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Cardiac conduction disorders in young adults: clinical characteristics and genetic background of an underestimated population
Balla, Cristina; Margutti, Alice; De Carolis, Beatrice; Canovi, Luca; Di Domenico, Assunta; Vivaldi, Ilaria; Vitali, Francesco; De Raffele, Martina; Malagù, Michele; Sassone, Biagio; Biffi, Mauro; Selvatici, Rita; Ferlini, Alessandra; Gualandi, Francesca; Bertini, Matteo
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Contributo in rivista (Pubblicazione in Rivista) |
HEART RHYTHM
Vol. In Press, No. Journal Pre-proof, pp: 1-28, Anno: 2024 |
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DMD deletions underlining mild dystrophinopathies: literature review highlights phenotype-related mutation clusters and provides insights about genetic mechanisms and prognosis
Fortunato, Fernanda; Tonelli, Laura; Farnè, Marianna; Selvatici, Rita; Ferlini, Alessandra
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FRONTIERS IN NEUROLOGY
Vol. 14, No. 15 gennaio 2024, pp: 1288721-1-1288721-9, Anno: 2024 |
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Brugada Syndrome: More than a Monogenic Channelopathy
Liantonio, Antonella; Bertini, Matteo; Mele, Antonietta; Balla, Cristina; Dinoi, Giorgia; Selvatici, Rita; Mele, Marco; De Luca, Annamaria; Gualandi, Francesca; Imbrici, Paola
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Contributo in rivista (Pubblicazione in Rivista) |
BIOMEDICINES
Vol. 11, No. 8, pp: 2297-1-2297-18, Anno: 2023 |
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Rare diseases' genetic newborn screening as the gateway to future genomic medicine: the Screen4Care EU-IMI project
Ferlini, Alessandra; Gross, Edith Sky; Garnier, Nicolas; Berghout, Joanne; Zygmunt, Aldona; Singh, Deependra; Huang, Kui A.; Kantz, Waltraud; Blankart, Carl Rudolf; Gillner, Sandra; Zhao, Jiawei; Roettger, Richard; Saier, Christina; Kirschner, Jan; Schenk, Joern; Atkins, Leon; Ryan, Nuala; Zarakowska, Kaja; Zschüntzsch, Jana; Zuccolo, Michela; Müllenborn, Matthias; Man, Yuen-Sum; Goodman, Liz; Lysogene, Marie Trad; Chalandon, Anne Sophie; Sansen, Stefaan; Martinez-Fresno, Maria; Badger, Shirlene; van Olden, Rudolf Walther; Rothmann, Robert; Lehner, Patrick; Tschohl, Christof; Baillon, Ludovic; Gumus, Gulcin; Stefanov, Rumen; Iskrov, Georgi; Raycheva, Ralitsa; Kostadinov, Kostadin; Stefanov, Georgi; Mitova, Elena; Einhorn, Moshe; Einhorn, Yaron; Schepers, Josef; Hübner, Miriam; Alves, Frauke; Iskandar, Rowan; Mayer, Rudolf; Renieri, Alessandra; Piperkova, Aneta; Gut, Ivo; Beltran, Sergi; Matthiesen, Mads Emil; Poetz, Marion; Hansson, Mats; Trollmann, Regina; Agolini, Emanuele; Ottombrino, Silvia; Novelli, Antonio; Bertini, Enrico; Selvatici, Rita; Farnè, Marianna; Fortunato, Fernanda
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Contributo in rivista (Pubblicazione in Rivista) |
ORPHANET JOURNAL OF RARE DISEASES
Vol. 18, No. 1, pp: 310-1-310-4, Anno: 2023 |
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Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
Jackson, Adam; Lin, Sheng-Jia; Jones, Elizabeth A.; Chandler, Kate E.; Orr, David; Moss, Celia; Haider, Zahra; Ryan, Gavin; Holden, Simon; Harrison, Mike; Burrows, Nigel; Jones, Wendy D.; Loveless, Mary; Petree, Cassidy; Stewart, Helen; Low, Karen; Donnelly, Deirdre; Lovell, Simon; Drosou, Konstantina; Varshney, Gaurav K.; Banka, Siddharth; Ambrose, J. C.; Arumugam, P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C. R.; Brittain, H.; Brown, M. A.; Caulfield, M. J.; Chan, G. C.; Giess, A.; Griffin, J. N.; Hamblin, A.; Henderson, S.; Hubbard, T. J. P.; Jackson, R.; Jones, L. J.; Kasperaviciute, D.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Lakey, A.; Leigh, S. E. A.; Leong, I. U. S.; Lopez, F. J.; Maleady-Crowe, F.; Mcentagart, M.; Minneci, F.; Mitchell, J.