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Titolo Data di pubblicazione Autore(i) File Abstract
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 1-gen-2024 Demidov, German; Yaldiz, Burcu; Garcia-Pelaez, José; de Boer, Elke; Schuermans, Nika; Van de Vondel, Liedewei; Paramonov, Ida; Johansson, Lennart F.; Musacchia, Francesco; Benetti, Elisa; Bullich, Gemma; Sablauskas, Karolis; Beltran, Sergi; Gilissen, Christian; Hoischen, Alexander; Ossowski, Stephan; de Voer, Richarda; Lohmann, Katja; Oliveira, Carla; Topf, Ana; Vissers, Lisenka E. L. M.; Null, Null; 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 -
HLA-DPB1*13:01 associates with enhanced, and KIR2DS4*001 with diminished protection from developing severe COVID-19 1-gen-2024 Farias, Ticiana D J; Brugiapaglia, Silvia; Croci, Susanna; Magistroni, Paola; Curcio, Claudia; Zguro, Kristina; Fallerini, Chiara; Fava, Francesca; Pettini, Francesco; Kichula, Katherine M; Pollock, Nicholas R; Font-Porterias, Neus; Palmer, William H; Marin, Wesley M; Baldassarri, Margherita; Bruttini, Mirella; Hollenbach, Jill A; Hendricks, Audrey E; Meloni, Ilaria; Novelli, Francesco; Renieri, Alessandra; Furini, Simone; Norman, Paul J; Amoroso, Antonio -
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 1-gen-2024 Minnai, Francesca; Biscarini, Filippo; Esposito, Martina; Dragani, Tommaso A.; Bujanda, Luis; Rahmouni, Souad; Alarcón-Riquelme, Marta E.; Bernardo, David; Carnero-Montoro, Elena; Buti, Maria; Zeberg, Hugo; Asselta, Rosanna; Romero-Gómez, Manuel; Fernandez-Cadenas, Israel; Fallerini, Chiara; Zguro, Kristina; Croci, Susanna; Baldassarri, Margherita; Bruttini, Mirella; Furini, Simone; Renieri, Alessandra; Colombo, Francesca; Mari, Francesca; Daga, Sergio; Meloni, Ilaria; Brunelli, Giulia; Lista, Mirjam; Maffeo, Debora; Pasquinelli, Elena; Antolini, Enrica; Basso, Simona Letizia; Minetto, Samantha; Rollo, Giulia; Rina, Angela; Rozza, Martina; Tita, Rossella; Mencarelli, Maria Antonietta; Lo Rizzo, Caterina; Pinto, ANNA MARIA; Ariani, Francesca; Montagnani, Francesca; Tumbarello, Mario; Rancan, Ilaria; Fabbiani, Massimiliano; Cameli, Paolo; Bennett, David; Anedda, Federico; Marcantonio, Simona; Scolletta, Sabino; Franchi, Federico; Mazzei, MARIA ANTONIETTA; Guerrini, Susanna; Conticini, Edoardo; Cantarini, Luca; Frediani, Bruno; Tacconi, Danilo; Spertilli Raffaelli, Chiara; Emiliozzi, Arianna; Feri, Marco; Donati, Alice; Scala, Raffaele; Guidelli, Luca; Spargi, Genni; Corridi, Marta; Nencioni, Cesira; Croci, Leonardo; Caldarelli, Gian Piero; Romani, Davide; Piacentini, Paolo; Bandini, Maria; Desanctis, Elena; Cappelli, Silvia; Canaccini, Anna; Verzuri, Agnese; Anemoli, Valentina; Ognibene, Agostino; Lorubbio, Maria; Pancrazzi, Alessandro; Vaghi, Massimo; D 'Arminio Monforte, Antonella; Miraglia, Federica Gaia; Mondelli, Mario