Crossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia von Smirnov, Vasily M., Lasseaux, Eulalie, Michaud, Vincent, Courdier, Cécile, Meunier, Isabelle, Arveiler, Benoit, Defoort-Dhellemmes, Sabine

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SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability von Bogaert, Elke, Garde, Aurore, Gautier, Thierry, Rooney, Kathleen, Duffourd, Yannis, LeBlanc, Pontus, van Reempts, Emma, Tran Mau-Them, Frederic, Wentzensen, Ingrid M., Au, Kit Sing, Richardson, Kate, Northrup, Hope, Gatinois, Vincent, Geneviève, David, Louie, Raymond J., Lyons, Michael J., Laulund, Lone Walentin, Brasch-Andersen, Charlotte, Maxel Juul, Trine, El It, Fatima, Marle, Nathalie, Callier, Patrick, Relator, Raissa, Haghshenas, Sadegheh, McConkey, Haley, Kerkhof, Jennifer, Cesario, Claudia, Novelli, Antonio, Brunetti-Pierri, Nicola, Pinelli, Michele, Pennamen, Perrine, Naudion, Sophie, Legendre, Marine, Courdier, Cécile, Trimouille, Aurelien, Fenzy, Martine Doco, Pais, Lynn, Yeung, Alison, Nugent, Kimberly, Roeder, Elizabeth R., Mitani, Tadahiro, Posey, Jennifer E., Calame, Daniel, Yonath, Hagith, Rosenfeld, Jill A., Musante, Luciana, Faletra, Flavio, Montanari, Francesca, Sartor, Giovanna, Vancini, Alessandra, Seri, Marco, Besmond, Claude, Poirier, Karine, Hubert, Laurence, Hemelsoet, Dimitri, Munnich, Arnold, Lupski, James R., Philippe, Christophe, Thauvin-Robinet, Christel, Faivre, Laurence, Sadikovic, Bekim, Govin, Jérôme, Dermaut, Bart, Vitobello, Antonio

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EPHA2 biallelic disruption causes syndromic complex microphthalmia with iris hypoplasia von Courdier, Cécile, Gemahling, Anna, Guindolet, Damien, Barjol, Amandine, Scaramouche, Claire, Bouneau, Laurence, Calvas, Patrick, Martin, Gilles, Chassaing, Nicolas, Plaisancié, Julie

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Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome) von Courdier, Cécile, Boudjarane, John, Malan, Valérie, Muti, Christine, Sperelakis‐Beedham, Brian, Odent, Sylvie, Jaillard, Sylvie, Quelin, Chloé, Le Caignec, Cédric, Patat, Olivier, Dubucs, Charlotte, Julia, Sophie, Schluth‐Bolard, Caroline, Goumy, Carole, Redon, Sylvia, Gaillard, Jean‐Baptiste, Huynh, Minh Tuan, Dupont, Céline, Tabet, Anne‐Claude, Cogan, Guillaume, Vialard, François, Dard, Rodolphe, Jedraszak, Guillaume, Jobic, Florence, Lefebvre, Mathilde, Quenum, Geneviève, Inai, Saori, Rama, Mélanie, Sauvestre, Fanny, Coatleven, Frédéric, Thomas, Julie, Rooryck, Caroline

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The different clinical facets of SYN1 -related neurodevelopmental disorders von Parenti, Ilaria, Leitão, Elsa, Kuechler, Alma, Villard, Laurent, Goizet, Cyril, Courdier, Cécile, Bayat, Allan, Rossi, Alessandra, Julia, Sophie, Bruel, Ange-Line, Tran Mau-Them, Frédéric, Nambot, Sophie, Lehalle, Daphné, Willems, Marjolaine, Lespinasse, James, Ghoumid, Jamal, Caumes, Roseline, Smol, Thomas, El Chehadeh, Salima, Schaefer, Elise, Abi-Warde, Marie-Thérèse, Keren, Boris, Afenjar, Alexandra, Tabet, Anne-Claude, Levy, Jonathan, Maruani, Anna, Aledo-Serrano, Ángel, Garming, Waltraud, Milleret-Pignot, Clara, Chassevent, Anna, Koopmans, Marije, Verbeek, Nienke E, Person, Richard, Belles, Rebecca, Bellus, Gary, Salbert, Bonnie A, Kaiser, Frank J, Mazzola, Laure, Convers, Philippe, Perrin, Laurine, Piton, Amélie, Wiegand, Gert, Accogli, Andrea, Brancati, Francesco, Benfenati, Fabio, Chatron, Nicolas, Lewis-Smith, David, Thomas, Rhys H, Zara, Federico, Striano, Pasquale, Lesca, Gaetan, Depienne, Christel