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A. C.; O‘donovan, P.; Odhams, C. A.; Patch, C.; Perez-Gil, D.; Pereira, M. B.; Pullinger, J.; Rahim, T.; Rendon, A.; Rogers, T.; Savage, K.; Sawant, K.; Scott, R. H.; Siddiq, A.; Sieghart, A.; Smith, S. C.; Sosinsky, A.; Stuckey, A.; Tanguy, M.; Taylor Tavares, A. L.; Thomas, E. R. A.; Thompson, S. R.; Tucci, A.; Welland, M. J.; Williams, E.; Witkowska, K.; Wood, S. M.; Zarowiecki, M.; Riess, Olaf; Haack, Tobias B.; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Kessler, Christoph; Wayand, Melanie; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Schöls, Ludger; Hengel, Holger; 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; Wadsley, Marc; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Töpf, Ana; Straub, Volker; Bettolo, Chiara Marini; Specht, Sabine; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Tisserant, Emilie; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo, Alberto; Garcia, Carles; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Paramonov, Ida; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Olry, Annie; Lagorce, David; Havrylenko, Svitlana; Izem, Katia; Rigour, Fanny; 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; Kremlik, Vlastimil; Parkinson, Helen; Keane, Thomas; Spalding, Dylan; Senf, Alexander; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Timmerman, Vincent; Baets, Jonathan; Van de Vondel, Liedewei; Beijer, Danique; de Jonghe, Peter; Nigro, Vincenzo; Banfi, Sandro; Torella, Annalaura; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; 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.; Roelofs-Prins, Dieuwke; Köhler, Sebastian; Metcalfe, Alison; Verloes, Alain; Drunat, Séverine; Rooryck, Caroline; Trimouille, Aurelien; Castello, Raffaele; Morleo, Manuela; Pinelli, Michele; Varavallo, Alessandra; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Martín, Estrella López; Delgado, Beatriz Martínez; Alonso García de la Rosa, F. Javier; Ciolfi, Andrea; Dallapiccola, Bruno; Pizzi, Simone; Radio, Francesca Clementina; Tartaglia, Marco; Renieri, Alessandra; Benetti, Elisa; Balicza, Peter; Molnar, Maria Judit; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; Macaya, Alfons; Marcé-Grau, Anna; Osorio, Andres Nascimiento; Natera de Benito, Daniel; Lochmüller, Hanns; Thompson, Rachel; Polavarapu, Kiran; Beeson, David; Cossins, Judith; Rodriguez Cruz, Pedro M.; Hackman, Peter; Johari, Mridul; Savarese, Marco; Udd, Bjarne; Horvath, Rita; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas
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Contributo in rivista (Pubblicazione in Rivista) |
HGG ADVANCES
Vol. 4, No. 2, pp: 100186-1-100186-19, Anno: 2023 |
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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
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; 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
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Contributo in rivista (Pubblicazione in Rivista) |
GENETICS IN MEDICINE
Vol. 25, No. 4, pp: 100018-1-100018-15, Anno: 2023 |
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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
Yaldiz, Burcu; Kucuk, Erdi; Hampstead, Juliet; Hofste, Tom; Pfundt, Rolph; Corominas Galbany, Jordi; Rinne, Tuula; Yntema, Helger G.; Hoischen, Alexander; Nelen, Marcel; Gilissen, Christian; 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; Hoen, Peter A. C. ’t; 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; te Paske, Iris; 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; Yaou, Rabah Ben; 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.; Frederikse, Wilhemina SKerstjens; 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; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Martín, Estrella López; Delgado, Beatriz Martínez; de la Rosa, F. Javier Alonso García; Ciolfi, Andrea; Dallapiccola, Bruno; Pizzi, Simone; Radio, Francesca Clementina; Tartaglia, Marco; Renieri, Alessandra; Furini, Simone; Fallerini, Chiara; Benetti, Elisa; Balicza, Peter; Molnar, Maria