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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

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Abstract
Purpose: Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the "ClinVar low-hanging fruit" reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods: Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results: We identified causal variants in 59 cases (3.9%), 50 of them also raised by other ap-proaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion: The "ClinVar low-hanging fruit" analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock. (c) 2023 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
Keywords
Genetics (clinical), Rare diseases, Exome reanalysis, Developmental disorder, ClinVar

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MLA
Denommé-Pichon, Anne-Sophie, et al. “A Solve-RD ClinVar-Based Reanalysis of 1522 Index Cases from ERN-ITHACA Reveals Common Pitfalls and Misinterpretations in Exome Sequencing.” GENETICS IN MEDICINE, vol. 25, no. 4, 2023, doi:10.1016/j.gim.2023.100018.
APA
Denommé-Pichon, A.-S., Matalonga, L., de Boer, E., Jackson, A., Benetti, E., Banka, S., … Orphanomix Group, [missing]. (2023). A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing. GENETICS IN MEDICINE, 25(4). https://doi.org/10.1016/j.gim.2023.100018
Chicago author-date
Denommé-Pichon, Anne-Sophie, Leslie Matalonga, Elke de Boer, Adam Jackson, Elisa Benetti, Siddharth Banka, Ange-Line Bruel, et al. 2023. “A Solve-RD ClinVar-Based Reanalysis of 1522 Index Cases from ERN-ITHACA Reveals Common Pitfalls and Misinterpretations in Exome Sequencing.” GENETICS IN MEDICINE 25 (4). https://doi.org/10.1016/j.gim.2023.100018.
Chicago author-date (all authors)
Denommé-Pichon, Anne-Sophie, 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, Antonio Vitobello, Lisenka E.L.M. Vissers, Laurence Faivre, Kristin M. Abbott, Mieke Kerstjens, Estrella López Martín, Isabelle Maystadt, Manuela Morleo, Vicenzo Nigro, Michele Pinelli, Francesca C. Radio, Olaf Riess, Jean-Madeleine de Sainte Agathe, Gijs W.E. Santen, Christel Thauvin, Annalaura Torella, Lisenka Vissers, Kristina Zguro, Enzo Cohen, Daniel Danis, Fei Gao, Rita Horvath, Mridul Johari, Lennart Johanson, Shuang Li, Heba Morsy, Isabelle Nelson, Ida Paramonov, Iris B.A.W. te Paske, Peter Robinson, Marco Savarese, Wouter Steyaert, Ana Töpf, Joeri K. van der Velde, Jana Vandrovcova, Olaf Riess, 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, Peter A.C. ‘t Hoen, Wouter Steyaert, Karolis Sablauskas, Richarda M. de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Marloes Steehouwer, Burcu Yaldiz, 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, Elizabeth Alexander, Christel Thauvin, Christine Peyron, Aurore Pélissier, Sergi Beltran, Ivo Glynne Gut, Steven Laurie, Davide Piscia, 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, Marek Turnovec, Dana Thomasová, Radka Pourová Kremliková, Vera Franková, 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, Séverine Drunat, Delphine Heron, Cyril Mignot, Boris Keren, Jean-Madeleine de Sainte Agathe, Didier Lacombe, 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, 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, Simone Furini, 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, [missing] Solve-RD DITF-ITHACA, [missing] Solve-RD SNV-indel Working Group, [missing] Solve-RD Consortia, and [missing] Orphanomix Group. 2023. “A Solve-RD ClinVar-Based Reanalysis of 1522 Index Cases from ERN-ITHACA Reveals Common Pitfalls and Misinterpretations in Exome Sequencing.” GENETICS IN MEDICINE 25 (4). doi:10.1016/j.gim.2023.100018.
Vancouver
1.
Denommé-Pichon A-S, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, et al. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing. GENETICS IN MEDICINE. 2023;25(4).
IEEE
[1]
A.-S. Denommé-Pichon et al., “A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing,” GENETICS IN MEDICINE, vol. 25, no. 4, 2023.
