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Article dans une revue A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing Anne-Sophie Denommé-Pichon, Leslie Matalonga, Elke de Boer, Adam Jackson, Elisa Benetti, Siddharth Banka, Ange-Line Bruel, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, Yannis Duffourd, Kornelia Ellwanger, Chiara Fallerini, Christian Gilissen, Holm Graessner, Tobias B Haack, Marketa Havlovicova, Alexander Hoischen, Nolwenn Jean-Marçais, Tjitske Kleefstra, Estrella López-Martín, Milan Macek, Maria Antonietta Mencarelli, Sébastien Moutton, Rolph Pfundt, Simone Pizzi, Manuel Posada, Francesca Clementina Radio, Alessandra Renieri, Caroline Rooryck, Lukas Ryba, Hana Safraou, Martin Schwarz, Marco Tartaglia, Christel Thauvin-Robinet, Julien Thevenon, Frédéric Tran Mau-Them, Aurélien Trimouille, Pavel Votypka, Bert B A de Vries, Marjolein H Willemsen, Birte Zurek, Alain Verloes, Christophe Philippe, Kristin M Abbott, Siddharth Banka, Elke de Boer, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, Anne-Sophie Denommé-Pichon, Laurence Faivre, Christian Gilissen, Tobias B Haack, Marketa Havlovicova, Alexander Hoischen, Adam Jackson, Mieke Kerstjens, Tjitske Kleefstra, Estrella López Martín, Milan Macek, Leslie Matalonga, Isabelle Maystadt, Manuela Morleo, Vicenzo Nigro, Michele Pinelli, Simone Pizzi, Manuel Posada, Francesca C Radio, Alessandra Renieri, Olaf Riess, Caroline Rooryck, Lukas Ryba, Jean-Madeleine de Sainte Agathe, Gijs W E Santen, Martin Schwarz, Marco Tartaglia, Christel Thauvin, Annalaura Torella, Aurélien Trimouille, Alain Verloes, Lisenka E L M Vissers, Antonio Vitobello, Pavel Votypka, Kristina Zguro, Elke De Boer, Enzo Cohen, Daniel Danis, Anne-Sophie Denommé-Pichon, Fei Gao, Christian Gilissen, Rita Horvath, Mridul Johari, Lennart Johanson, Shuang Li, Leslie Matalonga, Heba Morsy, Isabelle Nelson, Ida Paramonov, Iris B a W Te Paske, Peter Robinson, Marco Savarese, Wouter Steyaert, Ana Töpf, Aurélien Trimouille, Joeri K van der Velde, Jana Vandrovcova, Antonio Vitobello, Olaf Riess, Tobias B Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Marc Sturm, Julia M Schulze-Hentrich, Rebecca Schüle, Jishu Xu, Christoph Kessler, Melanie Wayand, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Ludger Schöls, Holger Hengel, Holger Lerche, Josua Kegele, Peter Heutink, Han Brunner, Hans Scheffer, Nicoline Hoogerbrugge, Alexander Hoischen, Lisenka E L M Vissers, Christian Gilissen, Wouter Steyaert, Karolis Sablauskas, Richarda M de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris Te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldiz, Tjitske Kleefstra, Anthony J Brookes, Colin Veal, Spencer Gibson, Vatsalya Maddi, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Ana Töpf, Volker Straub, Chiara Marini Bettolo, Jordi Diaz Manera, Sophie Hambleton, Karin Engelhardt, Jill Clayton-Smith, Siddharth Banka, Elizabeth Alexander, Adam Jackson, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Ange-Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltran, Ivo