Psychiatric disorders among patients admitted to a French medical emergency service by Saliou, Veronique, Fichelle, Anika, McLoughlin, Mary, Thauvin, Isabelle, Lejoyeux, Michel

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Suicide attempts by jumping and length of stay in general hospital: A retrospective study of 225 patients by Todorov, Louise, Vulser, Hélène, Pirracchio, Romain, Thauvin, Isabelle, Radtchenko, Andrei, Vidal, Jean, Guigui, Pierre, Limosin, Frédéric, Lemogne, Cédric

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Alcohol use disorder severity and readiness to change: The moderating roles of sex, age and referral to treatment in at-risk alcohol users visiting the emergency department by Airagnes, Guillaume, Ferrand, Lisa, Matta, Joane, Thauvin, Isabelle, Le Faou, Anne-Laurence, Juvin, Philippe, Limosin, Frédéric

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Does a standardized screening for alcohol use disorder at the Emergency Department inform the risk of repeated ED visit? by Airagnes, Guillaume, Le Faou, Anne-Laurence, Duviviers, Emmanuel, Pot, Anne-Louise, Thauvin, Isabelle, Chatellier, Gilles, Juvin, Philippe, Lemogne, Cédric, Limosin, Frédéric

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Study of impulse control disorders among women presenting nicotine dependence by Lejoyeux, Michel, Kerner, Laurent, Thauvin, Isabelle, Loi, Sabrina

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Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy by Gabrielle, Pierre-Henry, Faivre, Laurence, Audo, Isabelle, Zanlonghi, Xavier, Dollfus, Hélène, Thiadens, Alberta A. H. J., Zeitz, Christina, Mancini, Grazia M. S., Perdomo, Yaumara, Mohand-Saïd, Saddek, Lizé, Eléonore, Lhussiez, Vincent, Nandrot, Emeline F., Acar, Niyazi, Creuzot-Garcher, Catherine, Sahel, José-Alain, Ansar, Muhammad, Thauvin-Robinet, Christel, Duplomb, Laurence, Da Costa, Romain

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ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum by Bruel, Ange-Line, Vitobello, Antonio, Thiffault, Isabelle, Manwaring, Linda, Willing, Marcia, Agrawal, Pankaj B, Bayat, Allan, Kitzler, Thomas M, Brownstein, Catherine A, Genetti, Casie A, Gonzalez-Heydrich, Joseph, Jayakar, Parul, Zyskind, Jacob W, Zhu, Zehua, Vachet, Clemence, Wilson, Gena R, Pruniski, Brianna, Goyette, Anne-Marie, Duffourd, Yannis, Thauvin-Robinet, Christel, Philippe, Christophe, Faivre, Laurence

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Walking test outcomes in adults with genetic neuromuscular diseases: a systematic literature review of their measurement properties by HADOUIRI, Nawale, FOURNEL, Isabelle, THAUVIN-ROBINET, Christel, JACQUIN-PIQUES, Agnès, ORNETTI, Paul, GUEUGNON, Mathieu

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GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment by Zanetti, Andrea, Dujardin, Gwendal, Fares-Taie, Lucas, Amiel, Jeanne, Roger, Jérôme E., Audo, Isabelle, Robert, Matthieu P., David, Pierre, Jung, Vincent, Goudin, Nicolas, Guerrera, Ida Chiara, Moriceau, Stéphanie, Amana, Danielle, Assia Batzir, Nurit, Bachar-Zipori, Anat, Basel Salmon, Lina, Boddaert, Nathalie, Briault, Sylvain, Bruel, Ange-Line, Costet-Fighiera, Christine, Coutinho Santos, Luisa, Gitiaux, Cyril, Kaminska, Karolina, Kuentz, Paul, Orenstein, Naama, Philip-Sarles, Nicole, Plutino, Morgane, Quinodoz, Mathieu, Santos, Cristina, Sigaudy, Sabine, Soeiro e Sá, Mariana, Sofrin, Efrat, Sousa, Ana Berta, Sousa-Luis, Rui, Thauvin-Robinet, Christel, van Dijk, Erwin L., Zaafrane-Khachnaoui, Khaoula, Zur, Dinah, Kaplan, Josseline, Rivolta, Carlo, Rozet, Jean-Michel, Perrault, Isabelle