Judit; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; Macaya, Alfons; Cazurro-Gutiérrez, Ana; Pérez-Dueñas, Belén; Munell, Francina; Jarava, Clara Franco; Masó, Laura Batlle; Marcé-Grau, Anna; Colobran, Roger; Osorio, Andrés Nascimento; de Benito, Daniel Natera; Lochmüller, Hanns; Thompson, Rachel; Polavarapu, Kiran; Grimbacher, Bodo; Beeson, David; Cossins, Judith; Hackman, Peter; Johari, Mridul; Savarese, Marco; Udd, Bjarne; Horvath, Rita; Chinnery, Patrick F.; Ratnaike, Thiloka; Gao, Fei; Schon, Katherine; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas; Başak, Ayşe Nazlı; Hemelsoet, Dimitri; Dermaut, Bart; Schuermans, Nika; Poppe, Bruce; Verdin, Hannah; Mei, Davide; Vetro, Annalisa; Balestrini, Simona; Guerrini, Renzo; Claeys, Kristl; Santen, Gijs W. E.; Bijlsma, Emilia K.; Hoffer, Mariette J. V.; Ruivenkamp, Claudia A. L.; 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; Null, Null
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HUMAN GENOMICS
Vol. 17, No. 1, pp: 39-1-39-9, Anno: 2023 |
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Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe
Garnier, Nicolas; Berghout, Joanne; Zygmunt, Aldona; Singh, Deependra; Huang, Kui A.; Kantz, Waltraud; Blankart, Carl Rudolf; Gillner, Sandra; Zhao, Jiawei; Roettger, Richard; Saier, Christina; Kirschner, Jan; Schenk, Joern; Atkins, Leon; Ryan, Nuala; Zarakowska, Kaja; Zschüntzsch, Jana; Zuccolo, Michela; Müllenborn, Matthias; Man, Yuen-Sum; Goodman, Liz; Trad, Marie; Chalandon, Anne Sophie; Sansen, Stefaan; Martinez-Fresno, Maria; Badger, Shirlene; Walther van Olden, Rudolf; Rothmann, Robert; Lehner, Patrick; Tschohl, Christof; Baillon, Ludovic; Gumus, Gulcin; Gross, Edith; Stefanov, Rumen; Iskrov, Georgi; Raycheva, Ralitsa; Kostadinov, Kostadin; Mitova, Elena; Einhorn, Moshe; Einhorn, Yaron; Schepers, Josef; Hübner, Miriam; Alves, Frauke; Iskandar, Rowan; Mayer, Rudolf; Renieri, Alessandra; Piperkova, Aneta; Gut, Ivo; Beltran, Sergi; Matthiesen, Mads Emil; Poetz, Marion; Hansson, Mats; Trollmann, Regina; Agolini, Emanuele; Ottombrino, Silvia; Novelli, Antonio; Bertini, Enrico; Selvatici, Rita; Farnè, Marianna; Fortunato, Fernanda; Ferlini, Alessandra
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PLOS ONE
Vol. 18, No. 11, pp: e0293503-1-e0293503-14, Anno: 2023 |
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mRNA in situ hybridization exhibits unbalanced nuclear/cytoplasmic dystrophin transcript repartition in Duchenne myogenic cells and skeletal muscle biopsies
Falzarano, Maria Sofia; Mietto, Martina; Fortunato, Fernanda; Farnè, Marianna; Martini, Fernanda; Ala, Pierpaolo; Selvatici, Rita; Muntoni, Francesco; Ferlini, Alessandra
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SCIENTIFIC REPORTS
Vol. 13, No. 1, pp: 15942--, Anno: 2023 |
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SCN5A mutation is associated with a higher Shanghai Score in patients with type 1 Brugada ECG pattern
Tonelli, Laura; Balla, Cristina; Farnè, Marianna; Margutti, Alice; Maniscalchi, Eugenia Tiziana; De Feo, Gaetano; Di Domenico, Assunta; De Raffele, Martina; Percesepe, Antonio; Uliana, Vera; Barili, Valeria; Serra, Walter; Sassone, Biagio; Virzì, Santo; De Maria, Elia; Parmeggiani, Giulia; Assenza, Gabriele Egidy; Biagini, Elena; Parisi, Vanda; Biffi, Mauro; Carinci, Valeria; Perugini, Enrica; Imbrici, Paola; Ferlini, Alessandra; Bertini, Matteo; Selvatici, Rita; Gualandi, Francesca
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JOURNAL OF CARDIOVASCULAR MEDICINE
Vol. 24, No. 12, pp: 864-870, Anno: 2023 |
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RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing
Falzarano, Ms; Grilli, A; Zia, S; Fang, M; Rossi, R; Gualandi, F; Rimessi, P; El Dani, R; Fabris, M; Lu, Z; Li, W; Mongini, T; Ricci, F; Pegoraro, E; Bello, L; Barp, A; Sansone, Va; Hegde, M; Roda, B; Reschiglian, P; Bicciato, S; Selvatici, R; Ferlini, A.
