A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
-
Published:2023-04
Issue:4
Volume:25
Page:100018
-
ISSN:1098-3600
-
Container-title:Genetics in Medicine
-
language:en
-
Short-container-title:Genetics in Medicine
Author:
Denommé-Pichon Anne-SophieORCID, Matalonga Leslie, de Boer Elke, Jackson Adam, Benetti Elisa, Banka Siddharth, Bruel Ange-Line, Ciolfi Andrea, Clayton-Smith Jill, Dallapiccola Bruno, Duffourd Yannis, Ellwanger Kornelia, Fallerini Chiara, Gilissen Christian, Graessner Holm, Haack Tobias B., Havlovicova Marketa, Hoischen Alexander, Jean-Marçais Nolwenn, Kleefstra Tjitske, López-Martín Estrella, Macek Milan, Mencarelli Maria Antonietta, Moutton Sébastien, Pfundt Rolph, Pizzi Simone, Posada Manuel, Radio Francesca Clementina, Renieri Alessandra, Rooryck Caroline, Ryba Lukas, Safraou Hana, Schwarz Martin, Tartaglia Marco, Thauvin-Robinet Christel, Thevenon Julien, Tran Mau-Them Frédéric, Trimouille Aurélien, Votypka Pavel, de Vries Bert B.A., Willemsen Marjolein H., Zurek Birte, Verloes Alain, Philippe Christophe, Vitobello Antonio, Vissers Lisenka E.L.M., Faivre Laurence, Abbott Kristin M., Banka Siddharth, de Boer Elke, Ciolfi Andrea, Clayton-Smith Jill, Dallapiccola Bruno, Denommé-Pichon Anne-Sophie, Faivre Laurence, Gilissen Christian, Haack Tobias B., Havlovicova Marketa, Hoischen Alexander, Jackson Adam, Kerstjens Mieke, Kleefstra Tjitske, Martín Estrella López, Macek Milan, Matalonga Leslie, Maystadt Isabelle, Morleo Manuela, Nigro Vicenzo, Pinelli Michele, Pizzi Simone, Posada Manuel, Radio Francesca C., Renieri Alessandra, Riess Olaf, Rooryck Caroline, Ryba Lukas, Agathe Jean-Madeleine de Sainte, Santen Gijs W.E., Schwarz Martin, Tartaglia Marco, Thauvin Christel, Torella Annalaura, Trimouille Aurélien, Verloes Alain, Vissers Lisenka, Vitobello Antonio, Votypka Pavel, Zguro Kristina, Boer Elke de, Cohen Enzo, Danis Daniel, Denommé-Pichon Anne-Sophie, Gao Fei, Gilissen Christian, Horvath Rita, Johari Mridul, Johanson Lennart, Li Shuang, Matalonga Leslie, Morsy Heba, Nelson Isabelle, Paramonov Ida, te Paske Iris B.A.W., Robinson Peter, Savarese Marco, Steyaert Wouter, Töpf Ana, Trimouille Aurélien, van der Velde Joeri K., Vandrovcova Jana, Vitobello Antonio, Riess Olaf, Haack Tobias B., Graessner Holm, Zurek Birte, Ellwanger Kornelia, Ossowski Stephan, Demidov German, Sturm Marc, Schulze-Hentrich Julia M., Schüle Rebecca, Xu Jishu, Kessler Christoph, Wayand Melanie, Synofzik Matthis, Wilke Carlo, Traschütz Andreas, Schöls Ludger, Hengel Holger, Lerche Holger, Kegele Josua, Heutink Peter, Brunner Han, Scheffer Hans, Hoogerbrugge Nicoline, Hoischen Alexander, ‘t Hoen Peter A.C., Vissers Lisenka E.L.M., Gilissen Christian, Steyaert Wouter, Sablauskas Karolis, de Voer Richarda M., Kamsteeg Erik-Jan, van de Warrenburg Bart, van Os Nienke, Paske Iris te, Janssen Erik, de Boer Elke, Steehouwer Marloes, Yaldiz Burcu, Kleefstra Tjitske, Brookes Anthony J., Veal Colin, Gibson Spencer, Maddi Vatsalya, Mehtarizadeh