U.; Mantovani, Stefania; Bruno, Raffaele; Vecchia, Marco; Maffezzoni, Marcello; Martinelli, Enrico; Girardis, Massimo; Busani, Stefano; Venturelli, Sophie; Cossarizza, Andrea; Antinori, Andrea; Vergori, Alessandra; Rusconi, Stefano; Siano, Matteo; Gabrieli, Arianna; Riva, Agostino; Francisci, Daniela; Schiaroli, Elisabetta; Pallotto, Carlo; Parisi, Saverio Giuseppe; Basso, Monica; Panese, Sandro; Baratti, Stefano; Scotton, Pier Giorgio; Andretta, Francesca; Giobbia, Mario; Scaggiante, Renzo; Gatti, Francesca; Castelli, Francesco; Quiros-Roldan, Eugenia; Degli Antoni, Melania; Zanella, Isabella; Della Monica, Matteo; Piscopo, Carmelo; Capasso, Mario; Russo, Roberta; Andolfo, Immacolata; Iolascon, Achille; Fiorentino, Giuseppe; Carella, Massimo; Castori, Marco; Merla, Giuseppe; Maria, Gabriella; Squeo, ; Aucella, Filippo; Raggi, Pamela; Perna, Rita; Bassetti, Matteo; Di Biagio, Antonio; Sanguinetti, Maurizio; Masucci, Luca; Guarnaccia, Alessandra; Valente, Serafina; Di Florio, Alex; Mandala', Marco; Giorli, Alessia; Salerni, Lorenzo; Zucchi, Patrizia; Parravicini, Pierpaolo; Menatti, Elisabetta; Trotta, Tullio; Giannattasio, Ferdinando; Coiro, Gabriella; Lacerenza, Gianluca; Mussini, Cristina; Tavecchia, Luisa; Crotti, Lia; Parati, Gianfranco; Menè, Roberto; Sanarico, Maurizio; Gori, Marco; Raimondi, Francesco; Stella, Alessandra; Biscarini, Filippo; Bachetti, Tiziana; La Rovere, Maria Teresa; Bussotti, Maurizio; Ludovisi, Serena; Capitani, Katia; Dei, Simona; Ravaglia, Sabrina; Giliberti, Annarita; Gori, Giulia; Artuso, Rosangela; Andreucci, Elena; Perrella, Antonio; Bianchi, Francesco; Bergomi, Paola; Catena, Emanuele; Colombo, Riccardo; Luchi, Sauro; Morelli, Giovanna; Petrocelli, Paola; Iacopini, Sarah; Modica, Sara; Baroni, Silvia; Micheli, Giulia; Falcone, Marco; Urso, Donato; Tiseo, Giusy; Matucci, Tommaso; Pulcinelli, Alice; Grassi, Davide; Ferri, Claudio; Marinangeli, Franco; Brancati, Francesco; Vincenti, Antonella; Borgo, Valentina; Lombardi, Stefania; Lenzi, Mirco; Di Pietro, Massimo Antonio; Attala, Letizia; Costa, Cecilia; Gabbuti, Andrea; Bellucci, Alessio; Colaneri, Marta; Casprini, Patrizia; Pomara, Cristoforo; Esposito, Massimiliano; Leoncini, Roberto; Cirianni, Michele; Galasso, Lucrezia; Bellini, Marco Antonio; Gabbi, Chiara; Picchiotti, Nicola; Pelo, Elisabetta; Minuti, Barbara; Gerundino, Francesca; Lazzeri, Chiara; Vecchi, Arianna; Bianchi, Leila; Venturini, Elisabetta; Montagnani, Carlotta; Chiappini, Elena; Beltrami, Cristina; Galli, Luisa -
An interconnected data infrastructure to support large-scale rare disease research 1-gen-2024 Johansson, Lennart F.; Laurie, Steve; Spalding, Dylan; Gibson, Spencer; Ruvolo, David; Thomas, Coline; Piscia, Davide; De Andrade, Fernanda; Been, Gerieke; Bijlsma, Marieke; Brunner, Han; Cimerman, Sandi; Dizjikan, Farid Yavari; Ellwanger, Kornelia; Fernandez, Marcos; Freeberg, Mallory; Van De Geijn, Gert-Jan; Kanninga, Roan; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Neerincx, Pieter; Ossowski, Stephanj; Rath, Ana; Roelofs-Prins, Dieuwke; Stok-Benjamins, Marloes; Van Der Velde, K. Joeri; Veal, Colin; Van Der