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HGG ADVANCES
Vol. 3, No. 1, pp: 100054-1-100054-18, Anno: 2022 |
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Solving unsolved rare neurological diseases—a Solve-RD viewpoint
Schule, R.; Timmann, D.; Erasmus, C. E.; Reichbauer, J.; Wayand, M.; Baets, J.; Balicza, P.; Chinnery, P.; Durr, A.; Haack, T.; Hengel, H.; Horvath, R.; Houlden, H.; Kamsteeg, E. -J.; Kamsteeg, C.; Lohmann, K.; Macaya, A.; Marce-Grau, A.; Maver, A.; Molnar, M. J.; Munchau, A.; Peterlin, B.; Riess, O.; Schols, L.; Stevanin, G.; Synofzik, M.; Timmerman, V.; van de Warrenburg, B.; van Os, N.; Vandrovcova, J.; Wayand, M.; Wilke, C.; van de Warrenburg, B.; Schols, L.; Wilke, C.; Bevot, A.; Zuchner, S.; Beltran, S.; Laurie, S.; Matalonga, L.; Graessner, H.; Synofzik, M.; Zurek, B.; Ellwanger, K.; Ossowski, S.; Demidov, G.; Sturm, M.; Schulze-Hentrich, J. M.; Heutink, P.; Brunner, H.; Scheffer, H.; Hoogerbrugge, N.; Hoischen, A.; 't Hoen, P. A. C.; Vissers, L. E. L. M.; Gilissen, C.; Steyaert, W.; Sablauskas, K.; de Voer, R. M.; Janssen, E.; de Boer, E.; Steehouwer, M.; Yaldiz, B.; Kleefstra, T.; Brookes, A. J.; Veal, C.; Gibson, S.; Wadsley, M.; Mehtarizadeh, M.; Riaz, U.; Warren, G.; Dizjikan, F. Y.; Shorter, T.; Topf, A.; Straub, V.; Bettolo, C. M.; Specht, S.; Clayton-Smith, J.; Banka, S.; Alexander, E.; Jackson, A.; Faivre, L.; Thauvin, C.; Vitobello, A.; Denomme-Pichon, A. -S.; Duffourd, Y.; Tisserant, E.; Bruel, A. -L.; Peyron, C.; Pelissier, A.; Gut, I. G.; Piscia, D.; Papakonstantinou, A.; Bullich, G.; Corvo, A.; Garcia, C.; Fernandez-Callejo, M.; Hernandez, C.; Pico, D.; Paramonov, I.; Lochmuller, H.; Gumus, G.; Bros-Facer, V.; Rath, A.; Hanauer, M.; Olry, A.; Lagorce, D.; Havrylenko, S.; Izem, K.; Rigour, F.; Durr, A.; Davoine, C. -S.; Guillot-Noel, L.; Heinzmann, A.; Coarelli, G.; Bonne, G.; Evangelista, T.; Allamand, V.; Nelson, I.; Yaou, R. B.; Metay, C.; Eymard, B.; Cohen, E.; Atalaia, A.; Stojkovic, T.; Macek, M.; Turnovec, M.; Thomasova, D.; Kremlikova, R. P.; Frankova, V.; Havlovicova, M.; Kremlik, V.; Parkinson, H.; Keane, T.; Spalding, D.; Senf, A.; Robinson, P.; Danis, D.; Robert, G.; Costa, A.; Patch, C.; Hanna, M.; Reilly, M.; Vandrovcova, J.; Muntoni, F.; Zaharieva, I.; Sarkozy, A.; de Jonghe, P.; Nigro, V.; Banfi, S.; Torella, A.; Musacchia, F.; Piluso, G.; Ferlini, A.; Selvatici, R.; Rossi, R.; Neri, M.; Aretz, S.; Spier, I.; Sommer, A. K.; Peters, S.; Oliveira, C.; Pelaez, J. G.; Matos, A. R.; Jose, C. S.; Ferreira, M.; Gullo, I.; Fernandes, S.; Garrido, L.; Ferreira, P.; Carneiro, F.; Swertz, M. A.; Johansson, L.; van der Velde, J. K.; van der Vries, G.; Neerincx, P. B.; Roelofs-Prins, D.; Kohler, S.; Metcalfe, A.; Verloes, A.; Drunat, S.; Rooryck, C.; Trimouille, A.; Castello, R.; Morleo, M.; Pinelli, M.; Varavallo, A.; De la Paz, M. P.; Sanchez, E. B.; Martin, E. L.; Delgado, B. M.; de la Rosa, F. J. A. G.; Ciolfi, A.; Dallapiccola, B.; Pizzi, S.; Radio, F. C.; Tartaglia, M.; Renieri, A.; Benetti, E.; Peterlin, B.; Herzog, R.; Pauly, M.; Osorio, A. N.; de Benito, D. N.; Thompson, R.; Polavarapu, K.; Beeson, D.; Cossins, J.; Cruz, P. M. R.; Hackman, P.; Johari, M.; Savarese, M.; Udd, B.; Capella, G.; Valle, L.; Holinski-Feder, E.; Laner, A.; Steinke-Lange, V.; Schrock, E.; Rump, A.
