Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications von Wolfe, Kate, McQuillin, Andrew, Alesi, Viola, Boudry Labis, Elise, Cutajar, Peter, Dallapiccola, Bruno, Dentici, Maria Lisa, Dieux‐Coeslier, Anne, Duban‐Bedu, Benedicte, Duelund Hjortshøj, Tina, Goel, Himanshu, Loddo, Sara, Morrogh, Deborah, Mosca‐Boidron, Anne‐Laure, Novelli, Antonio, Olivier‐Faivre, Laurence, Parker, Jennifer, Parker, Michael J., Patch, Christine, Pelling, Anna L., Smol, Thomas, Tümer, Zeynep, Vanakker, Olivier, van Haeringen, Arie, Vanlerberghe, Clémence, Strydom, Andre, Skuse, David, Bass, Nick

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Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway von Dubourg, Christèle, Carré, Wilfrid, Hamdi-Rozé, Houda, Mouden, Charlotte, Roume, Joëlle, Abdelmajid, Benmansour, Amram, Daniel, Baumann, Clarisse, Chassaing, Nicolas, Coubes, Christine, Faivre-Olivier, Laurence, Ginglinger, Emmanuelle, Gonzales, Marie, Levy-Mozziconacci, Annie, Lynch, Sally-Ann, Naudion, Sophie, Pasquier, Laurent, Poidvin, Amélie, Prieur, Fabienne, Sarda, Pierre, Toutain, Annick, Dupé, Valérie, Akloul, Linda, Odent, Sylvie, de Tayrac, Marie, David, Véronique

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WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation von Mignot, Cyril, Lambert, Laetitia, Pasquier, Laurent, Bienvenu, Thierry, Delahaye-Duriez, Andrée, Keren, Boris, Lefranc, Jérémie, Saunier, Aline, Allou, Lila, Roth, Virginie, Valduga, Mylène, Moustaïne, Aissa, Auvin, Stéphane, Barrey, Catherine, Chantot-Bastaraud, Sandra, Lebrun, Nicolas, Moutard, Marie-Laure, Nougues, Marie-Christine, Vermersch, Anne-Isabelle, Héron, Bénédicte, Pipiras, Eva, Héron, Delphine, Olivier-Faivre, Laurence, Guéant, Jean-Louis, Jonveaux, Philippe, Philippe, Christophe

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Visual coding in locust photoreceptors von Faivre, Olivier, Juusola, Mikko

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POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum von Rossi, Alessandra, Blok, Lot Snijders, Neuser, Sonja, Klöckner, Chiara, Platzer, Konrad, Faivre, Laurence Olivier, Weigand, Heike, Dentici, Maria L., Tartaglia, Marco, Niceta, Marcello, Alfieri, Paolo, Srivastava, Siddharth, Coulter, David, Smith, Lacey, Vinorum, Kristin, Cappuccio, Gerarda, Brunetti‐Pierri, Nicola, Torun, Deniz, Arslan, Mutluay, Lauridsen, Mathilde F., Murch, Oliver, Irving, Rachel, Lynch, Sally A., Mehta, Sarju G., Carmichael, Jenny, Zonneveld‐Huijssoon, Evelien, Vries, Bert, Kleefstra, Tjitske, Johannesen, Katrine M., Westphall, Ian T., Hughes, Susan S., Smithson, Sarah, Evans, Julie, Dudding‐Byth, Tracy, Simon, Marleen, Binsbergen, Ellen, Herkert, Johanna C., Beunders, Gea, Oppermann, Henry, Bakal, Mert, Møller, Rikke S., Rubboli, Guido, Bayat, Allan

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6q22.1 deletion is associated with epilepsy and abnormal movements von Schluth-Bolard, C, Flamand-Roze, E, Masurel, A, Olivier-Faivre, L, Callier, P, Charles, P, Keren, B, Guillot, N, Labalme, A, Sanlaville, D, Mochel, F, Des Portes, V, Lesca, G

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Diversity of the clinical presentation of the MMR gene biallelic mutations von Bougeard, Gaëlle, Olivier-Faivre, Laurence, Baert-Desurmont, Stéphanie, Tinat, Julie, Martin, Cosette, Bouvignies, Emilie, Vasseur, Stéphanie, Huet, Frédéric, Couillault, Gérard, Vabres, Pierre, Le Pessot, Florence, Chapusot, Caroline, Malka, David, Bressac-de Paillerets, Brigitte, Tosi, Mario, Frebourg, Thierry

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Walking naturally after spinal cord injury using a brain–spine interface von Lorach, Henri, Galvez, Andrea, Spagnolo, Valeria, Martel, Felix, Karakas, Serpil, Intering, Nadine, Vat, Molywan, Faivre, Olivier, Harte, Cathal, Komi, Salif, Ravier, Jimmy, Collin, Thibault, Coquoz, Laure, Sakr, Icare, Baaklini, Edeny, Hernandez-Charpak, Sergio Daniel, Dumont, Gregory, Buschman, Rik, Buse, Nicholas, Denison, Tim, van Nes, Ilse, Asboth, Leonie, Watrin, Anne, Struber, Lucas, Sauter-Starace, Fabien, Langar, Lilia, Auboiroux, Vincent, Carda, Stefano, Chabardes, Stephan, Aksenova, Tetiana, Demesmaeker, Robin, Charvet, Guillaume, Bloch, Jocelyne, Courtine, Grégoire