Vries, Gerben; Wadsley, Marc; Warren, Gregory; Zurek, Birte; Keane, Thomas; Graessner, Holm; Beltran, Sergi; Swertz, Morris A; Brookes, Anthony J.; Riess, Olaf; Haack, Tobias B.; Demidov, German; Sturm, Marc; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Xu, Jishu; Kessler, Christoph; Kellner, Melanie; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Schöls, Ludger; Hengel, Holger; Lerche, Holger; Kegele, Josua; Heutink, Peter; Scheffer, Hans; Hoogerbrugge, Nicoline; Hoischen, Alexander; 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; Te Paske, Iris; Janssen, Erik; De Boer, Elke; Steehouwer, Marloes; Yaldiz, Burcu; Kleefstra, Tjitske; Riaz, Umar; Warren, Greg; 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; Gut, Ivo Glynne; Laurie, Steven; Matalonga, Leslie; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo, Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Paramonov, Ida; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; 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; Dolealová, Pavla; Parkinson, Helen; 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; Garcia-Pelaez, Jose; Barbosa-Matos, Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Van Der Velde, Joeri K.; Abbott, Kristin M.; Frederikse, Wilhemina S. Kerstjens; Zonneveld-Huijssoon, Eveline; 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, Estrellalópez; 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; 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 Nazll; 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, Isabell; 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 -
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development 1-gen-2024 Mazel, Benoit; Delanne, Julian; Garde, Aurore; Racine, Caroline; Bruel, Ange-Line; Duffourd, Yannis; Lopergolo, Diego; Santorelli, Filippo Maria; Marchi, Viviana; Pinto, Anna Maria; Mencarelli, Maria Antonietta; Canitano, Roberto; Valentino, Floriana; Papa, Filomena Tiziana; Fallerini, Chiara; Mari, Francesca; Renieri, Alessandra; Munnich, Arnold; Niclass, Tanguy; Le Guyader, Gwenaël; Thauvin-Robinet, Christel; Philippe, Christophe; Faivre, Laurence -
Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response 1-gen-2024 Esposito, Martina; Minnai, Francesca; Copetti, Massimiliano; Miscio, Giuseppe; Perna, Rita; Piepoli, Ada; De Vincentis, Gabriella; Benvenuto, Mario; D'Addetta, Paola; Croci, Susanna; Baldassarri, Margherita; Bruttini, Mirella; Fallerini, Chiara; Brugnoni, Raffaella; Cavalcante, Paola; Baggi, Fulvio; Corsini, Elena Maria Grazia; Ciusani, Emilio; Andreetta, Francesca; Dragani, Tommaso A; Fratelli, Maddalena; Carella, Massimo; Mantegazza, Renato E; Renieri, Alessandra; Colombo, Francesca -