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EUROPEAN JOURNAL OF HUMAN GENETICS
Vol. 29, No. 9, pp: 1332-1336, Anno: 2021 |
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Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential in vitro Model for Rare Genetic Diseases
Falzarano, M. S.; Rossi, R.; Grilli, A.; Fang, M.; Osman, H.; Sabatelli, P.; Antoniel, M.; Lu, Z.; Li, W.; Selvatici, R.; Al-Khalili, C.; Gualandi, F.; Bicciato, S.; Torelli, S.; Ferlini, A.
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FRONTIERS IN PHYSIOLOGY
Vol. 12, No. 1, pp: 716471-1-716471-10, Anno: 2021 |
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Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
Matalonga, L.; Hernandez-Ferrer, C.; Piscia, D.; Cohen, E.; Cuesta, I.; Danis, D.; Denomme-Pichon, A. -S.; Duffourd, Y.; Gilissen, C.; Johari, M.; Laurie, S.; Li, S.; Matalonga, L.; Nelson, I.; Peters, S.; Paramonov, I.; Prasanth, S.; Robinson, P.; Sablauskas, K.; Savarese, M.; Steyaert, W.; van der Velde, J. K.; Vitobello, A.; Schule, R.; Synofzik, M.; Topf, A.; Vissers, L. E. L. M.; de Voer, R.; Aretz, S.; Capella, G.; de Voer, R. M.; Evans, G.; Pelaez, J. G.; Holinski-Feder, E.; Hoogerbrugge, N.; Laner, A.; Oliveira, C.; Rump, A.; Schrock, E.; Sommer, A. K.; Steinke-Lange, V.; Paske, I.; Tischkowitz, M.; Valle, L.; Banka, S.; Benetti, E.; Casari, G.; Ciolfi, A.; Clayton-Smith, J.; Dallapiccola, B.; de Boer, E.; Denomme-Pichon, A. -S.; Ellwanger, K.; Faivre, L.; Graessner, H.; Haack, T. B.; Hammarsjo, A.; Havlovicova, M.; Hoischen, A.; Hugon, A.; Jackson, A.; Kleefstra, T.; Lindstrand, A.; Lopez-Martin, E.; Macek, M.; Morleo, M.; Nigro, V.; Nordgren, A.; Pettersson, M.; Pinelli, M.; Pizzi, S.; Posada, M.; Radio, F. C.; Renieri, A.; Rooryck, C.; Ryba, L.; Schwarz, M.; Tartaglia, M.; Thauvin, C.; Torella, A.; Trimouille, A.; Verloes, A.; Vissers, L.; Vitobello, A.; Votypka, P.; Vyshka, K.; Zurek, B.; Baets, J.; Beijer, D.; Bonne, G.; Cohen, E.; Cossins, J.; Evangelista, T.; Hackman, P.; Hanna, M. G.; Horvath, R.; Houlden, H.; Lau, J.; Lochmuller, H.; Macken, W. L.; Musacchia, F.; Nascimento, A.; Natera-de Benito, D.; Nigro, V.; Piluso, G.; Pini, V.; Pitceathly, R. D. S.; Polavarapu, K.; Cruz, P. M. R.; Sarkozy, A.; Thompson, R.; Udd, B.; Van de Vondel, L.; Vandrovcova, J.; Zaharieva, I.; Baets, J.; Balicza, P.; Chinnery, P.; Durr, A.; Haack, T.; Hengel, H.; Houlden, H.; Kamsteeg, E. -J.; Kamsteeg, C.; Lohmann, K.; Macaya, A.; Marce-Grau, A.; Maver, A.; Molnar, J.; Munchau, A.; Peterlin, B.; Riess, O.; Schols, L.; Schule-Freyer, R.; Stevanin, G.; Synofzik, M.; Timmerman, V.; van