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Thauvin-Robinet, Christel; Garde, Aurore; Favier, Maud; Delanne, Julian; Racine, Caroline; Rousseau, Thierry; Nambot, Sophie; Bruel, Ange-Line; Moutton, Sebastien; Quelin, Chloe; Colson, Cindy; Brehin, Anne-Claire; Guerrot, Anne-Marie; Rooryck, Caroline; Putoux, Audrey; Blanchet, Patricia; Odent, Sylvie; Schaefer, Elise; Boute, Odile; Goldenberg, Alice; Guichet, Agnes; Abel, Carine; Morel, Godelieve; Fradin, Melanie; Isidor, Bertrand; Vincent, Marie; Francannet, Christine; Vera, Gabriella; Petit, Florence; Nizon, Mathilde; Wells, Constance; Jeanne, Mederic; Deiller, Caroline; Ziegler, Alban; Godin, Manon; Saugier-Veber, Pascale; Cassinari, Kevin; Blanc, Pierre; Simon, Emmanuel; Binquet, Christine; Duffourd, Yannis; Safraou, Hana; Denomme-Pichon, Anne-Sophie; Vitobello, Antonio; Philippe, Christophe; Faivre, Laurence; Tran-Mau-Them, Frederic; Bourgon, Nicolas Share Save Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypesScheidecker, Sophie; Bar, Severine; Kroll-Hermi, Ariane; Delvallee, Clarisse; Rinaldi, Bruno; Korpioja, Anita; Geoffroy, Veronique; Schaefer, Elise; Secula, Samira; Jaeger, Catherine; Stoetzel, Corinne; Kassel, Olivier; Straehle, Uwe; Bertoli-Avella, Aida; Zonic, Emir; Lamouche, Jean-Baptiste; Zanlonghi, Xavier; Etard, Christelle; Muller, Jean; Rahikkala, Elisa; Friant, Sylvie; Dollfus, Helene Share Save Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendationsJeanne, Mederic; Ronce, Nathalie; Remize, Solene; Arpin, Stephanie; Baujat, Genevieve; Breton, Sylvain; Petit, Florence; Vanlerberghe, Clemence; Coeslier-Dieux, Anne; Manouvrier-Hanu, Sylvie; Vincent-Delorme, Catherine; Khau Van Kien, Philippe; Van-Gils, Julien; Quelin, Chloe; Pasquier, Laurent; Odent, Sylvie; Demurger, Florence; Laffargue, Fanny; Francannet, Christine; Martin-Coignard, Dominique; Afenjar, Alexandra; Whalen, Sandra; Verloes, Alain; Capri, Yline; Delahaye, Andree; Plaisancie, Julie; Labrune, Philippe; Destree, Anne; Maystadt, Isabelle; Ciorna Monferrato, Viorca; Isidor, Bertrand; Vincent, Marie; Jean Marcais, Nolwen; Nambot, Sophie; Schaefer, Elise; El Chehadeh, Salima; Lespinasse, James; Collignon, Patrick; Busa, Tiffany; Philip, Nicole; Willems, Marjolaine; Planes, Marc; Vanakker, Olivier M.; Lambert, Laetitia; Leheup, Bruno; Mathieu-Dramard, Michele; Morin, Gilles; Dieterich, Klaus; Ginglinger, Emmanuelle; Bayat, Allan; Balasubramanian, Meena; Dauriat, Benjamin; Haye, Damien; Amiel, Jeanne; Rio, Marlene; Cormier-Daire, Valerie; Toutain, Annick Share Save Improving genetic testing pathways for transthyretin amyloidosis in France: challenges and strategiesHebrard, Berenice; Babonneau, Marie-Lise; Charron, Philippe; Consolino, Emilie; Dauriat, Benjamin; Dupin-Deguine, Delphine; Fargeaud, Dominique; Farrugia, Agnes; Giguet-Valard, Anna-Gaelle; Guijarro, Damien; Inamo, Jocelyn; Jeanneteau, Julien; Mazzella, Jean-Michael; Michon, Claire-Cecile; Millat, Gilles; Mouquet, Frederic; Oghina, Silvia; Pereon, Yann; Poinsignon, Vianney; Pompougnac, Julie; Proukhnitzky, Julie; Schaefer, Elise; Sturtz, Franck; Trosdorf, Mathilde; Auguste, Anne; Canali, Giorgia; Combes, Alexandre; Funalot, Benoit; Damy, Thibaud