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes 1-gen-2024 German, Demidov; Steven, Laurie; Annalaura, Torella; Giulio, Piluso; Marcello, Scala; Manuela, Morleo; Vincenzo, Nigro; Holm, Graessner; Banka, ; Consortium, Solve-RD; Siddharth, ; Katja, Lohmann; Stephan, Ossowski; Consortium: Alfons Macaya, Solve-RD; Pérez-Dueñas, Belén; Jackson, Adam; Stevanin, Giovanni; De Sainte Agathe, Jean-Madeleine; Havlovicová, Markéta; Horvath, Rita; Pinelli, Michele; H Van Os, Nienke J; C Van De Warrenburg, Bart P; Denommé-Pichon, Anne-Sophie; Savarese, Marco; Johari, Mridul; Dallapiccola, Bruno; Tartaglia, Marco; G Pauly, Martje; Katharina Sommer, Anna; B Haack, Tobias; Töpf, Ana; Didier, Lacombe; Fallerini, Chiara; Renieri, Alessandra; F Chinnery, Patrick; Natera-de Benito, Daniel; Nascimento, Andres; Trimouille, Aurélien; Munell, Francina; Marcé-Grau, Anna; Yaou Rabah, Ben; Bonne, Gisèle; Van De Vondel, Liedewei -
Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features 1-gen-2024 Martelloni, Gabriele; Turchi, Alessio; Fallerini, Chiara; Degl'Innocenti, Andrea; Baldassarri, Margherita; Olmi, Simona; Furini, Simone; Renieri, Alessandra; GEN-COVID Multicenter study, ; Meloni, Ilaria; Fabbiani, Massimiliano -
Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells 1-gen-2024 Daga, Sergio; Donati, Francesco; Capitani, Katia; Croci, Susanna; Tita, Rossella; Giliberti, Annarita; Valentino, Floriana; Benetti, Elisa; Fallerini, Chiara; Niccheri, Francesca; Baldassarri, Margherita; Mencarelli, Maria Antonietta; Frullanti, Elisa; Furini, Simone; Conticello, Silvestro Giovanni; Renieri, Alessandra; Pinto, Anna Maria -
Corrigendum: Spondyloocular syndrome: A novel XYLT2 variant with description of the neonatal phenotype 1-gen-2023 Doddato, Gabriella; Fabbiani, Alessandra; Fallerini, Chiara; Bruttini, Mirella; Hadjistilianou, Theodora; Landi, Martino; Coradeschi, Caterina; Grosso, Salvatore; Tomasini, Barbara; Mencarelli, Maria Antonietta; Renieri, Alessandra; Ariani, Francesca -
Heterozygosity for Neuronal Ceroid Lipofuscinosis predisposes to Bipolar Disorder 1-gen-2023 Privitera, Flavia; Trusso, Maria Allegra; Valentino, Floriana; Doddato, Gabriella; Fallerini, Chiara; Brunelli, Giulia; D'Aurizio, Romina; Furini, Simone; Goracci, Arianna; Fagiolini, Andrea; Mari, Francesca; Renieri, Alessandra; Ariani, Francesca -
Correction: SELP Asp603Asn and severe thrombosis in COVID-19 males 1-gen-2023 Fallerini, Chiara; Daga, Sergio; Benetti, Elisa; Picchiotti, Nicola; Zguro, Kristina; Catapano, Francesca; Baroni, Virginia; Lanini, Simone; Bucalossi, Alessandro; Marotta, Giuseppe; Colombo, Francesca; Baldassarri, Margherita; Fava, Francesca; Beligni, Giada; Di Sarno, Laura; Alaverdian, Diana; Palmieri, Maria; Croci, Susanna; Isidori, Andrea M.; Furini, Simone; Frullanti, Elisa; Renieri, Alessandra; Mari, Francesca -
Author Correction: Assessment of haptoglobin alleles in autism spectrum disorders 1-gen-2023 Cupaioli, Francesca Anna; Mosca, Ettore; Magri, Chiara; Gennarelli, Massimo; Moscatelli, Marco; Raggi, Maria Elisabetta; Landini, Martina; Galluccio, Nadia; Villa, Laura; Bonfanti, Arianna; Renieri, Alessandra; Fallerini, Chiara; Minelli, Alessandra; Marabotti, Anna; Milanesi, Luciano; Fasano, Alessio; Mezzelani, Alessandra -