Glynne Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvo, Marcos Fernandez-Callejo, Carles Hernández, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros-Facer, Ana Rath, Marc Hanauer, David Lagorce, Oscar Hongnat, Maroua Chahdil, Emeline Lebreton, Giovanni Stevanin, Alexandra Durr, Claire-Sophie Davoine, Léna Guillot-Noel, Anna Heinzmann, Giulia Coarelli, Gisèle Bonne, Teresinha Evangelista, Valérie Allamand, Isabelle Nelson, Rabah Ben Yaou, Corinne Metay, Bruno Eymard, Enzo Cohen, Antonio Atalaia, Tanya Stojkovic, Milan Macek, Marek Turnovec, Dana Thomasová, Radka Pourová Kremliková, Vera Franková, Markéta Havlovicová, Petra Lišková, Pavla Doležalová, Helen Parkinson, Thomas Keane, Mallory Freeberg, Coline Thomas, Dylan Spalding, Peter Robinson, Daniel Danis, Glenn Robert, Alessia Costa, Christine Patch, Mike Hanna, Henry Houlden, Mary Reilly, Jana Vandrovcova, Stephanie Efthymiou, Heba Morsy, Elisa Cali, Francesca Magrinelli, Sanjay M Sisodiya, Jonathan Rohrer, Francesco Muntoni, Irina Zaharieva, Anna Sarkozy, Vincent Timmerman, Jonathan Baets, Geert de Vries, Jonathan de Winter, Danique Beijer, Peter de Jonghe, Liedewei van de Vondel, Willem de Ridder, Sarah Weckhuysen, Vincenzo Nigro, Margherita Mutarelli, Manuela Morleo, Michele Pinelli, Alessandra Varavallo, Sandro Banfi, Annalaura Torella, Francesco Musacchia, Giulio Piluso, Alessandra Ferlini, Rita Selvatici, Francesca Gualandi, Stefania Bigoni, Rachele Rossi, Marcella Neri, Stefan Aretz, Isabel Spier, Anna Katharina Sommer, Sophia Peters, Carla Oliveira, Jose Garcia Pelaez, Ana Rita Matos, Celina São José, Marta Ferreira, Irene Gullo, Susana Fernandes, Luzia Garrido, Pedro Ferreira, Fátima Carneiro, Morris A Swertz, Lennart Johansson, Joeri K van der Velde, Gerben van der Vries, Pieter B Neerincx, David Ruvolo, Kristin M Abbott, Wilhemina S Kerstjens Frederikse, Eveline Zonneveld-Huijssoon, Dieuwke Roelofs-Prins, Marielle van Gijn, Sebastian Köhler, Alison Metcalfe, Alain Verloes, Séverine Drunat, Delphine Heron, Cyril Mignot, Boris Keren, Jean-Madeleine de Sainte Agathe, Caroline Rooryck, Didier Lacombe, Aurelien Trimouille, Gabriel Capella, Laura Valle, Elke Holinski-Feder, Andreas Laner, Verena Steinke-Lange, Maria-Roberta Cilio, Evelina Carpancea, Chantal Depondt, Damien Lederer, Yves Sznajer, Sarah Duerinckx, Sandrine Mary, Alfons Macaya, Ana Cazurro-Gutiérrez, Belén Pérez-Dueñas, Francina Munell, Clara Franco Jarava, Laura Batlle Masó, Anna Marcé-Grau, Roger Colobran, Peter Hackman, Mridul Johari, Marco Savarese, Bjarne Udd, Dimitri Hemelsoet, Bart Dermaut, Nika Schuermans, Bruce Poppe, Hannah Verdin, Andrés Nascimento Osorio, Christel Depienne, Andreas Roos, Isabelle Maystadt, Isabell Cordts, Marcus Deschauer, Pasquale Striano, Federico Zara, Antonella Riva, Michele Iacomino, Paolo Uva, Marcello Scala, Paolo Scudieri, Ayşe Nazlı Başak, Kristl Claeys, Kaan Boztug, Matthias Haimel, Gijs W.E, Claudia a L Ruivenkamp, Daniel Natera de Benito, Hanns Lochmüller, Rachel Thompson, Kiran Polavarapu, Bodo