Mehdi, Riaz Umar, Warren Greg, Dizjikan Farid Yavari, Shorter Thomas, Töpf Ana, 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, Peyron Christine, Pélissier Aurore, Beltran Sergi, Gut Ivo Glynne, Laurie Steven, Piscia Davide, Matalonga Leslie, Papakonstantinou Anastasios, Bullich Gemma, Corvo Alberto, Fernandez-Callejo Marcos, Hernández Carles, Picó Daniel, Paramonov Ida, Lochmüller Hanns, Gumus Gulcin, Bros-Facer Virginie, Rath Ana, Hanauer Marc, Lagorce David, Hongnat Oscar, Chahdil Maroua, 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, Lišková Petra, Doležalová Pavla, Parkinson Helen, Keane Thomas, Freeberg Mallory, Thomas Coline, Spalding Dylan, Robinson Peter, Danis Daniel, Robert Glenn, Costa Alessia, Patch Christine, Hanna Mike, Houlden Henry, Reilly Mary, Vandrovcova Jana, Efthymiou Stephanie, Morsy Heba, Cali Elisa, Magrinelli Francesca, Sisodiya Sanjay M., Rohrer Jonathan, Muntoni Francesco, Zaharieva Irina, Sarkozy Anna, Timmerman Vincent, Baets Jonathan, de Vries Geert, De Winter Jonathan, Beijer Danique, de Jonghe Peter, Van de Vondel Liedewei, De Ridder Willem, Weckhuysen Sarah, Nigro Vincenzo, Mutarelli Margherita, Morleo Manuela, Pinelli Michele, Varavallo Alessandra, Banfi Sandro, Torella Annalaura, Musacchia Francesco, Piluso Giulio, Ferlini Alessandra, Selvatici Rita, Gualandi Francesca, Bigoni Stefania, Rossi Rachele, Neri Marcella, Aretz Stefan, Spier Isabel, Sommer Anna Katharina, Peters Sophia, Oliveira Carla, Pelaez Jose Garcia, Matos Ana Rita, José Celina São, Ferreira Marta, Gullo Irene, Fernandes Susana, Garrido Luzia, Ferreira Pedro, Carneiro Fátima, Swertz Morris A., Johansson Lennart, van der Velde Joeri K., van der Vries Gerben, Neerincx Pieter B., Ruvolo David, Abbott Kristin M., Kerstjens Frederikse Wilhemina S., Zonneveld-Huijssoon Eveline, Roelofs-Prins Dieuwke, van Gijn Marielle, Köhler Sebastian, Metcalfe Alison, Verloes Alain, Drunat Séverine, Heron Delphine, Mignot Cyril, Keren Boris, Agathe Jean-Madeleine de Sainte, Rooryck Caroline, Lacombe Didier, Trimouille Aurelien, Capella Gabriel, Valle Laura, Holinski-Feder Elke, Laner Andreas, Steinke-Lange Verena, Cilio Maria-Roberta, Carpancea Evelina, Depondt Chantal, Lederer Damien, Sznajer Yves, Duerinckx Sarah, Mary Sandrine, Macaya Alfons, Cazurro-Gutiérrez Ana, Pérez-Dueñas Belén, Munell Francina, Jarava Clara Franco, Masó Laura Batlle, Marcé-Grau Anna, Colobran Roger, Hackman Peter, Johari Mridul, Savarese Marco, Udd Bjarne, Hemelsoet Dimitri, Dermaut Bart, Schuermans Nika, Poppe Bruce, Verdin Hannah, Osorio Andrés Nascimento, Depienne Christel, Roos Andreas, Maystadt Isabelle, Cordts Isabell, Deschauer Marcus, Striano Pasquale, Zara Federico, Riva Antonella, Iacomino Michele, Uva Paolo, Scala Marcello, Scudieri Paolo, Başak Ayşe Nazlı, Claeys Kristl, Boztug Kaan, Haimel Matthias, W.E Gijs, Ruivenkamp Claudia A.L., Natera de Benito Daniel, Lochmüller Hanns, Thompson Rachel, Polavarapu Kiran, Grimbacher Bodo, Zaganas