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Juvenile Xanthogranuloma and Nevus Anemicus in the Diagnosis of Neurofibromatosis Type 1 von Ferrari, Faustine, Masurel, Alice, Olivier-Faivre, Laurence, Vabres, Pierre

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Tonic signaling from O2 sensors sets neural circuit activity and behavioral state von Busch, Karl Emanuel, Laurent, Patrick, Soltesz, Zoltan, Murphy, Robin Joseph, Faivre, Olivier, Hedwig, Berthold, Thomas, Martin, Smith, Heather L, de Bono, Mario

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Cancer Risks Associated With Germline Mutations in MLH1, MSH2, and MSH6 Genes in Lynch Syndrome von Bonadona, Valérie, Bonaïti, Bernard, Olschwang, Sylviane, Grandjouan, Sophie, Huiart, Laetitia, Longy, Michel, Guimbaud, Rosine, Buecher, Bruno, Bignon, Yves-Jean, Caron, Olivier, Colas, Chrystelle, Noguès, Catherine, Lejeune-Dumoulin, Sophie, Olivier-Faivre, Laurence, Polycarpe-Osaer, Florence, Nguyen, Tan Dat, Desseigne, Françoise, Saurin, Jean-Christophe, Berthet, Pascaline, Leroux, Dominique, Duffour, Jacqueline, Manouvrier, Sylvie, Frébourg, Thierry, Sobol, Hagay, Lasset, Christine, Bonaïti-Pellié, Catherine, French Cancer Genetics Network, for the

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Marfan syndrome diagnosed during childhood: Focus on cardiac events in the French database von Hascoet, S, Dulac, Y, Ruidavets, J.B, Edouart, T, Arnoult, F, Milleron, O, Stheneur, C, Chevallier, B, Zordan, C, Odent, S, Philip, N, Olivier-Faivre, L, Leheup, B, Dubois-Girod, S, Acar, P, Ferrières, J, Jondeau, G

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Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities von D’Angelo, Debra, Lebon, Sébastien, Chen, Qixuan, Martin-Brevet, Sandra, Snyder, LeeAnne Green, Hippolyte, Loyse, Hanson, Ellen, Maillard, Anne M, Faucett, W. Andrew, Macé, Aurélien, Pain, Aurélie, Bernier, Raphael, Chawner, Samuel J. R. A, David, Albert, Andrieux, Joris, Aylward, Elizabeth, Baujat, Genevieve, Caldeira, Ines, Conus, Philippe, Ferrari, Carrina, Forzano, Francesca, Gérard, Marion, Goin-Kochel, Robin P, Grant, Ellen, Hunter, Jill V, Isidor, Bertrand, Jacquette, Aurélia, Jønch, Aia E, Keren, Boris, Lacombe, Didier, Le Caignec, Cédric, Martin, Christa Lese, Männik, Katrin, Metspalu, Andres, Mignot, Cyril, Mukherjee, Pratik, Owen, Michael J, Passeggeri, Marzia, Rooryck-Thambo, Caroline, Rosenfeld, Jill A, Spence, Sarah J, Steinman, Kyle J, Tjernagel, Jennifer, Van Haelst, Mieke, Shen, Yiping, Draganski, Bogdan, Sherr, Elliott H, Ledbetter, David H, van den Bree, Marianne B. M, Beckmann, Jacques S, Spiro, John E, Reymond, Alexandre, Jacquemont, Sébastien, Chung, Wendy K

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Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing von Redin, Claire, Gérard, Bénédicte, Lauer, Julia, Herenger, Yvan, Muller, Jean, Quartier, Angélique, Masurel-Paulet, Alice, Willems, Marjolaine, Lesca, Gaétan, El-Chehadeh, Salima, Le Gras, Stéphanie, Vicaire, Serge, Philipps, Muriel, Dumas, Michaël, Geoffroy, Véronique, Feger, Claire, Haumesser, Nicolas, Alembik, Yves, Barth, Magalie, Bonneau, Dominique, Colin, Estelle, Dollfus, Hélène, Doray, Bérénice, Delrue, Marie-Ange, Drouin-Garraud, Valérie, Flori, Elisabeth, Fradin, Mélanie, Francannet, Christine, Goldenberg, Alice, Lumbroso, Serge, Mathieu-Dramard, Michèle, Martin-Coignard, Dominique, Lacombe, Didier, Morin, Gilles, Polge, Anne, Sukno, Sylvie, Thauvin-Robinet, Christel, Thevenon, Julien, Doco-Fenzy, Martine, Genevieve, David, Sarda, Pierre, Edery, Patrick, Isidor, Bertrand, Jost, Bernard, Olivier-Faivre, Laurence, Mandel, Jean-Louis, Piton, Amélie