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Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling by Callier, Patrick, Calvel, Pierre, Matevossian, Armine, Makrythanasis, Periklis, Bernard, Pascal, Kurosaka, Hiroshi, Vannier, Anne, Thauvin-Robinet, Christel, Borel, Christelle, Mazaud-Guittot, Séverine, Rolland, Antoine, Desdoits-Lethimonier, Christèle, Guipponi, Michel, Zimmermann, Céline, Stévant, Isabelle, Kuhne, Françoise, Conne, Béatrice, Santoni, Federico, Lambert, Sandy, Huet, Frederic, Mugneret, Francine, Jaruzelska, Jadwiga, Faivre, Laurence, Wilhelm, Dagmar, Jégou, Bernard, Trainor, Paul A, Resh, Marilyn D, Antonarakis, Stylianos E, Nef, Serge

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Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls by Bellenguez, Céline, Charbonnier, Camille, Grenier-Boley, Benjamin, Quenez, Olivier, Le Guennec, Kilan, Nicolas, Gaël, Chauhan, Ganesh, Wallon, David, Rousseau, Stéphane, Richard, Anne Claire, Boland, Anne, Bourque, Guillaume, Munter, Hans Markus, Olaso, Robert, Meyer, Vincent, Rollin-Sillaire, Adeline, Pasquier, Florence, Letenneur, Luc, Redon, Richard, Dartigues, Jean-François, Tzourio, Christophe, Frebourg, Thierry, Lathrop, Mark, Deleuze, Jean-François, Hannequin, Didier, Genin, Emmanuelle, Amouyel, Philippe, Debette, Stéphanie, Lambert, Jean-Charles, Campion, Dominique, Hannequin, Didier, Campion, Dominique, Wallon, David, Martinaud, Olivier, Zarea, Aline, Nicolas, Gaël, Rollin-Sillaire, Adeline, Bombois, Stéphanie, Mackowiak, Marie-Anne, Deramecourt, Vincent, Pasquier, Florence, Michon, Agnès, Le Ber, Isabelle, Dubois, Bruno, Godefroy, Olivier, Etcharry-Bouyx, Frédérique, Chauviré, Valérie, Chamard, Ludivine, Berger, Eric, Magnin, Eloi, Dartigues, Jean-Francois, Auriacombe, Sophie, Tison, François, Sayette, Vincent de la, Castan, Dominique, Dionet, Elsa, Sellal, Francois, Rouaud, Olivier, Thauvin, Christel, Moreaud, Olivier, Sauvée, Mathilde, Formaglio, Maïté, Mollion, Hélène, Roullet-Solignac, Isabelle, Vighetto, Alain, Croisile, Bernard, Didic, Mira, Félician, Olivier, Koric, Lejla, Ceccaldi, Mathieu, Gabelle, Audrey, Marelli, Cecilia, Labauge, Pierre, Jonveaux, Thérèse, Vercelletto, Martine, Boutoleau-Bretonnière, Claire, Castelnovo, Giovanni, Paquet, Claire, Dumurgier, Julien, Hugon, Jacques, De Boisgueheneuc, Foucauld, Belliard, Serge, Bakchine, Serge, Sarazin, Marie, Barrellon, Marie-Odile, Laurent, Bernard, Blanc, Frédéric, Pariente, Jérémie, Jurici, Snejana