Ioannis, Kokosali Evgenia, Lambros Mathioudakis, Evangeliou Athanasios, Spilioti Martha, Kapaki Elisabeth, Bourbouli Mara, Ciolfi Andrea, Dallapiccola Bruno, Pizzi Simone, Radio Francesca Clementina, Tartaglia Marco, Balicza Peter, Molnar Maria Judit, De la Paz Manuel Posada, Sánchez Eva Bermejo, Martín Estrella López, Delgado Beatriz Martínez, Alonso García de la Rosa F. Javier, Schröck Evelin, Rump Andreas, Mei Davide, Vetro Annalisa, Balestrini Simona, Guerrini Renzo, Horvath Rita, Chinnery Patrick F., Ratnaike Thiloka, Gao Fei, Schon Katherine, Maver Ales, Peterlin Borut, Münchau Alexander, Lohmann Katja, Herzog Rebecca, Pauly Martje, May Patrick, Beeson David, Cossins Judith, Renieri Alessandra, Furini Simone, Fallerini Chiara, Benetti Elisa, Afenjar Alexandra, Goldenberg Alice, Masurel Alice, Phan Alice, Dieux-Coeslier Anne, Fargeot Anne, Guerrot Anne-Marie, Toutain Annick, Molin Arnaud, Sorlin Arthur, Putoux Audrey, Jouret Béatrice, Laudier Béatrice, Demeer Bénédicte, Doray Bérénice, Bonniaud Bertille, Isidor Bertrand, Gilbert-Dussardier Brigitte, Leheup Bruno, Reversade Bruno, Paul Carle, Vincent-Delorme Catherine, Neiva Cecilia, Poirsier Céline, Quélin Chloé, Chiaverini Christine, Coubes Christine, Francannet Christine, Colson Cindy, Desplantes Claire, Wells Constance, Goizet Cyril, Lederer Damien, Sanlaville Damien, Amram Daniel, Lehalle Daphné, Geneviève David, Heron Delphine, Lacombe Didier, Gaillard Dominique, Zivi Einat, Sarrazin Elisabeth, Steichen Elisabeth, Schaefer Élise, Lacaze Elodie, Jacquemin Emmanuel, Bongers Ernie, Kilic Esra, Colin Estelle, Giuliano Fabienne, Prieur Fabienne, Laffargue Fanny, Morice-Picard Fanny, Petit Florence, Cartault François, Feillet François, Baujat Geneviève, Morin Gilles, Diene Gwenaëlle, Journel Hubert, Maystadt Isabelle, Perthus Isabelle, Lespinasse James, Alessandri Jean-Luc, Amiel Jeanne, Martinovic Jelena, Delanne Julian, Albuisson Juliette, Lambert Laëtitia, Perrin Laurence, Ousager Lilian Bomme, Van Maldergem Lionel, Pinson Lucile, Ruaud Lyse, Samimi Mahtab, Bournez Marie, Bonnet-Dupeyron Marie Noëlle, Vincent Marie, Jacquemont Marie-Line, Cordier-Alex Marie-Pierre, Gérard-Blanluet Marion, Willems Marjolaine, Spodenkiewicz Marta, Doco-Fenzy Martine, Rossi Massimiliano, Renaud Mathilde, Fradin Mélanie, Mathieu Michèle, Holder-Espinasse Muriel H., Houcinat Nada, Hanna Nadine, Leperrier Nathalie, Chassaing Nicolas, Philip Nicole, Boute Odile, Van Kien Philippe Khau, Parent Philippe, Bitoun Pierre, Sarda Pierre, Vabres Pierre, Jouk Pierre-Simon, Touraine Renaud, El Chehadeh Salima, Whalen Sandra, Marlin Sandrine, Passemard Sandrine, Grotto Sarah, Bellanger Séverine Audebert, Blesson Sophie, Nambot Sophie, Naudion Sophie, Lyonnet Stanislas, Odent Sylvie, Attie-Bitach Tania, Busa Tiffany, Drouin-Garraud Valérie, Layet Valérie, Bizaoui Varoona, Cusin Véronica, Capri Yline, Alembik Yves
Subject
Genetics (clinical)
Cited by
4 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
|
|