PIZZI, SIMONE
PIZZI, SIMONE
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
2023-01-01 Denommé-Pichon, Anne-Sophie; 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
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
2023-01-01 Burcu, Yaldiz; Erdi, Kucuk; Juliet, Hampstead; Tom, Hofste; Rolph, Pfundt; Jordi, Corominas Galbany; Tuula, Rinne; Helger G, Yntema; Alexander, Hoischen; Marcel, Nelen; Christian, Gilissen; consortium: Olaf Riess, olve-RD; B Haack, Tobias; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; M Schulze-Hentrich, Julia; 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; C 't Hoen, Peter A; M Vissers, Lisenka E L; Gilissen, Christian; Steyaert, Wouter; Sablauskas, Karolis; M de Voer, Richarda; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; Te Paske, Iris; Janssen, Erik; de Boer, Elke; Steehouwer, Marloes; Yaldiz, Burcu; Kleefstra, Tjitske; J Brookes, Anthony; Veal, Colin; Gibson, Spencer; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Yavari Dizjikan, Farid; Shorter, Thomas; Töpf, Ana; Straub, Volker; Marini Bettolo, Chiara; Diaz Manera, Jordi; 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; Glynne Gut, Ivo; 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 Jr, Milan; Turnovec, Marek; Thomasová, Dana; Pourová Kremliková, Radka; 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; M Sisodiya, Sanjay; 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; Katharina Sommer, Anna; Peters, Sophia; Oliveira, Carla; Garcia Pelaez, Jose; Rita Matos, Ana; São José, Celina; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; A Swertz, Morris; Johansson, Lennart; K van der Velde, Joeri; van der Vries, Gerben; B Neerincx, Pieter; Ruvolo, David; M Abbott, Kristin; SKerstjens Frederikse, Wilhemina; Zonneveld-Huijssoon, Eveline; Roelofs-Prins, Dieuwke; van Gijn, Marielle; Köhler, Sebastian; Metcalfe, Alison; Verloes, Alain; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; de Sainte Agathe, Jean-Madeleine; Rooryck, Caroline; Lacombe, Didier; Trimouille, Aurelien; Posada De la Paz, Manuel; Bermejo Sánchez, Eva; López Martín, Estrella; Martínez Delgado, Beatriz; Javier Alonso García de la Rosa, F; Ciolfi, Andrea; Dallapiccola, Bruno; Pizzi, Simone; Clementina Radio, Francesca; Tartaglia, Marco; Renieri, Alessandra; Furini, Simone; Fallerini, Chiara; Benetti, Elisa; Balicza, Peter; Judit Molnar, Maria; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; Macaya, Alfons; Cazurro-Gutiérrez, Ana; Pérez-Dueñas, Belén; Munell, Francina; Franco Jarava, Clara; Batlle Masó, Laura; Marcé-Grau, Anna; Colobran, Roger; Nascimento Osorio, Andrés; Natera de Benito, Daniel; Lochmüller, Hanns; Thompson, Rachel; Polavarapu, Kiran; Grimbacher, Bodo; Beeson, David; Cossins, Judith; Hackman, Peter; Johari, Mridul; Savarese, Marco; Udd, Bjarne; Horvath, Rita; F Chinnery, Patrick; Ratnaike, Thiloka; Gao, Fei; Schon, Katherine; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas; Nazlı Başak, Ayşe; Hemelsoet, Dimitri; Dermaut, Bart; Schuermans, Nika; Poppe, Bruce; Verdin, Hannah; Mei, Davide; Vetro, Annalisa; Balestrini, Simona; Guerrini, Renzo; Claeys, Kristl; E Santen, Gijs W; K Bijlsma, Emilia; V Hoffer, Mariette J; L Ruivenkamp, Claudia A; Boztug, Kaan; Haimel, Matthias; Maystadt, Isabelle; Cordts, Isabelle; Deschauer, Marcus; Zaganas, Ioannis; Kokosali, Evgenia; Lambros, Mathioudakis; Evangeliou, Athanasios; Spilioti, Martha; Kapaki, Elisabeth; Bourbouli, Mara; Striano, Pasquale; Zara, Federico; Riva, Antonella; Iacomino, Michele; Uva, Paolo; Scala, Marcello; Scudieri, Paolo; Cilio, Maria-Roberta; Carpancea, Evelina; Depondt, Chantal; Lederer, Damien; Sznajer, Yves; Duerinckx, Sarah; Mary, Sandrine; Depienne, Christel; Roos, Andreas; May, Patrick
| Titolo | Data di pubblicazione | Autore(i) | File | Abstract |