de Warrenburg, B.; van Os, N.; Wayand, M.; Wilke, C.; Tonda, R.; Laurie, S.; Fernandez-Callejo, M.; Pico, D.; Garcia-Linares, C.; Papakonstantinou, A.; Corvo, A.; Joshi, R.; Diez, H.; Gut, I.; Hoischen, A.; Graessner, H.; Beltran, S.; Haack, T. B.; Graessner, H.; Zurek, B.; Ellwanger, K.; Ossowski, S.; Demidov, G.; Sturm, M.; Schulze-Hentrich, J. M.; Schule, R.; Kessler, C.; Wayand, M.; Schols, L.; Hengel, H.; Heutink, P.; Brunner, H.; Scheffer, H.; Hoogerbrugge, N.; 't Hoen, P. A. C.; Steyaert, W.; Sablauskas, K.; Kamsteeg, E. -J.; van de Warrenburg, B.; te Paske, I.; Janssen, E.; Steehouwer, M.; Yaldiz, B.; Brookes, A. J.; Veal, C.; Gibson, S.; Wadsley, M.; Mehtarizadeh, M.; Riaz, U.; Warren, G.; Dizjikan, F. Y.; Shorter, T.; Straub, V.; Bettolo, C. M.; Specht, S.; Clayton-Smith, J.; Banka, S.; Alexander, E.; Jackson, A.; Faivre, L.; Thauvin, C.; Duffourd, Y.; Tisserant, E.; Bruel, A. -L.; Peyron, C.; Pelissier, A.; Beltran, S.; Gut, I. G.; Laurie, S.; Piscia, D.; Matalonga, L.; Papakonstantinou, A.; Bullich, G.; Corvo, A.; Garcia, C.; Fernandez-Callejo, M.; Hernandez, C.; Pico, D.; Paramonov, I.; Lochmuller, H.; Gumus, G.; Bros-Facer, V.; Rath, A.; Hanauer, M.; Olry, A.; Lagorce, D.; Havrylenko, S.; Izem, K.; Rigour, F.; Durr, A.; Davoine, C. -S.; Guillot-Noel, L.; Heinzmann, A.; Coarelli, G.; Bonne, G.; Evangelista, T.; Allamand, V.; Nelson, I.; Yaou, R. B.; Metay, C.; Eymard, B.; Cohen, E.; Atalaia, A.; Stojkovic, T.; Macek, M.; Turnovec, M.; Thomasova, D.; Kremlikova, R. P.; Frankova, V.; Havlovicova, M.; Kremlik, V.; Parkinson, H.; Keane, T.; Spalding, D.; Senf, A.; Danis, D.; Robert, G.; Costa, A.; Patch, C.; Hanna, M.; Houlden, H.; Reilly, M.; Vandrovcova, J.; Muntoni, F.; Sarkozy, A.; Timmerman, V.; Baets, J.; Van de Vondel, L.; Beijer, D.; de Jonghe, P.; Banfi, S.; Torella, A.; Ferlini, A.; Selvatici, R.; Rossi, R.; Neri, M.; Aretz, S.; Spier, I.; Peters, S.; Oliveira, C.; Pelaez, J. G.; Matos, A. R.; Jose, C. S.; Ferreira, M.; Gullo, I.; Fernandes, S.; Garrido, L.; Ferreira, P.; Carneiro, F.; Swertz, M. A.; Johansson, L.; van der Vries, G.; Neerincx, P. B.; Roelofs-Prins, D.; Kohler, S.; Metcalfe, A.; Rooryck, C.; Trimouille, A.; Castello, R.; Morleo, M.; Varavallo, A.; De la Paz, M. P.; Sanchez, E. B.; Martin, E. L.; Delgado, B. M.; de la Rosa, F. J. A. G.; Radio, F. C.; Tartaglia, M.; Renieri, A.; Benetti, E.; Balicza, P.; Molnar, M. J.; Maver, A.; Peterlin, B.; Munchau, A.; Lohmann, K.; Herzog, R.; Pauly, M.; Macaya, A.; Marce-Grau, A.; Osorio, A. N.; de Benito, D. N.; Lochmuller, H.; Thompson, R.; Polavarapu, K.; Beeson, D.; Cossins, J.; Cruz, P. M. R.; Hackman, P.; Udd, B.; Capella, G.; Valle, L.; Holinski-Feder, E.; Laner, A.; Steinke-Lange, V.; Schrock, E.; Rump, A.
