ITPR1: The missing gene in miosis–ataxia syndrome?
Chesneau, Bertrand, Calvas, Patrick, Cassagne, Myriam, Varenne, Fanny, Rozet, Jean‐Michel, Bonneville, Fabrice, Chassaing, Nicolas, Fournié, Pierre, Fares‐Taie, Lucas, Plaisancié, Julie
Published in American journal of medical genetics. Part A (01.09.2024)
Published in American journal of medical genetics. Part A (01.09.2024)
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Journal Article
Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences
Moya, Rene, Angée, Clémentine, Hanein, Sylvain, Jabot-Hanin, Fabienne, Kaplan, Josseline, Perrault, Isabelle, Rozet, Jean-Michel, Fares Taie, Lucas
Published in International journal of molecular sciences (01.06.2024)
Published in International journal of molecular sciences (01.06.2024)
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Journal Article
Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans
Bouasker, Samir, Patel, Nisha, Greenlees, Rebecca, Wellesley, Diana, Fares Taie, Lucas, Almontashiri, Naif A, Baptista, Julia, Alghamdi, Malak Ali, Boissel, Sarah, Martinovic, Jelena, Prokudin, Ivan, Holden, Samantha, Mudhar, Hardeep-Singh, Riley, Lisa G, Nassif, Christina, Attie-Bitach, Tania, Miguet, Marguerite, Delous, Marion, Ernest, Sylvain, Plaisancié, Julie, Calvas, Patrick, Rozet, Jean-Michel, Khan, Arif O, Hamdan, Fadi F, Jamieson, Robyn V, Alkuraya, Fowzan S, Michaud, Jacques L, Chassaing, Nicolas
Published in Journal of medical genetics (01.03.2023)
Published in Journal of medical genetics (01.03.2023)
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Journal Article
Congenital Microcoria: Clinical Features and Molecular Genetics
Angée, Clémentine, Nedelec, Brigitte, Erjavec, Elisa, Rozet, Jean-Michel, Fares Taie, Lucas
Published in Genes (22.04.2021)
Published in Genes (22.04.2021)
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Journal Article
Expanding the KIF4A‐associated phenotype
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
Published in American journal of medical genetics. Part A (01.12.2021)
Published in American journal of medical genetics. Part A (01.12.2021)
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Journal Article
Structural Variant Disrupting the Expression of the Remote FOXC1 Gene in a Patient with Syndromic Complex Microphthalmia
Plaisancié, Julie, Chesneau, Bertrand, Fares-Taie, Lucas, Rozet, Jean-Michel, Pechmeja, Jacmine, Noero, Julien, Gaston, Véronique, Bailleul-Forestier, Isabelle, Calvas, Patrick, Chassaing, Nicolas
Published in International journal of molecular sciences (01.03.2024)
Published in International journal of molecular sciences (01.03.2024)
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Journal Article
TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy
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
Published in American journal of human genetics (01.04.2009)
Published in American journal of human genetics (01.04.2009)
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Journal Article
Submicroscopic Deletions at 13q32.1 Cause Congenital Microcoria
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
Published in American journal of human genetics (02.04.2015)
Published in American journal of human genetics (02.04.2015)
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Journal Article
Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype
Perrault, Isabelle, Hanein, Sylvain, Gerard, Xavier, Delphin, Nathalie, Fares-Taie, Lucas, Gerber, Sylvie, Pelletier, Valérie, Mercé, Emilie, Dollfus, Hélène, Puech, Bernard, Defoort-Dhellemmes, Sabine, Petersen, Michael D, Zafeiriou, Dimitrios, Munnich, Arnold, Kaplan, Josseline, Roche, Olivier, Rozet, Jean-Michel
Published in Human mutation (01.03.2010)
Published in Human mutation (01.03.2010)
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Journal Article
Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?
