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    A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing by Banka, Siddharth, Ciolfi, Andrea, Dallapiccola, Bruno, Gilissen, Christian, López-Martín, Estrella, Ryba, Lukas, Tartaglia, Marco, Thevenon, Julien, Tran Mau-Them, Frédéric, Votypka, Pavel, Faivre, Laurence, Gilissen, Christian, Jackson, Adam, Kleefstra, Tjitske, Santen, Gijs W.E., Verloes, Alain, Votypka, Pavel, Gao, Fei, Johari, Mridul, Morsy, Heba, Robinson, Peter, Zurek, Birte, Kegele, Josua, Scheffer, Hans, van de Warrenburg, Bart, Steehouwer, Marloes, Maddi, Vatsalya, Riaz, Umar, Dizjikan, Farid Yavari, Straub, Volker, Papakonstantinou, Anastasios, Corvo, Alberto, Fernandez-Callejo, Marcos, Gumus, Gulcin, Lagorce, David, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Evangelista, Teresinha, Metay, Corinne, Eymard, Bruno, Thomas, Coline, Spalding, Dylan, Magrinelli, Francesca, Sisodiya, Sanjay M., Zaharieva, Irina, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Piluso, Giulio, Rossi, Rachele, Matos, Ana Rita, Gullo, Irene, Fernandes, Susana, Zonneveld-Huijssoon, Eveline, van Gijn, Marielle, Mignot, Cyril, Lacombe, Didier, Holinski-Feder, Elke, Cilio, Maria-Roberta, Depondt, Chantal, Lederer, Damien, Mary, Sandrine, Pérez-Dueñas, Belén, Masó, Laura Batlle, Hemelsoet, Dimitri, Depienne, Christel, Iacomino, Michele, Scala, Marcello, Bourbouli, Mara, Radio, Francesca Clementina, De la Paz, Manuel Posada, Alonso García de la Rosa, F. Javier, Guerrini, Renzo, Chinnery, Patrick F., Schon, Katherine, Münchau, Alexander, Pauly, Martje, Toutain, Annick, Molin, Arnaud, Jouret, Béatrice, Laudier, Béatrice, Bonniaud, Bertille, Paul, Carle, Schaefer, Élise, Colin, Estelle, Prieur, Fabienne, Alessandri, Jean-Luc, Martinovic, Jelena, Lambert, Laëtitia, Bournez, Marie, Cordier-Alex, Marie-Pierre, Fradin, Mélanie, Hanna, Nadine, Chassaing, Nicolas, Naudion, Sophie, Cusin, Véronica

    Published in Genetics in medicine
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