@article{01GYYMK7P6MRHM0QJ19FAMCXHH,
  abstract     = {{Purpose: Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the "ClinVar low-hanging fruit" reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods: Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results: We identified causal variants in 59 cases (3.9%), 50 of them also raised by other ap-proaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion: The "ClinVar low-hanging fruit" analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock. (c) 2023 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).}},
  articleno    = {{100018}},
  author       = {{Denommé-Pichon, Anne-Sophie and Matalonga, Leslie and de Boer, Elke and Jackson, Adam and Benetti, Elisa and Banka, Siddharth and Bruel, Ange-Line and Ciolfi, Andrea and Clayton-Smith, Jill and Dallapiccola, Bruno and Duffourd, Yannis and Ellwanger, Kornelia and Fallerini, Chiara and Gilissen, Christian and Graessner, Holm and Haack, Tobias B. and Havlovicova, Marketa and Hoischen, Alexander and Jean-Marçais, Nolwenn and Kleefstra, Tjitske and López-Martín, Estrella and Macek, Milan and Mencarelli, Maria Antonietta and Moutton, Sébastien and Pfundt, Rolph and Pizzi, Simone and Posada, Manuel and Radio, Francesca Clementina and Renieri, Alessandra and Rooryck, Caroline and Ryba, Lukas and Safraou, Hana and Schwarz, Martin and Tartaglia, Marco and Thauvin-Robinet, Christel and Thevenon, Julien and Tran Mau-Them, Frédéric and Trimouille, Aurélien and Votypka, Pavel and de Vries, Bert B.A. and Willemsen, Marjolein H. and Zurek, Birte and Verloes, Alain and Philippe, Christophe and Vitobello, Antonio and Vissers, Lisenka E.L.M. and Faivre, Laurence and Abbott, Kristin M. and Kerstjens, Mieke and Martín, Estrella López and Maystadt, Isabelle and Morleo, Manuela and Nigro, Vicenzo and Pinelli, Michele and Radio, Francesca C. and Riess, Olaf and Agathe, Jean-Madeleine de Sainte and Santen, Gijs W.E. and Thauvin, Christel and Torella, Annalaura and Vissers, Lisenka and Zguro, Kristina and Cohen, Enzo and Danis, Daniel and Gao, Fei and Horvath, Rita and Johari, Mridul and Johanson, Lennart and Li, Shuang and Morsy, Heba and Nelson, Isabelle and Paramonov, Ida and te Paske, Iris B.A.W. and Robinson, Peter and Savarese, Marco and Steyaert, Wouter and Töpf, Ana and van der Velde, Joeri K. and Vandrovcova, Jana and Riess, Olaf and Ossowski, Stephan and Demidov, German and Sturm, Marc and Schulze-Hentrich, Julia M. and Schüle, Rebecca and Xu, Jishu and Kessler, Christoph and Wayand, Melanie and Synofzik, Matthis and Wilke, Carlo and Traschütz, Andreas and Schöls, Ludger and Hengel, Holger and Lerche, Holger and Kegele, Josua and Heutink, Peter and Brunner, Han and Scheffer, Hans and Hoogerbrugge, Nicoline and ‘t Hoen, Peter A.C. and Steyaert, Wouter and Sablauskas, Karolis and de Voer, Richarda M. and Kamsteeg, Erik-Jan and van de Warrenburg, Bart and van Os, Nienke and Paske, Iris te and Janssen, Erik and Steehouwer, Marloes and Yaldiz, Burcu and Brookes, Anthony J. and Veal, Colin and Gibson, Spencer and Maddi, Vatsalya and Mehtarizadeh, Mehdi and Riaz, Umar and Warren, Greg and Dizjikan, Farid Yavari and Shorter, Thomas and Töpf, Ana and Straub, Volker and Bettolo, Chiara Marini and Manera, Jordi Diaz and Hambleton, Sophie and Engelhardt, Karin and Alexander, Elizabeth and Thauvin, Christel and Peyron, Christine and Pélissier, Aurore and Beltran, Sergi and Gut, Ivo Glynne and Laurie, Steven and Piscia, Davide and Papakonstantinou, Anastasios and Bullich, Gemma and Corvo, Alberto and Fernandez-Callejo, Marcos and Hernández, Carles and Picó, Daniel and Paramonov, Ida and Lochmüller, Hanns and Gumus, Gulcin and Bros-Facer, Virginie and Rath, Ana and