Share Save Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput SequencingdA Multicenter Cohort StudyBaer, Sarah; Schalk, Audrey; Miguet, Marguerite; Schaefer, Elise; El Chehadeh, Salima; Ginglinger, Emmanuelle; Martin, Anne de Saint; Warde, Marie-Therese Abi; Laugel, Vincent; de Feraudy, Yvan; Gauer, Lucas; Hirsch, Edouard; Boulay, Clotilde; Bansept, Claire; Bolocan, Anamaria; Kitadinis, Ismini; Gouronc, Aurelie; Gerard, Benedicte; Piton, Amelie; Scheidecker, Sophie Share Save Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 GeneMancini, Maxence; Chapurlat, Roland; Isidor, Bertrand; Desjonqueres, Marine; Couture, Guillaume; Guggenbuhl, Pascal; Coutant, Regis; El Chehadeh, Salima; Fradin, Melanie; Frazier, Aline; Goldenberg, Alice; Guillot, Pascaline; Koumakis, Eugenie; Mehsen-Cetre, Nadia; Rossi, Massimiliano; Schaefer, Elise; Sigaudy, Sabine; Porquet-Bordes, Valerie; Fontanges, Elisabeth; Letard, Pauline; Edouard, Thomas; Javier, Rose-Marie; Cohen-Solal, Martine; Funck-Brentano, Thomas; Collet, Corinne Share Save Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigationsKrebs-Drouot, Lila; Schalk, Audrey; Schaefer, Elise; Keyser, Christine; Gonzalez, Angela; Calmels, Nadege; Warde, Marie-Therese Abi; Oertel, Laetitia; Acquaviva, Cecile; Mandel, Jean-Louis; Farrugia, Audrey Share Save Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patientsThomas, Hortense; Alix, Tom; Renard, Emeline; Renaud, Mathilde; Wourms, Justine; Zuily, Stephane; Leheup, Bruno; Genevieve, David; Dreumont, Natacha; Schmitt, Emmanuelle; Bronner, Myriam; Muller, Marc; Divoux, Marion; Wandzel, Marion; Ravel, Jean-Marie; Dexheimer, Mylene; Becker, Aurelie; Roth, Virginie; Willems, Marjolaine; Coubes, Christine; Vieville, Gaelle; Devillard, Francoise; Schaefer, Elise; Baer, Sarah; Piton, Amelie; Gerard, Benedicte; Vincent, Marie; Nizon, Mathilde; Cogne, Benjamin; Ruaud, Lyse; Couque, Nathalie; Putoux, Audrey; Edery, Patrick; Lesca, Gaetan; Chatron, Nicolas; Till, Marianne; Faivre, Laurence; Tran-Mau-Them, Frederic; Alessandri, Jean-Luc; Lebrun, Marine; Quelin, Chloe; Odent, Sylvie; Dubourg, Christele; David, Veronique; Faoucher, Marie; Mignot, Cyril; Keren, Boris; Pisan, Elise; Afenjar, Alexandra; Julia, Sophie; Bieth, Eric; Banneau, Guillaume; Goldenberg, Alice; Husson, Thomas; Campion, Dominique; Lecoquierre, Francois; Nicolas, Gael; Charbonnier, Camille; Martin, Anne De Saint; Naudion, Sophie; Degoutin, Manon; Rondeau, Sophie; Michot, Caroline; Cormier-Daire, Valerie; Oussalah, Abderrahim; Pourie, Carine; Lambert, Laetitia; Bonnet, Celine Share Save Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective studyCharpie, Maelle; Brunelle, Perrine; Baujat, Genevieve; Michot, Caroline; Van Gils, Julien; Leheup, Bruno; Schaefer, Elise; Koumakis, Eugenie; Pejin, Zagorka; Pinto, Graziella; Monnot, Sophie; Cormier-Daire, Valerie