Psychiatric disorders among patients admitted to a French medical emergency service von 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 von 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 von 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? von 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 von Lejoyeux, Michel, Kerner, Laurent, Thauvin, Isabelle, Loi, Sabrina

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High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease von Pottier, C, Hannequin, D, Coutant, S, Rovelet-Lecrux, A, Wallon, D, Rousseau, S, Legallic, S, Paquet, C, Bombois, S, Pariente, J, Thomas-Anterion, C, Michon, A, Croisile, B, Etcharry-Bouyx, F, Berr, C, Dartigues, J-F, Amouyel, P, Dauchel, H, Boutoleau-Bretonnière, C, Thauvin, C, Frebourg, T, Lambert, J-C, Campion, D

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SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlations von Millecamps, Stéphanie, Salachas, François, Cazeneuve, Cécile, Gordon, Paul, Bricka, Bernard, Camuzat, Agnès, Guillot-Noël, Léna, Russaouen, Odile, Bruneteau, Gaëlle, Pradat, Pierre-François, Le Forestier, Nadine, Vandenberghe, Nadia, Danel-Brunaud, Véronique, Guy, Nathalie, Thauvin-Robinet, Christel, Lacomblez, Lucette, Couratier, Philippe, Hannequin, Didier, Seilhean, Danielle, Le Ber, Isabelle, Corcia, Philippe, Camu, William, Brice, Alexis, Rouleau, Guy, LeGuern, Eric, Meininger, Vincent

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Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy von 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 von 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 von 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 von 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 von 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 von 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 von 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 von 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 von 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 von 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 von 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 von 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 von 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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