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Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study

Title: Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study
Authors: El Chehadeh, SalimaAff1, Aff2; Heide, SolveigAff3; Quélin, ChloéAff4; Rio, MarlèneAff5, Aff6; Margot, HenriAff7, Aff8; Geneviève, DavidAff9, Aff10; Isidor, BertrandAff11, Aff12; Goldenberg, AliceAff13, Aff14; Guégan, CarolineAff13, Aff14; Lesca, GaëtanAff15, Aff16; Willems, MarjolaineAff9, Aff10; Ormières, ClothildeAff5, Aff6; Caumes, RoselineAff17; Busa, TiffanyAff18; Bonneau, DominiqueAff19; Guerrot, Anne-MarieAff13, Aff14; Marey, IsabelleAff20, Aff21; Vera, GabriellaAff13, Aff14; Marzin, PaulineAff5, Aff6; Philippe, AnaïsAff1; Garde, AuroreAff22, Aff23; Coubes, ChristineAff10; Vincent, MarieAff11; Michaud, VincentAff7, Aff8; Mignot, CyrilAff3, Aff24; Charles, PerrineAff3; Sigaudy, SabineAff18; Edery, PatrickAff15; Lacombe, DidierAff7, Aff8; Boland, AnneAff25; Nowak, FrédériqueAff26; Bouctot, MarionAff27; Humbert-Asensio, Marie-LaureAff27; Simon, AlbanAff2; Chennen, KirsleyAff2; Sabour, NikiAff27; Delmas, ChristelleAff28; Nicolas, GaëlAff13, Aff14; Saugier-Veber, PascaleAff13, Aff14; Lecoquierre, FrançoisAff13, Aff14; Cassinari, KévinAff13, Aff14; Keren, BorisAff29; Courtin, ThomasAff29; De Sainte Agathe, Jean-MadeleineAff29; Malan, ValérieAff5, Aff6; Barcia, GiuliaAff5, Aff6; Tran Mau-Them, FrédéricAff23, Aff30; Safraou, HanaAff23, Aff30; Philippe, ChristopheAff23, Aff30; Thévenon, JulienAff20, Aff21; Chatron, NicolasAff15, Aff16; Januel, LouisAff15; Piton, AmélieAff31, Aff32; Haushalter, VirginieAff31; Gérard, BénédicteAff31; Lejeune, CatherineAff27, Aff33; Faivre, LaurenceAff22, Aff23; Sanlaville, DamienAff15, Aff16; Héron, DelphineAff3, Aff24; Odent, SylvieAff4, Aff34; Nitschké, PatrickAff6; Schluth-Bolard, CarolineAff2, Aff31; Lyonnet, StanislasAff5, Aff6; Deleuze, Jean-FrançoisAff25; Binquet, ChristineAff27; Dollfus, HélèneAff1, Aff2, IDs13073025015274_cor1; Barth, Magalie; Colin, Estelle; Halleb, Yosra; Houdayer, Clara; Prouteau, Clément; Tessarech, Marine; Ziegler, Alban; Angelini, Chloé; Baudier, Marie-Pierre; Britel, Meryem; Bronnec, Noémie; Deiber, Clémence; Dorian, Virginie; Gaudry, Juliette; Goizet, Cyril; Hairech, Nawel; Hasnaoui, Ouidad; Laurent, Manon; Legendre, Marine; Naudion, Sophie; Ngom, Ndeye-Fatou; Thambo, Caroline Rooryck; Van Gils, Julien; Zordan, Cécile; Borel, Myriam; Briffaut, Anne-Sophie; Viard, Charley Robert; Bacq-Daian, Delphine; Besse, Celine; Fin, Bertrand; Meyer, Vincent; Moutet, Marie-Laure; Olaso, Robert; Sandron, Florian; Turon, Violette; Bernard, Celine; Bournez, Marie; Bruel, Ange-Line; Viora-Dupont, Eleonore; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Duquet, Romain; Espitalier, Aurelie; Fauconnier-Fatus, Clemence; Nambot, Sophie; Petiot, Aurore; Pillay, Victor; Poe, Charlotte; Soto, Melodie; Thauvin, Christel; Tharreau, Mylene; Vitobello, Antonio; Gauthier, Marjolaine; Nguyen Morel, Marie-Ange; Nugues, Frederique; Wyrebski, Antoine; Dieterich, Klaus; Le Tanno, Pauline; Bellengier, Laurence; Boute, Odile; Colson, Cindy; Dieux, Anne; Ghoumid, Jamal; Marsili, Luisa; Petit, Florence; Rubeck, Coralie; Vanlerberghe, Clemence; Vincent-Delorme, Catherine; Rougeot-Jung, Christelle; Curie, Aurore; des Portes, Vincent; Goutte, Sylvie; Haye, Damien; Labalme, Audrey; Monin, Pauline; Till, Marianne; Armand, Thibaud; Reversat, Julie; Robert, Françoise; Berthiot, Amelie; Colard, Marion; El Amrani-El Idrissi, Lamia; Francois, Tiphaine; George, Haymanot; Saidi, Manel; Rendja, Karima; Triguel, Iracema; Bardel, Claire; Rollat-Farnier, Pierre Antoine; Putoux, Audrey; Rossi, Massimiliano; Pons, Linda; Consolino, Emilie; Glazunova, Olga; Mallet, Audrey; Philip-Sarles, Nicole; Riccardi, Florence; Seror, Valerie; Beltram, Severine; Cerret, Florent; Crantelle, Laura; Khalil, Mirna; Blanchet, Patricia; Deiller, Caroline; Haquet, Emmanuelle; Pinson, Lucile; Wells, Constance; Guillemin, Francis; Conrad, Solene; Guyon, Laura; Mercier, Sandra; Nizon, Mathilde; Voisine, Annastasia; Abdallah, Kahina; Amiel, Jeanne; Baujat, Genevieve; Bhia, Wiam; Bonnefont, Jean-Paul; Cormier-Daire, Valerie; De Nadai, Narimene; Florentino, Valeria; Gouvenot, Kelly; Guimier, Anne; Abdallah, Hamza Hadj; Jeannette, Jerome; Marlin, Sandrine; Masson, Cecile; Michot, Caroline; Peroni, Lea; Romana, Serge; Afenjar, Alexandra; Burglen, Lydie; Whalen, Sandra; Buratti, Julien; Leguern, Eric; Faudet, Anne; Gerasimenko, Anna; Moukossi-Mouelle, Caroline; Mouthon, Linda; Pellen, Anne-Sophie; Staraci, Stephanie; Lehalle, Daphne; Esperou, Helene; Le Mestre, Soizic; Levy-Marchal, Claire; Carre, Wilfrid; De Tayrac, Marie; Dubourg, Christele; Fournier, Chloé; Akloul, Linda; Fradin, Melanie; Jean-Marcais, Nolwenn; Lavillaureix, Alinoë; Morel, Godelieve; Pasquier, Laurent; Poirel, Elisabeth; Riou, Audrey; Rollier, Paul; Brehin, Anne-Claire; Chambon, Pascal; Gonde, Delphine; Joly-Helas, Geraldine; Calmels, Nadege; Cuny, Celine; Feger, Claire; Durand, Benjamin; Goetz, Nathalie; Maillard, Pierre-Yves; Monduc, Sophie; Schaefer, Elise; Scheidecker, Sophie; Muller, Jean; Piton, Amelie
Source: Genome Medicine. 17(1)
Database: Springer Nature Journals