Effects of the Rho GTPase-activating toxin CNF1 on fibroblasts derived from Rett syndrome patients: A pilot study 1-gen-2023 Cittadini, Camilla; Germinario, Elena Angela Pia; Maroccia, Zaira; Cosentino, Livia; Maselli, Valeria; Gambardella, Lucrezia; Giambenedetti, Massimo; Guidotti, Marco; Travaglione, Sara; Fallerini, Chiara; Renieri, Alessandra; Marcillo, David Israel Escobar; Ricceri, Laura; Fortini, Paola; De Filippis, Bianca; Fiorentini, Carla; Fabbri, Alessia -
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 -
Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors 1-gen-2023 Serio, Viola Bianca; Palmieri, Maria; Innamorato, Simona; Loberti, Lorenzo; Fallerini, Chiara; Ariani, Francesca; Antolini, Enrica; Covarelli, Jasmine; Vaghi, Massimo; Frullanti, Elisa; Renieri, Alessandra; Pinto, Anna Maria -
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 1-gen-2023 Bergantini, L; Baldassarri, M; D’Alessandro, M; Brunelli, G; Fabbri, G; Zguro, K; Degl’Innocenti, A; Mari, F; Daga, S; Meloni, I; Bruttini, M; Croci, S; Lista, M; Maffeo, D; Pasquinelli, E; Serio, V. B; Antolini, E; Basso, S. L; Minetto, S; Tita, R; Mencarelli, M. A; Rizzo, C. L; Pinto, A. M; Ariani, F; Montagnani, F; Tumbarello, M; Rancan, I; Fabbiani, M; Cameli, P; Bennett, D; Anedda, F; Marcantonio, S; Scolletta, S; Franchi, F; Mazzei, M. A; Guerrini, S; Conticini, E; Cantarini, L; Frediani, B; Tacconi, D; Raffaelli, C. S; Emiliozzi, A; Feri, M; Donati, A; Scala, R; Guidelli, L; Spargi, G; Corridi, M; Nencioni, C; Croci, L; Caldarelli, G. P; Romani, D; Piacentini, P; Bandini, M; Desanctis, E; Cappelli, S; Canaccini, A; Verzuri, A; Anemoli, V; Pisani, M; Ognibene, A; Lorubbio, M; Pancrazzi, A; Vaghi, M; Monforte, A. D. A; Miraglia, F. G; Mondelli, M. U; Mantovani, S; Bruno, R; Vecchia, M; Maffezzoni, M; Martinelli, E; Girardis, M; Busani, S; Venturelli, S; Cossarizza, A; Antinori, A; Vergori, A; Rusconi, S; Siano, M; Gabrieli, A; Riva, A; Francisci, D; Schiaroli, E; Pallotto, C; Parisi, S. G; Basso, M; Panese, S; Baratti, S; Scotton, P. G; Andretta, F; Giobbia, M; Scaggiante, R; Gatti, F; Castelli, F; Quiros-Roldan, E; Antoni, M. D; Zanella, I; Monica, M; Piscopo, C; Capasso, M; Russo, R; Andolfo, I; Iolascon, A; Fiorentino, G; Carella, M; Castori, M; Merla, G; Squeo, G. M; Aucella, F; Raggi, P; Perna, R; Bassetti, M; Di Biagio, A; Sanguinetti, M; Masucci, L; Guarnaccia, A; Valente, S; Di Florio, A; Mandalà, M; Giorli, A; Salerni, L; Zucchi, P; Parravicini, P; Menatti, E; Trotta, T; Giannattasio, F; Coiro, G; Lena, F; Lacerenza, G; Mussini, C; Tavecchia, L; Crotti, L; Parati, G; Menè, R; Sanarico, M; Gori, M; Raimondi, F; Stella, A; Biscarini, F; Bachetti, T; La Rovere, M. T; Bussotti, M; Ludovisi, S; Capitani, K; Dei, S; Ravaglia, S; Giliberti, A; Gori, G; Artuso, R; Andreucci, E; Pagliazzi, A; Fiorentini, E; Perrella, A; Bianchi, F; Bergomi, P; Catena, E; Colombo, R; Luchi, S; Morelli, G; Petrocelli, P; Iacopini, S; Modica, S; Baroni, S; Micheli, G; Falcone, M; Urso, D; Tiseo, G; Matucci, T; Grassi, D; Ferri, C; Marinangeli, F; Brancati, F; Vincenti, A; Borgo, V; Lombardi, S; Lenzi, M; Di Pietro, M. A; Vichi, F; Romanin, B; Attala, L; Costa, C; Gabbuti, A; Bellucci, A; Colaneri, M; Casprini, P; Pomara, C; Esposito, M; Leoncini, R; Cirianni, M; Galasso, L; Bellini, M. A; Gabbi, C; Picchiotti, N; Furini, S; Fallerini, C; Bargagli, E; Renieri, A; GEN-COVID Multicenter, Study -