Share Save Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disordersHusson, Thomas; Lecoquierre, Francois; Nicolas, Gael; Richard, Anne-Claire; Afenjar, Alexandra; Audebert-Bellanger, Severine; Badens, Catherine; Bilan, Frederic; Bizaoui, Varoona; Boland, Anne; Bonnet-Dupeyron, Marie-Noelle; Brischoux-Boucher, Elise; Bonnet, Celine; Bournez, Marie; Boute, Odile; Brunelle, Perrine; Caumes, Roseline; Charles, Perrine; Chassaing, Nicolas; Chatron, Nicolas; Cogne, Benjamin; Colin, Estelle; Cormier-Daire, Valerie; Dard, Rodolphe; Dauriat, Benjamin; Delanne, Julian; Deleuze, Jean-Francois; Demurger, Florence; Denomme-Pichon, Anne-Sophie; Depienne, Christel; Dieux, Anne; Dubourg, Christele; Edery, Patrick; El Chehadeh, Salima; Faivre, Laurence; Fergelot, Patricia; Fradin, Melanie; Garde, Aurore; Genevieve, David; Gilbert-Dussardier, Brigitte; Goizet, Cyril; Goldenberg, Alice; Gouy, Evan; Guerrot, Anne-Marie; Guimier, Anne; Harzalla, Ines; Heron, Delphine; Isidor, Bertrand; Lacombe, Didier; Horn, Xavier Le Guillou; Keren, Boris; Kuechler, Alma; Lacaze, Elodie; Lavillaureix, Alinoe; Lehalle, Daphne; Lesca, Gaetan; Lespinasse, James; Levy, Jonathan; Lyonnet, Stanislas; Morel, Godelieve; Jean-Marcais, Nolwenn; Marlin, Sandrine; Marsili, Luisa; Mignot, Cyril; Nambot, Sophie; Nizon, Mathilde; Olaso, Robert; Pasquier, Laurent; Perrin, Laurine; Petit, Florence; Pingault, Veronique; Piton, Amelie; Prieur, Fabienne; Putoux, Audrey; Planes, Marc; Odent, Sylvie; Quelin, Chloe; Quemener-Redon, Sylvia; Rama, Melanie; Rio, Marlene; Rossi, Massimiliano; Schaefer, Elise; Rondeau, Sophie; Saugier-Veber, Pascale; Smol, Thomas; Sigaudy, Sabine; Touraine, Renaud; Mau-Them, Frederic Tran; Trimouille, Aurelien; Van Gils, Julien; Vanlerberghe, Clemence; Vantalon, Valerie; Vera, Gabriella; Vincent, Marie; Ziegler, Alban; Guillin, Olivier; Campion, Dominique; Charbonnier, Camille Share Save The neurodevelopmental and facial phenotype in individuals with a TRIP12 variantAerden, Mio; Denomme-Pichon, Anne-Sophie; Bonneau, Dominique; Bruel, Ange-Line; Delanne, Julian; Gerard, Benedicte; Mazel, Benoit; Philippe, Christophe; Pinson, Lucile; Prouteau, Clement; Putoux, Audrey; Tran Mau-Them, Frederic; Viora-Dupont, Eleonore; Vitobello, Antonio; Ziegler, Alban; Piton, Amelie; Isidor, Bertrand; Francannet, Christine; Maillard, Pierre-Yves; Julia, Sophie; Philippe, Anais; Schaefer, Elise; Koene, Saskia; Ruivenkamp, Claudia; Hoffer, Mariette; Legius, Eric; Theunis, Miel; Keren, Boris; Buratti, Julien; Charles, Perrine; Courtin, Thomas; Misra-Isrie, Mala; van Haelst, Mieke; Waisfisz, Quinten; Wieczorek, Dagmar; Schmetz, Ariane; Herget, Theresia; Kortuem, Fanny; Lisfeld, Jasmin; Debray, Francois-Guillaume; Bramswig, Nuria C.; Atallah, Isis; Fodstad, Heidi; Jouret, Guillaume; Almoguera, Berta; Tahsin-Swafiri, Saoud; Santos-Simarro, Fernando; Palomares-Bralo, Maria; Lopez-Gonzalez, Vanesa; Kibaek, Maria; Torring, Pernille M.; Renieri, Alessandra; Bruno, Lucia