Hanauer, Marc and Lagorce, David and Hongnat, Oscar and Chahdil, Maroua and Lebreton, Emeline and Stevanin, Giovanni and Durr, Alexandra and Davoine, Claire-Sophie and Guillot-Noel, Léna and Heinzmann, Anna and Coarelli, Giulia and Bonne, Gisèle and Evangelista, Teresinha and Allamand, Valérie and Nelson, Isabelle and Ben Yaou, Rabah and Metay, Corinne and Eymard, Bruno and Cohen, Enzo and Atalaia, Antonio and Stojkovic, Tanya and Turnovec, Marek and Thomasová, Dana and Kremliková, Radka Pourová and Franková, Vera and Lišková, Petra and Doležalová, Pavla and Parkinson, Helen and Keane, Thomas and Freeberg, Mallory and Thomas, Coline and Spalding, Dylan and Robinson, Peter and Danis, Daniel and Robert, Glenn and Costa, Alessia and Patch, Christine and Hanna, Mike and Houlden, Henry and Reilly, Mary and Vandrovcova, Jana and Efthymiou, Stephanie and Morsy, Heba and Cali, Elisa and Magrinelli, Francesca and Sisodiya, Sanjay M. and Rohrer, Jonathan and Muntoni, Francesco and Zaharieva, Irina and Sarkozy, Anna and Timmerman, Vincent and Baets, Jonathan and de Vries, Geert and De Winter, Jonathan and Beijer, Danique and de Jonghe, Peter and Van de Vondel, Liedewei and De Ridder, Willem and Weckhuysen, Sarah and Nigro, Vincenzo and Mutarelli, Margherita and Morleo, Manuela and Pinelli, Michele and Varavallo, Alessandra and Banfi, Sandro and Torella, Annalaura and Musacchia, Francesco and Piluso, Giulio and Ferlini, Alessandra and Selvatici, Rita and Gualandi, Francesca and Bigoni, Stefania and Rossi, Rachele and Neri, Marcella and Aretz, Stefan and Spier, Isabel and Sommer, Anna Katharina and Peters, Sophia and Oliveira, Carla and Pelaez, Jose Garcia and Matos, Ana Rita and José, Celina São and Ferreira, Marta and Gullo, Irene and Fernandes, Susana and Garrido, Luzia and Ferreira, Pedro and Carneiro, Fátima and Swertz, Morris A. and Johansson, Lennart and van der Velde, Joeri K. and van der Vries, Gerben and Neerincx, Pieter B. and Ruvolo, David and Abbott, Kristin M. and Kerstjens Frederikse, Wilhemina S. and Zonneveld-Huijssoon, Eveline and Roelofs-Prins, Dieuwke and van Gijn, Marielle and Köhler, Sebastian and Metcalfe, Alison and Drunat, Séverine and Heron, Delphine and Mignot, Cyril and Keren, Boris and Agathe, Jean-Madeleine de Sainte and Lacombe, Didier and Capella, Gabriel and Valle, Laura and Holinski-Feder, Elke and Laner, Andreas and Steinke-Lange, Verena and Cilio, Maria-Roberta and Carpancea, Evelina and Depondt, Chantal and Lederer, Damien and Sznajer, Yves and Duerinckx, Sarah and Mary, Sandrine and Macaya, Alfons and Cazurro-Gutiérrez, Ana and Pérez-Dueñas, Belén and Munell, Francina and Jarava, Clara Franco and Masó, Laura Batlle and Marcé-Grau, Anna and Colobran, Roger and Hackman, Peter and Johari, Mridul and Savarese, Marco and Udd, Bjarne and Hemelsoet, Dimitri and Dermaut, Bart and Schuermans, Nika and Poppe, Bruce and Verdin, Hannah and Osorio, Andrés Nascimento and Depienne, Christel and Roos, Andreas and Maystadt, Isabelle and Cordts, Isabell and Deschauer, Marcus and Striano, Pasquale and Zara, Federico and Riva, Antonella and Iacomino, Michele and Uva, Paolo and Scala, Marcello and Scudieri, Paolo and Başak, Ayşe Nazlı and Claeys, Kristl and Boztug, Kaan and Haimel, Matthias and W.E, Gijs and Ruivenkamp, Claudia A.L. and Natera de Benito, Daniel and Lochmüller, Hanns and Thompson, Rachel and Polavarapu, Kiran and Grimbacher, Bodo and Zaganas, Ioannis and Kokosali, Evgenia and Lambros, Mathioudakis and Evangeliou, Athanasios and Spilioti, Martha and Kapaki, Elisabeth and Bourbouli, Mara and Balicza, Peter and Molnar, Maria Judit and De la Paz, Manuel Posada and Sánchez, Eva Bermejo and Martín, Estrella López and Delgado, Beatriz Martínez