, Toshihiro, Nakamura, Yusuke, Kimura, Wataru, Bole-Feysot, Christine, Vilotte, Marthe, Odent, Sylvie, Vilotte, Jean-Luc, Munnich, Arnold, Regnier, Alain, Chassaing, Nicolas, De Baere, Elfride, Raymond-Letron, Isabelle, Kaplan, Josseline, Calvas, Patrick, Roche, Olivier, Rozet, Jean-Michel
Publicat a Am J Hum Genet (2015)

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

per Gerber, Sylvie, Alzayady, Kamil J., Burglen, Lydie, Brémond-Gignac, Dominique, Marchesin, Valentina, Roche, Olivier, Rio, Marlène, Funalot, Benoit, Calmon, Raphaël, Durr, Alexandra, Gil-da-Silva-Lopes, Vera Lucia, Ribeiro Bittar, Maria Fernanda, Orssaud, Christophe, Héron, Bénédicte, Ayoub, Edward, Berquin, Patrick, Bahi-Buisson, Nadia, Bole, Christine, Masson, Cécile, Munnich, Arnold, Simons, Matias, Delous, Marion, Dollfus, Helene, Boddaert, Nathalie, Lyonnet, Stanislas, Kaplan, Josseline, Calvas, Patrick, Yule, David I., Rozet, Jean-Michel, Fares Taie, Lucas
Publicat a Am J Hum Genet (2016)

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

per Angebault, Claire, Guichet, Pierre-Olivier, Talmat-Amar, Yasmina, Charif, Majida, Gerber, Sylvie, Fares-Taie, Lucas, Gueguen, Naig, Halloy, François, Moore, David, Amati-Bonneau, Patrizia, Manes, Gael, Hebrard, Maxime, Bocquet, Béatrice, Quiles, Mélanie, Piro-Mégy, Camille, Teigell, Marisa, Delettre, Cécile, Rossel, Mireille, Meunier, Isabelle, Preising, Markus, Lorenz, Birgit, Carelli, Valerio, Chinnery, Patrick F., Yu-Wai-Man, Patrick, Kaplan, Josseline, Roubertie, Agathe, Barakat, Abdelhamid, Bonneau, Dominique, Reynier, Pascal, Rozet, Jean-Michel, Bomont, Pascale, Hamel, Christian P., Lenaers, Guy
Publicat a Am J Hum Genet (2015)

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

per Angebault, Claire, Guichet, Pierre-Olivier, Talmat-Amar, Yasmina, Charif, Majida, Gerber, Sylvie, Fares-Taie, Lucas, Gueguen, Naig, Halloy, François, Moore, David, Amati-Bonneau, Patrizia, Manes, Gael, Hebrard, Maxime, Bocquet, Béatrice, Quiles, Mélanie, Piro-Mégy, Camille, Teigell, Marisa, Delettre, Cécile, Rossel, Mireille, Meunier, Isabelle, Preising, Markus, Lorenz, Birgit, Carelli, Valerio, Chinnery, Patrick F., Yu-Wai-Man, Patrick, Kaplan, Josseline, Roubertie, Agathe, Barakat, Abdelhamid, Bonneau, Dominique, Reynier, Pascal, Rozet, Jean-Michel, Bomont, Pascale, Hamel, Christian P., Lenaers, Guy
Publicat a Am J Hum Genet (2015)

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

per Dodd, Daniel O, Mechaussier, Sabrina, Yeyati, Patricia L, McPhie, Fraser, Anderson, Jacob R, Khoo, Chen Jing, Shoemark, Amelia, Gupta, Deepesh K, Attard, Thomas, Zariwala, Maimoona A, Legendre, Marie, Bracht, Diana, Wallmeier, Julia, Gui, Miao, Fassad, Mahmoud R, Parry, David A, Tennant, Peter A, Meynert, Alison, Wheway, Gabrielle, Fares-Taie, Lucas, Black, Holly A, Mitri-Frangieh, Rana, Faucon, Catherine, Kaplan, Josseline, Patel, Mitali, McKie, Lisa, Megaw, Roly, Gatsogiannis, Christos, Mohamed, Mai A, Aitken, Stuart, Gautier, Philippe, Reinholt, Finn R, Hirst, Robert A, O’Callaghan, Chris, Heimdal, Ketil, Bottier, Mathieu, Escudier, Estelle, Crowley, Suzanne, Descartes, Maria, Jabs, Ethylin W, Kenia, Priti, Amiel, Jeanne, Bacci, Giacomo Maria, Calogero, Claudia, Palazzo, Viviana, Tiberi, Lucia, Blümlein, Ulrike, Rogers, Andrew, Wambach, Jennifer A, Wegner, Daniel J, Fulton, Anne B, Kenna, Margaret, Rosenfeld, Margaret, Holm, Ingrid A, Quigley, Alan, Hall, Emma A, Murphy, Laura C, Cassidy, Diane M, von Kriegsheim, Alex, Papon, Jean-François, Pasquier, Laurent, Murris, Marlène S, Chalmers, James D, Hogg, Claire, Macleod, Kenneth A, Urquhart, Don S, Unger, Stefan, Aitman, Timothy J, Amselem, Serge, Leigh, Margaret W, Knowles, Michael R., Omran, Heymut, Mitchison, Hannah M, Brown, Alan, Marsh, Joseph A, Welburn, Julie P I, Ti, Shih-Chieh, Horani, Amjad, Rozet, Jean-Michel, Perrault, Isabelle, Mill, Pleasantine
Publicat a Science (2024)