Pia; Ounap, Katrin; Wojcik, Monica; Hsieh, Tzung-Chien; Krawitz, Peter; Van Esch, Hilde Share Save The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performanceBrazane, Mira; Dimitrova, Dilyana G.; Pigeon, Julien; Paolantoni, Chiara; Ye, Tao; Marchand, Virginie; Da Silva, Bruno; Schaefer, Elise; Angelova, Margarita T.; Stark, Zornitza; Delatycki, Martin; Dudding-Byth, Tracy; Gecz, Jozef; Placais, Pierre-Yves; Teysset, Laure; Preat, Thomas; Piton, Amelie; Hassan, Bassem A.; Roignant, Jean-Yves; Motorin, Yuri; Carre, Clement Share Save Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal LesionsHarrer, Philip; Schalk, Audrey; Shimura, Masaru; Baer, Sarah; Calmels, Nadege; Spitz, Marie Aude; Warde, Marie-Therese Abi; Schaefer, Elise; Kittke, Volker M. Sc; Dincer, Yasemin; Wagner, Matias; Dzinovic, Ivana; Berutti, Riccardo; Sato, Tatsuharu; Shirakawa, Toshihiko; Okazaki, Yasushi; Murayama, Kei; Oexle, Konrad; Prokisch, Holger; Mall, Volker; Melcak, Ivo; Winkelmann, Juliane; Zech, Michael Share Save Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome XLeitao, Elsa; Schroeder, Christopher; Parenti, Ilaria; Dalle, Carine; Rastetter, Agnes; Kuehnel, Theresa; Kuechler, Alma; Kaya, Sabine; Gerard, Benedicte; Schaefer, Elise; Nava, Caroline; Drouot, Nathalie; Engel, Camille; Piard, Juliette; Duban-Bedu, Benedicte; Villard, Laurent; Stegmann, Alexander P. A.; Vanhoutte, Els K.; Verdonschot, Job A. J.; Kaiser, Frank J.; Mau-Them, Frederic Tran; Scala, Marcello; Striano, Pasquale; Frints, Suzanna G. M.; Argilli, Emanuela; Sherr, Elliott H.; Elder, Fikret; Buratti, Julien; Keren, Boris; Mignot, Cyril; Heron, Delphine; Mandel, Jean-Louis; Gecz, Jozef; Kalscheuer, Vera M.; Horsthemke, Bernhard; Piton, Amelie; Depienne, Christel Share Save Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlationMaillard, Pierre-Yves; Baer, Sarah; Schaefer, Elise; Desnous, Beatrice; Villeneuve, Nathalie; Lepine, Anne; Fabre, Alexandre; Lacoste, Caroline; El Chehadeh, Salima; Piton, Amelie; Porter, Louise Frances; Perriard, Caroline; Warde, Marie-Therese Abi; Spitz, Marie-Aude; Laugel, Vincent; Lesca, Gaetan; Putoux, Audrey; Ville, Dorothee; Mignot, Cyril; Heron, Delphine; Nabbout, Rima; Barcia, Giulia; Rio, Marlene; Roubertie, Agathe; Meyer, Pierre; Paquis-Flucklinger, Veronique; Patat, Olivier; Lefranc, Jeremie; Gerard, Marion; de Bellescize, Julietta; Villard, Laurent; De Saint Martin, Anne; Milh, Mathieu Share Save Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patientsCoursimault, Juliette; Cassinari, Kevin; Lecoquierre, Francois; Quenez, Olivier; Coutant, Sophie; Derambure, Celine; Vezain, Myriam; Drouot, Nathalie; Vera, Gabriella; Schaefer, Elise; Philippe, Anais; Doray, Berenice; Lambert, Laetitia; Ghoumid, Jamal; Smol, Thomas; Rama, Melanie; Legendre, Marine; Lacombe, Didier; Fergelot, Patricia; Olaso, Robert; Boland, Anne; Deleuze, Jean-Francois; Goldenberg, Alice; Saugier-Veber, Pascale; Nicolas, Gael Share Save 
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