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New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay by Pilliod, Julie, Moutton, Sébastien, Lavie, Julie, Maurat, Elise, Hubert, Christophe, Bellance, Nadège, Anheim, Mathieu, Forlani, Sylvie, Mochel, Fanny, N'Guyen, Karine, Thauvin-Robinet, Christel, Verny, Christophe, Milea, Dan, Lesca, Gaëtan, Koenig, Michel, Rodriguez, Diana, Houcinat, Nada, Van-Gils, Julien, Durand, Christelle M., Guichet, Agnès, Barth, Magalie, Bonneau, Dominique, Convers, Philippe, Maillart, Elisabeth, Guyant-Marechal, Lucie, Hannequin, Didier, Fromager, Guillaume, Afenjar, Alexandra, Chantot-Bastaraud, Sandra, Valence, Stéphanie, Charles, Perrine, Berquin, Patrick, Rooryck, Caroline, Bouron, Julie, Brice, Alexis, Lacombe, Didier, Rossignol, Rodrigue, Stevanin, Giovanni, Benard, Giovanni, Burglen, Lydie, Durr, Alexandra, Goizet, Cyril, Coupry, Isabelle

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De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease by Rovelet-Lecrux, A, Charbonnier, C, Wallon, D, Nicolas, G, Seaman, M N J, Pottier, C, Breusegem, S Y, Mathur, P P, Jenardhanan, P, Le Guennec, K, Mukadam, A S, Quenez, O, Coutant, S, Rousseau, S, Richard, A-C, Boland, A, Deleuze, J-F, Frebourg, T, Hannequin, D, Campion, D

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Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases by Zurek, Birte, Ellwanger, Kornelia, Vissers, Lisenka E L M, Schüle, Rebecca, Synofzik, Matthis, Töpf, Ana, de Voer, Richarda M, Laurie, Steven, Matalonga, Leslie, Gilissen, Christian, Ossowski, Stephan, 't Hoen, Peter A C, Vitobello, Antonio, Schulze-Hentrich, Julia M, Riess, Olaf, Brunner, Han G, Brookes, Anthony J, Rath, Ana, Bonne, Gisèle, Gumus, Gulcin, Verloes, Alain, Hoogerbrugge, Nicoline, Evangelista, Teresinha, Harmuth, Tina, Swertz, Morris, Spalding, Dylan, Hoischen, Alexander, Beltran, Sergi, Graessner, Holm

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Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability by Heide, Solveig, MD, Keren, Boris, MD, PhD, Billette de Villemeur, Thierry, MD, PhD, Chantot-Bastaraud, Sandra, MD, Depienne, Christel, PhD, Nava, Caroline, MD, PhD, Mignot, Cyril, MD, PhD, Jacquette, Aurélia, MD, Fonteneau, Eric, Lejeune, Elodie, Mach, Corinne, Marey, Isabelle, MD, Whalen, Sandra, MD, Lacombe, Didier, MD, PhD, Naudion, Sophie, MD, Rooryck, Caroline, MD, PhD, Toutain, Annick, MD, PhD, Caignec, Cédric Le, MD, PhD, Haye, Damien, MD, Olivier-Faivre, Laurence, MD, PhD, Masurel-Paulet, Alice, MD, Thauvin-Robinet, Christel, MD, PhD, Lesne, Fabien, CRA, Faudet, Anne, CRA, Ville, Dorothée, MD, des Portes, Vincent, MD, PhD, Sanlaville, Damien, MD, PhD, Siffroi, Jean-Pierre, MD, PhD, Moutard, Marie-Laure, MD, Héron, Delphine, MD