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A patient with TPCN2-related hypopigmentation and ocular phenotype von Courdier, Cécile, Michaud, Vincent, Diallo, Modibo, Plaisant, Claudio, Lasseaux, Eulalie, Helot, Isabelle, Philippe, Elodie, Vrielynck, Els, Willems, Marjolaine, Arveiler, Benoit

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Functional Characterization of Splice Variants in the Diagnosis of Albinism von Diallo, Modibo, Courdier, Cécile, Mercier, Elina, Sequeira, Angèle, Defay-Stinat, Alicia, Plaisant, Claudio, Mesdaghi, Shahram, Rigden, Daniel, Javerzat, Sophie, Lasseaux, Eulalie, Bourgeade, Laetitia, Audebert-Bellanger, Séverine, Dollfus, Hélène, Hadj-Rabia, Smail, Morice-Picard, Fanny, Philibert, Manon, Sidibé, Mohamed Kole, Smirnov, Vasily, Sylla, Ousmane, Michaud, Vincent, Arveiler, Benoit

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SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability von Bogaert, Elke, Garde, Aurore, Gautier, Thierry, Rooney, Kathleen, Duffourd, Yannis, LeBlanc, Pontus, Van Reempts, Emma, Tran Mau-Them, Frederic, Wentzensen, Ingrid M, Au, Kit Sing, Richardson, Kate, Northrup, Hope, Gatinois, Vincent, Geneviève, David, Louie, Raymond J, Lyons, Michael J, Laulund, Lone Walentin, Brasch-Andersen, Charlotte, Maxel Juul, Trine, El It, Fatima, Marle, Nathalie, Callier, Patrick, Relator, Raissa, Haghshenas, Sadegheh, McConkey, Haley, Kerkhof, Jennifer, Cesario, Claudia, Novelli, Antonio, Brunetti-Pierri, Nicola, Pinelli, Michele, Pennamen, Perrine, Naudion, Sophie, Legendre, Marine, Courdier, Cécile, Trimouille, Aurelien, Fenzy, Martine Doco, Pais, Lynn, Yeung, Alison, Nugent, Kimberly, Roeder, Elizabeth R, Mitani, Tadahiro, Posey, Jennifer E, Calame, Daniel, Yonath, Hagith, Rosenfeld, Jill A, Musante, Luciana, Faletra, Flavio, Montanari, Francesca, Sartor, Giovanna, Vancini, Alessandra, Seri, Marco, Besmond, Claude, Poirier, Karine, Hubert, Laurence, Hemelsoet, Dimitri, Munnich, Arnold, Lupski, James R, Philippe, Christophe, Thauvin-Robinet, Christel, Faivre, Laurence, Sadikovic, Bekim, Govin, Jérôme, Dermaut, Bart, Vitobello, Antonio

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The different clinical facets of SYN1-related neurodevelopmental disorders von Parenti, Ilaria, Leitão, Elsa, Kuechler, Alma, Villard, Laurent, Goizet, Cyril, Courdier, Cécile, Bayat, Allan, Rossi, Alessandra, Julia, Sophie, Bruel, Ange-Line, Tran Mau-Them, Frédéric, Nambot, Sophie, Lehalle, Daphné, Willems, Marjolaine, Lespinasse, James, Ghoumid, Jamal, Caumes, Roseline, Smol, Thomas, El Chehadeh, Salima, Schaefer, Elise, Abi-Warde, Marie-Thérèse, Keren, Boris, Afenjar, Alexandra, Tabet, Anne-Claude, Levy, Jonathan, Maruani, Anna, Aledo-Serrano, Ángel, Garming, Waltraud, Milleret-Pignot, Clara, Chassevent, Anna, Koopmans, Marije, Verbeek, Nienke, Person, Richard, Belles, Rebecca, Bellus, Gary, Salbert, Bonnie, Kaiser, Frank, Mazzola, Laure, Convers, Philippe, Perrin, Laurine, Piton, Amélie, Wiegand, Gert, Accogli, Andrea, Brancati, Francesco, Benfenati, Fabio, Chatron, Nicolas, Lewis-Smith, David, Thomas, Rhys, Zara, Federico, Striano, Pasquale, Lesca, Gaetan, Depienne, Christel

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