Heterozygous HMGB1 loss‐of‐function variants are associated with developmental delay and microcephaly by Uguen, Kévin, Krysiak, Kilannin, Audebert‐Bellanger, Séverine, Redon, Sylvia, Benech, Caroline, Viora‐Dupont, Eléonore, Tran Mau‐Them, Frederic, Rondeau, Sophie, Elsharkawi, Ibrahim, Granadillo, Jorge L., Neidich, Julie, Soares, Celia Azevedo, Tkachenko, Natáliya, M. Amudhavalli, Shivarajan, Engleman, Kendra, Boland, Anne, Deleuze, Jean‐François, Bezieau, Stéphane, Odent, Sylvie, Toutain, Annick, Bonneau, Dominique, Gilbert‐Dussardier, Brigitte, Faivre, Laurence, Rio, Marlène, Le Marechal, Cedric, Ferec, Claude, Repnikova, Elena, Cao, Yang

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Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array‐... by Tisserant, Emilie, Vitobello, Antonio, Callegarin, Davide, Verdez, Simon, Bruel, Ange‐line, Aho Glele, Ludwig Serge, Sorlin, Arthur, Viora‐Dupont, Eleonore, Konyukh, Marina, Marle, Nathalie, Nambot, Sophie, Moutton, Sébastien, Racine, Caroline, Garde, Aurore, Delanne, Julian, Tran‐Mau‐Them, Frédéric, Philippe, Christophe, Kuentz, Paul, Poulleau, Marlène, Payet, Muriel, Poe, Charlotte, Thauvin‐Robinet, Christel, Faivre, Laurence, Mosca‐Boidron, Anne‐Laure, Thevenon, Julien, Duffourd, Yannis, Callier, Patrick

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The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant by Aerden, Mio, Denommé-Pichon, Anne-Sophie, Bonneau, Dominique, Bruel, Ange-Line, Delanne, Julian, Gérard, Bénédicte, Mazel, Benoît, Philippe, Christophe, Pinson, Lucile, Prouteau, Clément, Putoux, Audrey, Tran Mau-Them, Frédéric, Viora-Dupont, Éléonore, Vitobello, Antonio, Ziegler, Alban, Piton, Amélie, Isidor, Bertrand, Francannet, Christine, Maillard, Pierre-Yves, Julia, Sophie, Philippe, Anais, Schaefer, Elise, Koene, Saskia, Ruivenkamp, Claudia, Hoffer, Mariette, Legius, Eric, Theunis, Miel, Keren, Boris, Buratti, Julien, Charles, Perrine, Courtin, Thomas, Misra-Isrie, Mala, van Haelst, Mieke, Waisfisz, Quinten, Wieczorek, Dagmar, Schmetz, Ariane, Herget, Theresia, Kortüm, Fanny, Lisfeld, Jasmin, Debray, François-Guillaume, Bramswig, Nuria C, Atallah, Isis, Fodstad, Heidi, Jouret, Guillaume, Almoguera, Berta, Tahsin-Swafiri, Saoud, Santos-Simarro, Fernando, Palomares-Bralo, Maria, López-González, Vanesa, Kibaek, Maria, Tørring, Pernille M, Renieri, Alessandra, Bruno, Lucia Pia, Õunap, Katrin, Wojcik, Monica, Hsieh, Tzung-Chien, Krawitz, Peter, Van Esch, Hilde

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Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study) by Viora-Dupont, Eléonore, Robert, Françoise, Chassagne, Aline, Pélissier, Aurore, Staraci, Stéphanie, Sanlaville, Damien, Edery, Patrick, Lesca, Gaetan, Putoux, Audrey, Pons, Linda, Cadenes, Amandine, Baurand, Amandine, Sawka, Caroline, Bertolone, Geoffrey, Spetchian, Myrtille, Yousfi, Meriem, Salvi, Dominique, Gautier, Elodie, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Bruel, Ange-Line, Tran Mau-Them, Frédéric, Faudet, Anne, Keren, Boris, Labalme, Audrey, Chatron, Nicolas, Abel, Carine, Dupuis-Girod, Sophie, Poisson, Alice, Buratti, Julien, Mignot, Cyril, Afenjar, Alexandra, Whalen, Sandra, Charles, Perrine, Heide, Solveig, Mouthon, Linda, Moutton, Sébastien, Sorlin, Arthur, Nambot, Sophie, Briffaut, Anne-Sophie, Asensio, Marie-Laure, Philippe, Christophe, Thauvin-Robinet, Christel, Héron, Delphine, Rossi, Massimiliano, Meunier-Bellard, Nicolas, Gargiulo, Marcela, Peyron, Christine, Binquet, Christine, Faivre, Laurence

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