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 -
CYP19A1 mediates severe SARS-CoV-2 disease outcome in males 1-gen-2023 Stanelle-Bertram, Stephanie; Beck, Sebastian; Mounogou, Nancy Kouassi; Schaumburg, Berfin; Stoll, Fabian; Al Jawazneh, Amirah; Schmal, Zoé; Bai, Tian; Zickler, Martin; Beythien, Georg; Becker, Kathrin; de la Roi, Madeleine; Heinrich, Fabian; Schulz, Claudia; Sauter, Martina; Krasemann, Susanne; Lange, Philine; Heinemann, Axel; van Riel, Debby; Leijten, Lonneke; Bauer, Lisa; van den Bosch, Thierry P P; Lopuhaä, Boaz; Busche, Tobias; Wibberg, Daniel; Schaudien, Dirk; Goldmann, Torsten; Lüttjohann, Anna; Ruschinski, Jenny; Jania, Hanna; Müller, Zacharias; Pinho Dos Reis, Vinicius; Krupp-Buzimkic, Vanessa; Wolff, Martin; Fallerini, Chiara; Baldassarri, Margherita; Furini, Simone; Norwood, Katrina; Käufer, Christopher; Schützenmeister, Nina; von Köckritz-Blickwede, Maren; Schroeder, Maria; Jarczak, Dominik; Nierhaus, Axel; Welte, Tobias; Kluge, Stefan; Mchardy, Alice C; Sommer, Frank; Kalinowski, Jörn; Krauss-Etschmann, Susanne; Richter, Franziska; von der Thüsen, Jan; Baumgärtner, Wolfgang; Klingel, Karin; Ondruschka, Benjamin; Renieri, Alessandra; Gabriel, Gülsah -
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism 1-gen-2022 Fu, Jack M; Satterstrom, F Kyle; Peng, Minshi; Brand, Harrison; Collins, Ryan L; Dong, Shan; Wamsley, Brie; Klei, Lambertus; Wang, Lily; Hao, Stephanie P; Stevens, Christine R; Cusick, Caroline; Babadi, Mehrtash; Banks, Eric; Collins, Brett; Dodge, Sheila; Gabriel, Stacey B; Gauthier, Laura; Lee, Samuel K; Liang, Lindsay; Ljungdahl, Alicia; Mahjani, Behrang; Sloofman, Laura; Smirnov, Andrey N; Barbosa, Mafalda; Betancur, Catalina; Brusco, Alfredo; Chung, Brian H Y; Cook, Edwin H; Cuccaro, Michael L; Domenici, Enrico; Ferrero, Giovanni Battista; Gargus, J Jay; Herman, Gail E; Hertz-Picciotto, Irva; Maciel, Patricia; Manoach, Dara S; Passos-Bueno, Maria Rita; Persico, Antonio M; Renieri, Alessandra; Sutcliffe, James S; Tassone, Flora; Trabetti, Elisabetta; Campos, Gabriele; Cardaropoli, Simona; Carli, Diana; Chan, Marcus C Y; Fallerini, Chiara; Giorgio, Elisa; Girardi, Ana Cristina; Hansen-Kiss, Emily; Lee, So Lun; Lintas, Carla; Ludena, Yunin; Nguyen, Rachel; Pavinato, Lisa; Pericak-Vance, Margaret; Pessah, Isaac N; Schmidt, Rebecca J; Smith, Moyra; Costa, Claudia I S; Trajkova, Slavica; Wang, Jaqueline Y T; Yu, Mullin H C; Cutler, David J; De Rubeis, Silvia; Buxbaum, Joseph D; Daly, Mark J; Devlin, Bernie; Roeder, Kathryn; Sanders, Stephan J; Talkowski, Michael E -
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