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Risk markers of cardiac events in patients with Marfan syndrome diagnosed during childhood von Hascoet, S., MD, Dulac, Y., MD, Ruidavets, J.B., MD, Edouart, T., MD, PhD, Arnoult, F., MD, Milleron, O., MD, Stheneur, C., MD, Chevallier, B., MD, PhD, Zordan, C., MD, Odent, S., MD, PhD, Philip, N., MD, PhD, Olivier-Faivre, L., MD, PhD, Leheup, B., MD, Dubois-Girod, S., MD, Acar, P., MD, PhD, Ferrières, J., MD, PhD, Jondeau, G., MD

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Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing von Kuentz, Paul, St-Onge, Judith, Duffourd, Yannis, Courcet, Jean-Benoît, Carmignac, Virginie, Jouan, Thibaud, Sorlin, Arthur, Abasq-Thomas, Claire, Albuisson, Juliette, Amiel, Jeanne, Amram, Daniel, Arpin, Stéphanie, Attie-Bitach, Tania, Bahi-Buisson, Nadia, Barbarot, Sébastien, Baujat, Geneviève, Bessis, Didier, Boccara, Olivia, Bonnière, Maryse, Boute, Odile, Bursztejn, Anne-Claire, Chiaverini, Christine, Cormier-Daire, Valérie, Coubes, Christine, Delobel, Bruno, Edery, Patrick, Chehadeh, Salima El, Francannet, Christine, Geneviève, David, Goldenberg, Alice, Haye, Damien, Isidor, Bertrand, Jacquemont, Marie-Line, Khau Van Kien, Philippe, Lacombe, Didier, Martin, Ludovic, Martinovic, Jelena, Maruani, Annabel, Mathieu-Dramard, Michèle, Mazereeuw-Hautier, Juliette, Michot, Caroline, Mignot, Cyril, Miquel, Juliette, Morice-Picard, Fanny, Petit, Florence, Phan, Alice, Rossi, Massimiliano, Touraine, Renaud, Verloes, Alain, Vincent, Marie, Vincent-Delorme, Catherine, Whalen, Sandra, Willems, Marjolaine, Marle, Nathalie, Lehalle, Daphné, Thevenon, Julien, Thauvin-Robinet, Christel, Hadj-Rabia, Smaïl, Faivre, Laurence, Vabres, Pierre, Rivière, Jean-Baptiste

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Exome sequencing in the etiologic assessment of the stroke of the young von Mania-Pâris, Loraine, Thomas, Quentin, Vitobello, Antonio, Mau-Them, Frédéric Tran, Duffourd, Yannis, Graber, Mathilde, Hervieu-Begue, Marie, Osseby, Guy Victor, Mohr, Sophie, Labarre, Christelle Blanc, Nambot, Sophie, Bruel, Ange-Line, Denomme-Pichon, Anne-Sophie, Thauvin-Robinet, Christel, Olivier-Faivre, Laurence, Bejot, Yannick

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Mosaicism for a KITLG Mutation in Linear and Whorled Nevoid Hypermelanosis von Sorlin, Arthur, Maruani, Annabel, Aubriot-Lorton, Marie-Hélène, Kuentz, Paul, Duffourd, Yannis, Teysseire, Sandra, Carmignac, Virginie, St-Onge, Judith, Chevarin, Martin, Jouan, Thibaud, Thauvin-Robinet, Christel, Thevenon, Julien, Faivre, Laurence, Rivière, Jean-Baptiste, Vabres, Pierre

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Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors von Lhussiez, Vincent, Dubus, Elisabeth, Cesar, Quenol, Acar, Niyazi, Nandrot, Emeline F., Simonutti, Manuel, Audo, Isabelle, Lize, Eleonore, Nguyen, Sylvie, Geissler, Audrey, Bouchot, Andre, Ansar, Muhammad, Picaud, Serge, Thauvin-Robinet, Christel, Olivier-Faivre, Laurence, Duplomb, Laurence, Da Costa, Romain

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How Many Patients Have Congenital Neutropenia? a Population-Based Estimation from the Nationwide French Severe Chronic Neutropenia Registry von Donadieu, Jean, Beaupain, Blandine, Lapillonne, Hélène, Fenneteau, Odile, Sicre de Fontbrune, Flore, Bertrand, Yves, Aladjidi, Nathalie, Barlogis, Vincent, Abou Chahla, Wadih, Lamy, Thierry, Moignet Autrel, Aline, Fieschi, Claire, Leblanc, Thierry, Moshous, Despina, Soulier, Jean, cohen Beaussant, Sarah, Delhommeau, Francois, Cavé, Helene, Paillard, Catherine, Gouache, Elodie, bou Mitri, Fares, Bonnet, Damien, Olivier Faivre, Laurence, Labrune, Philippe, Pasquet, Marlène, Gandemer, Virginie, Mahlaoui, Nizar, Balabanian, Karl, Bachelerie, Francoise, Bellanne-Chantelot, Christine

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