Grimbacher, Ioannis Zaganas, Evgenia Kokosali, Mathioudakis Lambros, Athanasios Evangeliou, Martha Spilioti, Elisabeth Kapaki, Mara Bourbouli, Andrea Ciolfi, Bruno Dallapiccola, Simone Pizzi, Francesca Clementina Radio, Marco Tartaglia, Peter Balicza, Maria Judit Molnar, Manuel Posada de la Paz, Eva Bermejo Sánchez, Estrella López Martín, Beatriz Martínez Delgado, F Javier Alonso García de la Rosa, Evelin Schröck, Andreas Rump, Davide Mei, Annalisa Vetro, Simona Balestrini, Renzo Guerrini, Rita Horvath, Patrick F Chinnery, Thiloka Ratnaike, Fei Gao, Katherine Schon, Ales Maver, Borut Peterlin, Alexander Münchau, Katja Lohmann, Rebecca Herzog, Martje Pauly, Patrick May, David Beeson, Judith Cossins, Alessandra Renieri, Simone Furini, Chiara Fallerini, Elisa Benetti, Alexandra Afenjar, Alice Goldenberg, Alice Masurel, Alice Phan, Anne Dieux-Coeslier, Anne Fargeot, Anne-Marie Guerrot, Annick Toutain, Arnaud Molin, Arthur Sorlin, Audrey Putoux, Béatrice Jouret, Béatrice Laudier, Bénédicte Demeer, Bérénice Doray, Bertille Bonniaud, Bertrand Isidor, Brigitte Gilbert-Dussardier, Bruno Leheup, Bruno Reversade, Carle Paul, Catherine Vincent-Delorme, Cecilia Neiva, Céline Poirsier, Chloé Quélin, Christine Chiaverini, Christine Coubes, Christine Francannet, Cindy Colson, Claire Desplantes, Constance Wells, Cyril Goizet, Damien Lederer, Damien Sanlaville, Daniel Amram, Daphné Lehalle, David Geneviève, Delphine Heron, Didier Lacombe, Dominique Gaillard, Einat Zivi, Elisabeth Sarrazin, Elisabeth Steichen, Élise Schaefer, Elodie Lacaze, Emmanuel Jacquemin, Ernie Bongers, Esra Kilic, Estelle Colin, Fabienne Giuliano, Fabienne Prieur, Fanny Laffargue, Fanny Morice-Picard, Florence Petit, François Cartault, François Feillet, Geneviève Baujat, Gilles Morin, Gwenaëlle Diene, Hubert Journel, Isabelle Maystadt, Isabelle Perthus, James Lespinasse, Jean-Luc Alessandri, Jeanne Amiel, Jelena Martinovic, Julian Delanne, Juliette Albuisson, Laëtitia Lambert, Laurence Perrin, Lilian Bomme Ousager, Lionel Van Maldergem, Lucile Pinson, Lyse Ruaud, Mahtab Samimi, Marie Bournez, Marie Noëlle Bonnet-Dupeyron, Marie Vincent, Marie-Line Jacquemont, Marie-Pierre Cordier-Alex, Marion Gérard-Blanluet, Marjolaine Willems, Marta Spodenkiewicz, Martine Doco-Fenzy, Massimiliano Rossi, Mathilde Renaud, Mélanie Fradin, Michèle Mathieu, Muriel H Holder-Espinasse, Nada Houcinat, Nadine Hanna, Nathalie Leperrier, Nicolas Chassaing, Nicole Philip, Odile Boute, Philippe Khau van Kien, Philippe Parent, Pierre Bitoun, Pierre Sarda, Pierre Vabres, Pierre-Simon Jouk, Renaud Touraine, Salima El Chehadeh, Sandra Whalen, Sandrine Marlin, Sandrine Passemard, Sarah Grotto, Séverine Audebert Bellanger, Sophie Blesson, Sophie Nambot, Sophie Naudion, Stanislas Lyonnet, Sylvie Odent, Tania Attie-Bitach, Tiffany Busa, Valérie Drouin-Garraud, Valérie Layet, Varoona Bizaoui, Véronica Cusin, Yline Capri, Yves Alembik, Antonio Vitobello, Lisenka E L M Vissers, Laurence Faivre

Genetics in Medicine, 2023, 25 (4), pp.100018. ⟨10.1016/j.gim.2023.100018⟩. ⟨hal-05290572⟩