DELPHIN, Nathalie, HANEIN, Sylvain, MUNNICH, Arnold, ROCHE, Olivier, KAPLAN, Josseline, ROZET, Jean-Michel, FARES TAIE, Lucas, ZANLONGHI, Xavier, BONNEAU, Dominique, MOISAN, Jean-Paul, BOYLE, Christine, NITSCHKE, Patrick, PRUVOST, Solenn, BONNEFONT, Jean-Paul
Published in European journal of human genetics : EJHG (01.03.2012)
Published in European journal of human genetics : EJHG (01.03.2012)
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Journal Article
Structural Variant Disrupting the Expression of the Remote IFOXC1/I Gene in a Patient with Syndromic Complex Microphthalmia
Plaisancié, Julie, Chesneau, Bertrand, Fares-Taie, Lucas, Rozet, Jean-Michel, Pechmeja, Jacmine, Noero, Julien, Gaston, Véronique, Bailleul-Forestier, Isabelle, Calvas, Patrick, Chassaing, Nicolas
Published in International journal of molecular sciences (01.02.2024)
Published in International journal of molecular sciences (01.02.2024)
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Journal Article
Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopia
Erjavec, Elisa, Angée, Clémentine, Hadjadj, Djihad, Passet, Bruno, David, Pierre, Kostic, Corinne, Dodé, Emmanuel, Zanlonghi, Xavier, Cagnard, Nicolas, Nedelec, Brigitte, Crippa, Sylvain V, Bole-Feysot, Christine, Zarhrate, Mohammed, Creuzet, Sophie, Castille, Johan, Vilotte, Jean-Luc, Calvas, Patrick, Plaisancié, Julie, Chassaing, Nicolas, Kaplan, Josseline, Rozet, Jean-Michel, Taie, Lucas Fares
Published in American journal of human genetics (13.09.2024)
Published in American journal of human genetics (13.09.2024)
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Journal Article
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules
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
Published in Science (American Association for the Advancement of Science) (26.04.2024)
Published in Science (American Association for the Advancement of Science) (26.04.2024)
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Journal Article
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy
PERRAULT, Isabelle, HANEIN, Sylvain, EDELSON, Catherine, GOLDENBERG, Alice, DUNCOMBE, Alice, LE MEUR, Gylène, HAMEL, Christian, SILVA, Eduardo, NITSCHKE, Patrick, CALVAS, Patrick, MUNNICH, Arnold, ROCHE, Olivier, ZANLONGHI, Xavier, DOLLFUS, Hélène, KAPLAN, Josseline, ROZET, Jean-Michel, SERRE, Valérie, NICOULEAU, Michael, DEFOORT-DELHEMMES, Sabine, DELPHIN, Nathalie, FARES-TAIE, Lucas, GERBER, Sylvie, XERRI, Olivia
Published in Nature genetics (01.09.2012)
Published in Nature genetics (01.09.2012)
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Journal Article
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients
Chesneau, Bertrand, Aubert‐Mucca, Marion, Fremont, Félix, Pechmeja, Jacmine, Soler, Vincent, Isidor, Bertrand, Nizon, Mathilde, Dollfus, Hélène, Kaplan, Josseline, Fares‐Taie, Lucas, Rozet, Jean‐Michel, Busa, Tiffany, Lacombe, Didier, Naudion, Sophie, Amiel, Jeanne, Rio, Marlène, Attie‐Bitach, Tania, Lesage, Cécile, Thouvenin, Dominique, Odent, Sylvie, Morel, Godelieve, Vincent‐Delorme, Catherine, Boute, Odile, Vanlerberghe, Clémence, Dieux, Anne, Boussion, Simon, Faivre, Laurence, Pinson, Lucile, Laffargue, Fanny, Le Guyader, Gwenaël, Le Meur, Guylène, Prieur, Fabienne, Lambert, Victor, Laudier, Beatrice, Cottereau, Edouard, Ayuso, Carmen, Corton‐Pérez, Marta, Bouneau, Laurence, Le Caignec, Cédric, Gaston, Véronique, Jeanton‐Scaramouche, Claire, Dupin‐Deguine, Delphine, Calvas, Patrick, Chassaing, Nicolas, Plaisancié, Julie
Published in Clinical genetics (01.05.2022)
Published in Clinical genetics (01.05.2022)
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Journal Article
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies
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
Published in American journal of human genetics (05.11.2015)
Published in American journal of human genetics (05.11.2015)
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Journal Article
Incomplete penetrance of biallelic ALDH1A3 mutations
Plaisancié, Julie, Brémond-Gignac, Dominique, Demeer, Bénédicte, Gaston, Véronique, Verloes, Alain, Fares-Taie, Lucas, Gerber, Sylvie, Rozet, Jean-Michel, Calvas, Patrick, Chassaing, Nicolas
Published in European journal of medical genetics (01.04.2016)
Published in European journal of medical genetics (01.04.2016)
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Journal Article
TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane
Hanein, Sylvain, Garcia, Mathilde, Fares-Taie, Lucas, Serre, Valérie, De Keyzer, Yves, Delaveau, Thierry, Perrault, Isabelle, Delphin, Nathalie, Gerber, Sylvie, Schmitt, Alain, Masse, Jean-Marc, Munnich, Arnold, Kaplan, Josseline, Devaux, Frédéric, Rozet, Jean-Michel
Published in Biochimica et biophysica acta (01.06.2013)
Published in Biochimica et biophysica acta (01.06.2013)
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Journal Article
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies
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
Published in American journal of human genetics (01.11.2015)
Published in American journal of human genetics (01.11.2015)
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Journal Article
Submicroscopic Deletions at 13q32.1 Cause Congenital Microcoria
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
Published in American journal of human genetics (01.04.2015)
Published in American journal of human genetics (01.04.2015)
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Journal Article