and Alonso García de la Rosa, F. Javier and Schröck, Evelin and Rump, Andreas and Mei, Davide and Vetro, Annalisa and Balestrini, Simona and Guerrini, Renzo and Horvath, Rita and Chinnery, Patrick F. and Ratnaike, Thiloka and Gao, Fei and Schon, Katherine and Maver, Ales and Peterlin, Borut and Münchau, Alexander and Lohmann, Katja and Herzog, Rebecca and Pauly, Martje and May, Patrick and Beeson, David and Cossins, Judith and Furini, Simone and Afenjar, Alexandra and Goldenberg, Alice and Masurel, Alice and Phan, Alice and Dieux-Coeslier, Anne and Fargeot, Anne and Guerrot, Anne-Marie and Toutain, Annick and Molin, Arnaud and Sorlin, Arthur and Putoux, Audrey and Jouret, Béatrice and Laudier, Béatrice and Demeer, Bénédicte and Doray, Bérénice and Bonniaud, Bertille and Isidor, Bertrand and Gilbert-Dussardier, Brigitte and Leheup, Bruno and Reversade, Bruno and Paul, Carle and Vincent-Delorme, Catherine and Neiva, Cecilia and Poirsier, Céline and Quélin, Chloé and Chiaverini, Christine and Coubes, Christine and Francannet, Christine and Colson, Cindy and Desplantes, Claire and Wells, Constance and Goizet, Cyril and Lederer, Damien and Sanlaville, Damien and Amram, Daniel and Lehalle, Daphné and Geneviève, David and Heron, Delphine and Lacombe, Didier and Gaillard, Dominique and Zivi, Einat and Sarrazin, Elisabeth and Steichen, Elisabeth and Schaefer, Élise and Lacaze, Elodie and Jacquemin, Emmanuel and Bongers, Ernie and Kilic, Esra and Colin, Estelle and Giuliano, Fabienne and Prieur, Fabienne and Laffargue, Fanny and Morice-Picard, Fanny and Petit, Florence and Cartault, François and Feillet, François and Baujat, Geneviève and Morin, Gilles and Diene, Gwenaëlle and Journel, Hubert and Maystadt, Isabelle and Perthus, Isabelle and Lespinasse, James and Alessandri, Jean-Luc and Amiel, Jeanne and Martinovic, Jelena and Delanne, Julian and Albuisson, Juliette and Lambert, Laëtitia and Perrin, Laurence and Ousager, Lilian Bomme and Van Maldergem, Lionel and Pinson, Lucile and Ruaud, Lyse and Samimi, Mahtab and Bournez, Marie and Bonnet-Dupeyron, Marie Noëlle and Vincent, Marie and Jacquemont, Marie-Line and Cordier-Alex, Marie-Pierre and Gérard-Blanluet, Marion and Willems, Marjolaine and Spodenkiewicz, Marta and Doco-Fenzy, Martine and Rossi, Massimiliano and Renaud, Mathilde and Fradin, Mélanie and Mathieu, Michèle and Holder-Espinasse, Muriel H. and Houcinat, Nada and Hanna, Nadine and Leperrier, Nathalie and Chassaing, Nicolas and Philip, Nicole and Boute, Odile and Van Kien, Philippe Khau and Parent, Philippe and Bitoun, Pierre and Sarda, Pierre and Vabres, Pierre and Jouk, Pierre-Simon and Touraine, Renaud and El Chehadeh, Salima and Whalen, Sandra and Marlin, Sandrine and Passemard, Sandrine and Grotto, Sarah and Bellanger, Séverine Audebert and Blesson, Sophie and Nambot, Sophie and Naudion, Sophie and Lyonnet, Stanislas and Odent, Sylvie and Attie-Bitach, Tania and Busa, Tiffany and Drouin-Garraud, Valérie and Layet, Valérie and Bizaoui, Varoona and Cusin, Véronica and Capri, Yline and Alembik, Yves and Solve-RD DITF-ITHACA, [missing] and Solve-RD SNV-indel Working Group, [missing] and Solve-RD Consortia, [missing] and Orphanomix Group, [missing]}},
  issn         = {{1098-3600}},
  journal      = {{GENETICS IN MEDICINE}},
  keywords     = {{Genetics (clinical),Rare diseases,Exome reanalysis,Developmental disorder,ClinVar}},
  language     = {{eng}},
  number       = {{4}},
  pages        = {{15}},
  title        = {{A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing}},
  url          = {{http://doi.org/10.1016/j.gim.2023.100018}},
  volume       = {{25}},
  year         = {{2023}},
}

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