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EUROPEAN JOURNAL OF HUMAN GENETICS
Vol. 29, No. 9, pp: 1337-1347, Anno: 2021 |
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Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
Zurek, B.; Ellwanger, K.; Vissers, L. E. L. M.; Schule, R.; Synofzik, M.; Topf, A.; de Voer, R. M.; Laurie, S.; Matalonga, L.; Gilissen, C.; Ossowski, S.; 't Hoen, P. A. C.; Vitobello, A.; Schulze-Hentrich, J. M.; Riess, O.; Brunner, H. G.; Brookes, A. J.; Rath, A.; Bonne, G.; Gumus, G.; Verloes, A.; Hoogerbrugge, N.; Evangelista, T.; Harmuth, T.; Swertz, M.; Spalding, D.; Hoischen, A.; Beltran, S.; Graessner, H.; Haack, T. B.; Zurek, B.; Ellwanger, K.; Demidov, G.; Sturm, M.; Kessler, C.; Wayand, M.; Wilke, C.; Traschutz, A.; Schols, L.; Hengel, H.; Heutink, P.; Brunner, H.; Scheffer, H.; Steyaert, W.; Sablauskas, K.; de Voer, R. M.; Kamsteeg, E. -J.; van de Warrenburg, B.; van Os, N.; te Paske, I.; Janssen, E.; de Boer, E.; Steehouwer, M.; Yaldiz, B.; Kleefstra, T.; Veal, C.; Gibson, S.; Wadsley, M.; Mehtarizadeh, M.; Riaz, U.; Warren, G.; Dizjikan, F. Y.; Shorter, T.; Straub, V.; Bettolo, C. M.; Specht, S.; Clayton-Smith, J.; Banka, S.; Alexander, E.; Jackson, A.; Faivre, L.; Thauvin, C.; Vitobello, A.; Denomme-Pichon, A. -S.; Duffourd, Y.; Tisserant, E.; Bruel, A. -L.; Peyron, C.; Pelissier, A.; Beltran, S.; Gut, I. G.; Laurie, S.; Piscia, D.; Matalonga, L.; Papakonstantinou, A.; Bullich, G.; Corvo, A.; Garcia, C.; Fernandez-Callejo, M.; Hernandez, C.; Pico, D.; Paramonov, I.; Lochmuller, H.; Gumus, G.; Bros-Facer, V.; Hanauer, M.; Olry, A.; Lagorce, D.; Havrylenko, S.; Izem, K.; Rigour, F.; Stevanin, G.; Durr, A.; Davoine, C. -S.; Guillot-Noel, L.; Heinzmann, A.; Coarelli, G.; Allamand, V.; Nelson, I.; Yaou, R. B.; Metay, C.; Eymard, B.; Cohen, E.; Atalaia, A.; Stojkovic, T.; Macek, M.; Turnovec, M.; Thomasova, D.; Kremlikova, R. P.; Frankova, V.; Havlovicova, M.; Kremlik, V.; Parkinson, H.; Keane, T.; Senf, A.; Robinson, P.; Danis, D.; Robert, G.; Costa, A.; Patch, C.; Hanna, M.; Houlden, H.; Reilly, M.; Vandrovcova, J.; Muntoni, F.; Zaharieva, I.; Sarkozy, A.; Timmerman, V.; Baets, J.; Van de Vondel, L.; Beijer, D.; de Jonghe, P.; Nigro, V.; Banfi, S.; Torella, A.; Musacchia, F.; Piluso, G.; Ferlini, A.; Selvatici, R.; Rossi, R.; Neri, M.; Aretz, S.; Spier, I.; Sommer, A. K.; Peters, S.; Oliveira, C.; Pelaez, J. G.; Matos, A. R.; Jose, C. S.; Ferreira, M.; Gullo, I.; Fernandes, S.; Garrido, L.; Ferreira, P.; Carneiro, F.; Swertz, M. A.; Johansson, L.; van der Velde, J. K.; van der Vries, G.; Neerincx, P. B.; Roelofs-Prins, D.; Kohler, S.; Metcalfe, A.; Verloes, A.; Drunat, S.; Rooryck, C.; Trimouille, A.; Castello, R.; Morleo, M.; Pinelli, M.; Varavallo, A.; De la Paz, M. P.; Sanchez, E. B.; Martin, E. L.; Delgado, B. M.; de la Rosa, F. J. A. G.; Ciolfi, A.; Dallapiccola, B.; Pizzi, S.; Radio, F. C.; Tartaglia, M.; Renieri, A.; Benetti, E.; Balicza, P.; Molnar, M. J.; Maver, A.; Peterlin, B.; Munchau, A.; Lohmann, K.; Herzog, R.; Pauly, M.; Macaya, A.; Marce-Grau, A.; Osorio, A. N.; de Benito, D. N.; Lochmuller, H.; Thompson, R.; Polavarapu, K.; Beeson, D.; Cossins, J.; Cruz, P. M. R.; Hackman, P.; Johari, M.; Savarese, M.; Udd, B.; Horvath, R.; Capella, G.; Valle, L.; Holinski-Feder, E.; Laner, A.; Steinke-Lange, V.; Schrock, E.; Rump, A.
