Sfoglia per Autore
G5X Alport Syndrome mouse model hearing characterization for a future preclinic application of CRISPR/Cas9
2024-12-20 Giorli, Alessia; Lorenzini, Luca; Calzà, Laura; Renieri, Alessandra; Mandala', Marco
A new knockin mouse carrying the E364X patient mutation for CDKL5 deficiency disorder: neurological, behavioral and molecular profiling
2024-01-01 Quadalti, C.; Sannia, M.; Humphreys, N. E.; Baldassarro, V. A.; Gurgone, A.; Ascolani, M.; Zanella, L.; Giardino, L.; Gross, C. T.; Croci, S.; Meloni, I.; Giustetto, M.; Renieri, A.; Lorenzini, L.; Calzà, L.
MET is a new confirmed gene responsible for familial distal arthrogryposis
2024-01-01 Maffeo, Debora; Carrer, Anna; Rina, Angela; Adamo, Loredaria; Lo Rizzo, