Cerebellar and Striatal Implications in Autism Spectrum Disorders: From Clinical Observations to Animal Models von Thabault, Mathieu, Turpin, Valentine, Maisterrena, Alexandre, Jaber, Mohamed, Egloff, Matthieu, Galvan, Laurie

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Postzygotic Breakages of Dicentric Chromosomes: A Rare Mechanism of Terminal Deletions von Foucart, Caroline, Le Guyader, Gwenaël, Vequeau-Goua, Valérie, Gilbert-Dussardier, Brigitte, Egloff, Matthieu

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2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review von Bouassida, Malek, Egloff, Matthieu, Levy, Jonathan, Chatron, Nicolas, Bernardini, Laura, Le Guyader, Gwenaël, Tabet, Anne-Claude, Schluth-Bolard, Caroline, Brancati, Francesco, Giuffrida, Maria Grazia, Dard, Rodolphe, Clorennec, Juliette, Coursimault, Juliette, Vialard, François, Hervé, Bérénice

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Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination von Masson, Julie, Pebrel-Richard, Céline, Egloff, Matthieu, Frétigny, Mathilde, Beaumont, Marion, Uguen, Kevin, Rollat-Farnier, Pierre‐antoine, Diguet, Flavie, Perthus, Isabelle, Le Gudayer, Gwenaël, Haye, Damien, Dupeyron, Marie‐noëlle Bonnet, Putoux, Audrey, Raskin-Champion, Fabienne, Till, Marianne, Chatron, Nicolas, Doray, Bérénice, Bardel, Claire, Vinciguerra, Christine, Sanlaville, Damien, Schluth-Bolard, Caroline

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12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A von Niclass, Tanguy, Le Guyader, Gwenael, Beneteau, Claire, Joubert, Madeleine, Pizzuti, Antonio, Giuffrida, Maria Grazia, Bernardini, Laura, Gilbert‐Dussardier, Brigitte, Bilan, Frederic, Egloff, Matthieu

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SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects von Hureaux, Marguerite, Ben Miled, Selima, Chatron, Nicolas, Coussement, Aurelie, Bessières, Bettina, Egloff, Matthieu, Mechler, Charlotte, Stirnemann, Julien, Tsatsaris, Vassilis, Barcia, Giulia, Turleau, Catherine, Ville, Yves, Encha‐Razavi, Ferechte, Attie‐Bitach, Tania, Malan, Valérie

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YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse von Denomme-Pichon, Anne-Sophie, Collins, Stephan C, Bruel, Ange-Line, Mikhaleva, Anna, Wagner, Christel, Vancollie, Valerie E, Thomas, Quentin, Chevarin, Martin, Weber, Mathys, Prada, Carlos E, Overs, Alexis, Palomares-Bralo, Marta, Santos-Simarro, Fernando, Pacio-Miguez, Marta, Busa, Tiffany, Legius, Eric, Bacino, Carlos A, Rosenfeld, Jill A, Le Guyader, Gwenael, Egloff, Matthieu, Le Guillou, Xavier, Mencarelli, Maria Antonietta, Renieri, Alessandra, Grosso, Salvatore, Levy, Jonathan, Dozieres, Blandine, Desguerre, Isabelle, Vitobello, Antonio, Duffourd, Yannis, Lelliott, Christopher J, Thauvin-Robinet, Christel, Philippe, Christophe, Faivre, Laurence, Yalcin, Binnaz

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Potential selection of genetically balanced spermatozoa based on the hypo-osmotic swelling test in chromosomal rearrangement carriers von Rouen, Alexandre, Carlier, Léa, Heide, Solveig, Egloff, Matthieu, Marzin, Pauline, Ader, Flavie, Schwartz, Mathias, Rogers, Eli, Joyé, Nicole, Balet, Richard, Lédée, Nathalie, Prat-Ellenberg, Laura, Cassuto, Nino Guy, Siffroi, Jean-Pierre

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Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination von Masson, Julie, Pebrel‐Richard, Céline, Egloff, Matthieu, Frétigny, Mathilde, Beaumont, Marion, Uguen, Kevin, Rollat‐Farnier, Pierre‐Antoine, Diguet, Flavie, Perthus, Isabelle, Le Gudayer, Gwenaël, Haye, Damien, Dupeyron, Marie‐Noëlle Bonnet, Putoux, Audrey, Raskin‐Champion, Fabienne, Till, Marianne, Chatron, Nicolas, Doray, Bérénice, Bardel, Claire, Vinciguerra, Christine, Sanlaville, Damien, Schluth‐Bolard, Caroline

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3q29 duplications: A cohort of 46 patients and a literature review von Massier, Marie, Doco‐Fenzy, Martine, Egloff, Matthieu, Le Guillou, Xavier, Le Guyader, Gwenaël, Redon, Sylvia, Benech, Caroline, Le Millier, Karine, Uguen, Kevin, Ropars, Juliette, Sacaze, Elise, Audebert‐Bellanger, Séverine, Apetrei, Andreea, Molin, Arnaud, Gruchy, Nicolas, Vincent‐Devulder, Aline, Spodenkiewicz, Marta, Jacquin, Clémence, Loron, Gauthier, Thibaud, Marie, Delplancq, Geoffroy, Brisset, Sophie, Lesieur‐Sebellin, Marion, Malan, Valérie, Romana, Serge, Rio, Marlène, Marlin, Sandrine, Amiel, Jeanne, Marquet, Valentine, Dauriat, Benjamin, Moradkhani, Kamran, Mercier, Sandra, Isidor, Bertrand, Arpin, Stéphanie, Pujalte, Mathilde, Jedraszak, Guillaume, Pebrel‐Richard, Céline, Salaun, Gaëlle, Laffargue, Fanny, Boudjarane, John, Missirian, Chantal, Chelloug, Nora, Toutain, Annick, Chiesa, Jean, Keren, Boris, Mignot, Cyril, Gouy, Evan, Jaillard, Sylvie, Landais, Emilie, Poirsier, Céline

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YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse von Denommé-Pichon, Anne-Sophie, Collins, Stephan C., Bruel, Ange-Line, Mikhaleva, Anna, Wagner, Christel, Vancollie, Valerie E., Thomas, Quentin, Chevarin, Martin, Weber, Mathys, Prada, Carlos E., Overs, Alexis, Palomares-Bralo, María, Santos-Simarro, Fernando, Pacio-Míguez, Marta, Busa, Tiffany, Legius, Eric, Bacino, Carlos A., Rosenfeld, Jill A., Le Guyader, Gwenaël, Egloff, Matthieu, Le Guillou, Xavier, Mencarelli, Maria Antonietta, Renieri, Alessandra, Grosso, Salvatore, Levy, Jonathan, Dozières, Blandine, Desguerre, Isabelle, Vitobello, Antonio, Duffourd, Yannis, Lelliott, Christopher J., Thauvin-Robinet, Christel, Philippe, Christophe, Faivre, Laurence, Yalcin, Binnaz

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Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome von Jouret, Guillaume, Egloff, Matthieu, Landais, Emilie, Tassy, Olivier, Giuliano, Fabienne, Karmous‐Benailly, Houda, Coutton, Charles, Satre, Véronique, Devillard, Françoise, Dieterich, Klaus, Vieville, Gaëlle, Kuentz, Paul, Caignec, Cédric, Beneteau, Claire, Isidor, Bertrand, Nizon, Mathilde, Callier, Patrick, Marquet, Valentine, Bieth, Eric, Lévy, Jonathan, Tabet, Anne‐Claude, Lyonnet, Stanislas, Baujat, Geneviève, Rio, Marlène, Cartault, François, Scheidecker, Sophie, Gouronc, Aurélie, Schalk, Audrey, Jacquin, Clémence, Spodenkiewicz, Marta, Angélini, Chloé, Pennamen, Perrine, Rooryck, Caroline, Doco‐Fenzy, Martine, Poirsier, Céline

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Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance von Egloff, Matthieu, Nguyen, Lam-Son, Siquier-Pernet, Karine, Cormier-Daire, Valérie, Baujat, Geneviève, Attié-Bitach, Tania, Bole-Feysot, Christine, Nitschke, Patrick, Vekemans, Michel, Colleaux, Laurence, Malan, Valérie

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A French Approach to Test Fetuses with Ultrasound Abnormalities Using a Customized Microarray as First-Tier Genetic Test von Malan, Valérie, Lapierre, Jean-Michel, Egloff, Matthieu, Goidin, Didier, Beaujard, Marie-Paule, Maurin, Marie-Laure, Attié-Bitach, Tania, Bessières, Bettina, Bernard, Jean-Pierre, Roth, Philippe, Stirnemann, Julien, Salomon, Laurent, Romana, Serge, Vekemans, Michel, Ville, Yves, Turleau, Catherine

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Transmission d’un chromosome dicentrique suivi de cassures post-zygotiques : un mécanisme rare à l’origine de délétions terminales von Egloff, Matthieu, Foucart, Caroline, Vequeau-Goua, Valérie, Bilan, Frédéric, Gilbert-Dussardier, Brigitte, Le Guyader, Gwenael

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Translating Cell-Based Regenerative Medicines from Research to Successful Products: Challenges and Solutions von Bayon, Yves, Vertès, Alain A., Ronfard, Vincent, Egloff, Matthieu, Snykers, Sarah, Salinas, Gabriella Franco, Thomas, Robert, Girling, Alan, Lilford, Richard, Clermont, Gaelle, Kemp, Paul

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17q21.31 Microdeletion: Brain Anomalies Leading to Prenatal Diagnosis von Egloff, Matthieu, Encha-Razavi, Ferechte, Garel, Catherine, Bonnière-Darcy, Maryse, Millischer, Anne-Elodie, Lapierre, Jean-Michel, Fontaine, Sophie, de Blois, Marie-Christine, Vekemans, Michel, Turleau, Catherine, Ville, Yves, Malan, Valérie

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Syndrome microdélétionnel 12q21 : une région critique de 1,6 Mb, comprenant les gènes SYT1 et PPP1R12A von Egloff, Matthieu, Niclass, Tanguy, Le Guyader, Gwenael, Beneteau, Claire, Joubert, Madeleine, Pizzuti, Antonio, Giuffrida, Maria Grazia, Bernardini, Laura, Gilbert-Dussardier, Brigitte, Bilan, Frédéric

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Apport de l’ACPA chez les fœtus sans signe d’appel échographique : étude rétrospective incluant 317 fœtus von Egloff, Matthieu, Poli, Antoine, Beaujard, Marie-Paule, Maurin, Marie-Laure, Ville, Yves, Romana, Serge, Salomon, Laurent, Malan, Valérie

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Scale-up of hepatic progenitor cells from multitray stack to 2-D bioreactors von Egloff, Matthieu, Collignon, Florence, Michiels, Jean-François, Goffinet, Jonathan, Snykers, Sarah, Willemsen, Philippe, Gumy, Christophe, Dedry, Claude, Castillo, Jose, Drugmand, Jean-Christophe

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