Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

2024 . Demidov, German | YALDIZ, BURCU | García-Peláez, José | de Boer, Elke | Schuermans, Nika | Van de Vondel, Liedewei | Paramonov, Ida | Johansson, Lennart | Musacchia, Francesco | Benetti, Elisa | Bullich Vilanova, Gemma | Sablauskas, Karolis | Beltran, Sergi | Gilissen, Christian | Hoischen, Alexander | Ossowski, Stephan | de Voer, Richarda M | Lohmann, Katja | Oliveira, Carla | Topf, Ana | Vissers, Lisenka E. L. M. | Solve-RD Consortium | Riess, Olaf | Haack, Tobias B. | Graessner, Holm | Zurek, Birte | Ellwanger, Kornelia | Sturm, Marc | Park, Joohyun | Schütz, Leon | Schulze-Hentrich, Julia M. | Schüle, Rebecca | Xu, Jishu | Kellner, Melanie | Resch, Baptist | Kolen, Ingrid | Synofzik, Matthis | Wilke, Carlo | Traschütz, Andreas | Beijer, Danique | Heutink, Peter | Schöls, Ludger | Hengel, Holger | Lerche, Holger | Boßelmann, Christian | Kegele, Josua | Lauerer-Braun, Robert | Lauxmann, Stephan | Brunner, Han | Scheffer, Hans | Hoogerbrugge, Nicoline | ’t Hoen, Peter A. C. | Steyaert, Wouter | de Voer, Richarda | Kamsteeg, Erik-Jan | van de Warrenburg, Bart | van Os, Nienke | Paske, Iris te | Janssen, Erik | de Boer, Elke | Steehouwer, Marloes | Neveling, Kornelia | van der Sanden, Bart | Sagath, Lydia | Kleefstra, Tjitske | Brookes, Anthony J. | Gibson, Spencer | Riaz, Umar | Warren, Greg | Nalagandla, Sai Anuhya | Wang, Yunze Patrick | Sukumaran, Deepthi | Abadijou, Sadegh | Straub, Volker | Bettolo, Chiara Marini | Manera, Jordi Diaz | Hambleton, Sophie | Engelhardt, Karin | Clayton-Smith, Jill | Banka, Siddharth | Alexander, Elizabeth | Jackson, Adam | Faivre, Laurence | Thauvin, Christel | Vitobello, Antonio | Denommé-Pichon, Anne-Sophie | Duffourd, Yannis | Bruel, Ange-Line | Couturier, Victor | Gut, Ivo Glynne | Piscia, Davide | Matalonga, Leslie | Papakonstantinou, Anastasios | Corvo, Alberto | Fernandez-Callejo, Marcos | Hernández, Carles | Picó, Daniel | Codina, Anna Esteve | Dabad, Marc | Gut, Marta | Raineri, Emanuele | Gumus, Gulcin | Bros-Facer, Virginie | Rath, Ana | Hanauer, Marc | Lagorce, David | Hongnat, Oscar | Chahdil, Maroua | Lucano, Caterina | Lebreton, Emeline | Stevanin, Giovanni | Durr, Alexandra | Davoine, Claire-Sophie | Guillot-Noel, Léna | Heinzmann, Anna | Coarelli, Giulia | Bonne, Gisèle | Evangelista, Teresinha | Allamand, Valérie | Nelson, Isabelle | Ben Yaou, Rabah | Metay, Corinne | Eymard, Bruno | Cohen, Enzo | Atalaia, Antonio | Stojkovic, Tanya | Macek, Milan | Turnovec, Marek | Thomasová, Dana | Kremliková, Radka Pourová | Franková, Vera | Havlovicová, Markéta | Ryba, Lukáš | Lišková, Petra | Doležalová, Pavla | Krebsová, Alice | Parkinson, Helen | Keane, Thomas | Freeberg, Mallory | Thomas, Coline | Spalding, Dylan | Robinson, Peter | Danis, Daniel | Robert, Glenn | Costa, Alessia | Hanna, Mike | Houlden, Henry | Reilly, Mary | Vandrovcova, Jana | Efthymiou, Stephanie | Morsy, Heba | Cali, Elisa | Magrinelli, Francesca | Sisodiya, Sanjay M. | Bellampalli, Ravishankara | Moloney, Patrick | Rohrer, Jonathan | Muntoni, Francesco | Zaharieva, Irina | Sarkozy, Anna | Perry, Luke | Pini, Veronica | Müller, Juliane | Timmerman, Vincent | Baets, Jonathan | de Vries, Geert | De Winter, Jonathan | de Jonghe, Peter | Van de Vondel, Liedewei | De Ridder, Willem | Weckhuysen, Sarah | Stamberger, Hannah | Millevert, Charissa | Smal, Noor | Nigro, Vincenzo | Morleo, Manuela | Pinelli, Michele | Banfi, Sandro | Torella, Annalaura | Zeuli, Roberta | Zanobio, Mariateresa | Piluso, Giulio | Ferlini, Alessandra | Selvatici, Rita | Gualandi, Francesca | Bigoni, Stefania | Neri, Marcella | Aretz, Stefan | Spier, Isabel | Sommer, Anna Katharina | Peters, Sophia | Barbosa-Matos, Rita | José, Celina São | Ferreira, Marta | Gullo, Irene | Fernandes, Susana | Garrido, Luzia | Ferreira, Pedro | Carneiro, Fátima | Swertz, Morris A. | van der Velde, Joeri K. | van der Vries, Gerben | Neerincx, Pieter B. | Roelofs-Prins, Dieuwke | Ruvolo, David | van Gijn, Marielle | Abbott, Kristin M. | Kerstjens Frederikse, Wilhemina S. | Zonneveld-Huijssoon, Eveline | Köhler, Sebastian | Metcalfe, Alison | Moore, Richard | Verloes, Alain | Drunat, Séverine | Heron, Delphine | Mignot, Cyril | Keren, Boris | de Sainte Agathe, Jean-Madeleine | Jamra, Rami Abou | Abramowicz, Marc | Kiliçarslan, Özge Aksel | Allen, Nicholas | Javier Alonso García de la Rosa, Francisco | Balestrini, Simona | Balicza, Peter | Bartolomaeus, Tobias | Başak, Ayşe Nazl | Masó, Laura Batlle | Beeson, David | Benoit, Valerie | Benson, Katherine | Sánchez, Eva Bermejo | Bijlsma, Emilia K. | Bogaert, Elke | Bourbouli, Mara | Boztug, Kaan | Brohée, Sylvain | Byrne, Susan | Garcia de Oteyza, Andrés Caballero | Capella, Gabriel | Carpancea, Evelina | Cavalleri, Gianpiero | Cazurro-Gutiérrez, Ana | Chinnery, Patrick F. | Cilio, Maria-Roberta | Ciolfi, Andrea | Claeys, Kristl | Colobran, Roger | Cordts, Isabell | Cossins, Judith | Dahan, Karin | Dallapiccola, Bruno | Delanty, Norman | Depienne, Christel | Depondt, Chantal | Dermaut, Bart | Deschauer, Marcus | Desir, Julie | Destrée, Anne | Drakos, Minas | Duerinckx, Sarah | Estevez, Berta | Evangeliou, Athanasios | Fallerini, Chiara | Ferilli, Marco | Furini, Simone | Gagneur, Julien | Ghani, Hamidah | Greally, Marie | Grimbacher, Bodo | Guerrini, Renzo | Hackman, Peter | Haimel, Matthias | Bouveret, Eva Hammar | Hemelsoet, Dimitri | Herzog, Rebecca | Hoffer, Mariette J. V. | Holinski-Feder, Elke | Horvath, Rita | Huibers, Manon | Iacomino, Michele | Johari, Mridul | Kapaki, Elisabeth | Karadurmus, Deniz | Karakaya, Mert | Kokosali, Evgenia | Korff, Christian | Krass, Leon | Lacombe, Didier | Laner, Andreas | Leavis, Helen | Lederer, Damien | Leitão, Elsa | Lochmüller, Hanns | Martín, Estrella López | Luknárová, Rebeka | Macaya, Alfons | Malaichamy, Sivasankar | Marcé-Grau, Anna | Delgado, Beatriz Martínez | Mary, Sandrine | Masclaux, Frédéric | Mathioudakis, Lambros | Maver, Ales | May, Patrick | Maystadt, Isabelle | Mei, Davide | Mertes, Christian | Meunier, Colombine | Molnar, Maria Judit | Monestier, Olivier | Moortgat, Stéphanie | Münchau, Alexander | Munell, Francina | Osorio, Andrés Nascimento | de Benito, Daniel Natera | Reghan, Mary O. | Olimpio, Catarina | Parrini, Elena | Pauly, Martje | Pérez-Dueñas, Belén | Peterlin, Borut | Platzer, Konrad | Polavarapu, Kiran | Poppe, Bruce | De la Paz, Manuel Posada | Privitera, Flavia | Radio, Francesca Clementina | Ratnaike, Thiloka | Renieri, Alessandra | Riva, Antonella | Rooryck, Caroline | Roos, Andreas | Ruivenkamp, Claudia A. L. | Rump, Andreas | Santen, Gijs W. E. | Savarese, Marco | Scala, Marcello | Schon, Katherine | Schröck, Evelin | Scudieri, Paolo | Spilioti, Martha | Steinke-Lange, Verena | Striano, Pasquale | Sznajer, Yves | Tartaglia, Marco | Thompson, Rachel | Trimouille, Aurelien | Udd, Bjarne | Uva, Paolo | Valle, Laura | van der Veken, Lars | van Heurck, Roxane | van Montfrans, Joris | Van Nieuwenhove, Erika | Verdin, Hannah | Webb, David | Wirth, Brunhilde | Yépez, Vicente A. | Zaganas, Ioannis | Zara, Federico | Zguro, Kristina | Laurie, Steven