|---|---|---|---|---|
| A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing | 1-gen-2023 | Denommé-Pichon, Anne-Sophie; 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 | - | |
| Twist exome capture allows for lower average sequence coverage in clinical exome sequencing | 1-gen-2023 | Burcu, Yaldiz; Erdi, Kucuk; Juliet, Hampstead; Tom, Hofste; Rolph, Pfundt; Jordi, Corominas Galbany; Tuula, Rinne; Helger G, Yntema; Alexander, Hoischen; Marcel, Nelen; Christian, Gilissen; consortium: Olaf Riess, olve-RD; B Haack, Tobias; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; M Schulze-Hentrich, Julia; 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; C 't Hoen, Peter A; M Vissers, Lisenka E L; Gilissen, Christian; Steyaert, Wouter; Sablauskas, Karolis; M de Voer, Richarda; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; Te Paske, Iris; Janssen, Erik; de Boer, Elke; Steehouwer, Marloes; Yaldiz, Burcu; Kleefstra, Tjitske; J Brookes, Anthony; Veal, Colin; Gibson, Spencer; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Yavari Dizjikan, Farid; Shorter, Thomas; Töpf, Ana; Straub, Volker; Marini Bettolo, Chiara; Diaz Manera, Jordi; 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; Glynne Gut, Ivo; 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 Jr, Milan; Turnovec, Marek; Thomasová, Dana; Pourová Kremliková, Radka; 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; M Sisodiya, Sanjay; 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; Katharina Sommer, Anna; Peters, Sophia; Oliveira, Carla; Garcia Pelaez, Jose; Rita Matos, Ana; São José, Celina; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; A Swertz, Morris; Johansson, Lennart; K van der Velde, Joeri; van der Vries, Gerben; B Neerincx, Pieter; Ruvolo, David; M Abbott, Kristin; SKerstjens Frederikse, Wilhemina; Zonneveld-Huijssoon, Eveline; Roelofs-Prins, Dieuwke; van Gijn, Marielle; Köhler, Sebastian; Metcalfe, Alison; Verloes, Alain; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; de Sainte Agathe, Jean-Madeleine; Rooryck, Caroline; Lacombe, Didier; Trimouille, Aurelien; Posada De la Paz, Manuel; Bermejo Sánchez, Eva; López Martín, Estrella; Martínez Delgado, Beatriz; Javier Alonso García de la Rosa, F; Ciolfi, Andrea; Dallapiccola, Bruno; Pizzi, Simone; Clementina Radio, Francesca; Tartaglia, Marco; Renieri, Alessandra; Furini, Simone; Fallerini, Chiara; Benetti, Elisa; Balicza, Peter; Judit Molnar, Maria; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; Macaya, Alfons; Cazurro-Gutiérrez, Ana; Pérez-Dueñas, Belén; Munell, Francina; Franco Jarava, Clara; Batlle Masó, Laura; Marcé-Grau, Anna; Colobran, Roger; Nascimento Osorio, Andrés; Natera de Benito, Daniel; Lochmüller, Hanns; Thompson, Rachel; Polavarapu, Kiran; Grimbacher, Bodo; Beeson, David; Cossins, Judith; Hackman, Peter; Johari, Mridul; Savarese, Marco; Udd, Bjarne; Horvath, Rita; F Chinnery, Patrick; Ratnaike, Thiloka; Gao, Fei; Schon, Katherine; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas; Nazlı Başak, Ayşe; Hemelsoet, Dimitri; Dermaut, Bart; Schuermans, Nika; Poppe, Bruce; Verdin, Hannah; Mei, Davide; Vetro, Annalisa; Balestrini, Simona; Guerrini, Renzo; Claeys, Kristl; E Santen, Gijs W; K Bijlsma, Emilia; V Hoffer, Mariette J; L Ruivenkamp, Claudia A; Boztug, Kaan; Haimel, Matthias; Maystadt, Isabelle; Cordts, Isabelle; Deschauer, Marcus; Zaganas, Ioannis; Kokosali, Evgenia; Lambros, Mathioudakis; Evangeliou, Athanasios; Spilioti, Martha; Kapaki, Elisabeth; Bourbouli, Mara; Striano, Pasquale; Zara, Federico; Riva, Antonella; Iacomino, Michele; Uva, Paolo; Scala, Marcello; Scudieri, Paolo; Cilio, Maria-Roberta; Carpancea, Evelina; Depondt, Chantal; Lederer, Damien; Sznajer, Yves; Duerinckx, Sarah; Mary, Sandrine; Depienne, Christel; Roos, Andreas; May, Patrick | - |