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EUROPEAN JOURNAL OF HUMAN GENETICS
Vol. 29, No. 9, pp: 1325-1331, Anno: 2021 |
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Chitosan-Shelled Nanobubbles Irreversibly Encapsulate Morpholino Conjugate Antisense Oligonucleotides and Are Ineffective for Phosphorodiamidate Morpholino-Mediated Gene Silencing of DUX4
Falzarano, Maria Sofia; Argenziano, Monica; Marsollier, Anne Chalotte; Mariot, Virginie; Rossi, Davide; Selvatici, Rita; Dumonceaux, Julie; Cavalli, Roberta; Ferlini, Alessandra
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NUCLEIC ACID THERAPEUTICS
Vol. 31, No. 3, pp: 201-207, Anno: 2021 |
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Functional characterization of two novel mutations in scn5a associated with brugada syndrome identified in Italian patients
Balla, C.; Conte, E.; Selvatici, R.; Marsano, R. M.; Gerbino, A.; Farne, M.; Blunck, R.; Vitali, F.; Armaroli, A.; Brieda, A.; Liantonio, A.; De Luca, A.; Ferlini, A.; Rapezzi, C.; Bertini, M.; Gualandi, F.; Imbrici, P.
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INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Vol. 22, No. 12, pp: 6513-1-6513-17, Anno: 2021 |
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Identification of a new mutation in RSK2, the gene for coffin–lowry syndrome (CLS), in two related patients with mild and atypical phenotypes
Di Stazio, Mariateresa; Bigoni, Stefania; Iuso, Nicola; Vuch, Josef; Selvatici, Rita; Ulivi, Sheila; Adamo d’Adamo, Pio
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BRAIN SCIENCES
Vol. 11, No. 8, pp: 1105-1-1105-8, Anno: 2021 |
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Methylation of SERPINA1 gene promoter may predict chronic obstructive pulmonary disease in patients affected by acute coronary syndrome
Rotondo, J. C.; Aquila, G.; Oton-Gonzalez, L.; Selvatici, R.; Rizzo, P.; De Mattei, M.; Pavasini, R.; Tognon, M.; Campo, G. C.; Martini, F.
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CLINICAL EPIGENETICS
Vol. 13, No. 1, pp: 79-1-79-11, Anno: 2021 |
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Brugada ECG pattern in hypertrophic cardiomyopathy: Brugada phenocopy or overlapping syndrome?
De Maria, E.; Borghi, A.; Tonelli, L.; Selvatici, R.; Cappelli, S.; Gualandi, F.
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JOURNAL OF ELECTROCARDIOLOGY
Vol. 69, No. 1, pp: 132-135, Anno: 2021 |
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