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Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease by Calame, Daniel G., Guo, Tianyu, Wang, Chen, Garrett, Lillian, Jolly, Angad, Dawood, Moez, Kurolap, Alina, Henig, Noa Zunz, Fatih, Jawid M., Herman, Isabella, Du, Haowei, Mitani, Tadahiro, Becker, Lore, Rathkolb, Birgit, Gerlini, Raffaele, Seisenberger, Claudia, Marschall, Susan, Hunter, Jill V., Gerard, Amanda, Heidlebaugh, Alexis, Challman, Thomas, Spillmann, Rebecca C., Jhangiani, Shalini N., Coban-Akdemir, Zeynep, Lalani, Seema, Liu, Lingxiao, Revah-Politi, Anya, Iglesias, Alejandro, Guzman, Edwin, Baugh, Evan, Boddaert, Nathalie, Rondeau, Sophie, Ormieres, Clothide, Barcia, Giulia, Tan, Queenie K.G., Thiffault, Isabelle, Pastinen, Tomi, Sheikh, Kazim, Biliciler, Suur, Mei, Davide, Melani, Federico, Shashi, Vandana, Yaron, Yuval, Steele, Mary, Wakeling, Emma, Østergaard, Elsebet, Nazaryan-Petersen, Lusine, Millan, Francisca, Santiago-Sim, Teresa, Thevenon, Julien, Bruel, Ange-Line, Thauvin-Robinet, Christel, Popp, Denny, Platzer, Konrad, Gawlinski, Pawel, Wiszniewski, Wojciech, Marafi, Dana, Pehlivan, Davut, Posey, Jennifer E., Gibbs, Richard A., Gailus-Durner, Valerie, Guerrini, Renzo, Fuchs, Helmut, Hrabě de Angelis, Martin, Hölter, Sabine M., Cheung, Hoi-Hung, Gu, Shen, Lupski, James R.

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Multifocal Ectopic Purkinje-Related Premature Contractions: A New SCN5A-Related Cardiac Channelopathy by LAURENT, Gabriel, SAAL, Samuel, THAUVIN-ROBINET, Christel, CHARRON, Philippe, FRESSART, Véronique, MALTRET, Alice, VILLAIN, Elisabeth, BARON, Estelle, MEROT, Jean, TURPAULT, Rodolphe, COUDIERE, Yves, CHARPENTIER, Flavien, MOHAMED YASSINE AMAROUCH, SCHOTT, Jean-Jacques, LOUSSOUARN, Gildas, WILDE, Arthur A. M, WOLF, Jean-Eric, BARO, Isabelle, KYNDT, Florence, PROBST, Vincent, BEZIAU, Delphine M, MARSMAN, Roos F. J, FAIVRE, Laurence, BARC, Julien, DINA, Christian, BERTAUX, Geraldine, BARTHEZ, Olivier

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Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification by NICOLAS, Gaël, POTTIER, Cyril, MARTINAUD, Olivier, LEFAUCHEUR, Romain, GUILLIN, Olivier, WALLON, David, CHAUMETTE, Boris, RONDEPIERRE, Philippe, DERACHE, Nathalie, FROMAGER, Guillaume, SCHAEFFER, Stéphane, KRYSTKOWIAK, Pierre, CHARBONNIER, Camille, VERNY, Christophe, JURICI, Snejana, SAUVEE, Mathilde, VERIN, Marc, LEBOUVIER, Thibaud, ROUAUD, Olivier, THAUVIN-ROBINET, Christel, ROUSSEAU, Stéphane, ROVELET-LECRUX, Anne, FREBOURG, Thierry, GUYANT-MARECHAL, Lucie, CAMPION, Dominique, HANNEQUIN, Didier, LE BER, Isabelle, PARIENTE, Jérémie, LABAUGE, Pierre, AYRIGNAC, Xavier, DEFEBVRE, Luc, MALTETE, David

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SORL1 rare variants: a major risk factor for familial early-onset Alzheimer’s disease by Nicolas, G, Charbonnier, C, Wallon, D, Quenez, O, Bellenguez, C, Grenier-Boley, B, Rousseau, S, Richard, A-C, Rovelet-Lecrux, A, Le Guennec, K, Bacq, D, Garnier, J-G, Olaso, R, Boland, A, Meyer, V, Deleuze, J-F, Amouyel, P, Munter, H M, Bourque, G, Lathrop, M, Frebourg, T, Redon, R, Letenneur, L, Dartigues, J-F, Génin, E, Lambert, J-C, Hannequin, D, Campion, D

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P-45 - Subcellular redox manipulation identifies H2O2 as a key signaling molecule in cell behaviour by Thauvin, Marion, Rampon, Christine, Meda, Francesca, Queguiner, Isabelle, Dupont, Edmond, Joliot, Alain, Vriz, Sophie, Volovitch, Michel

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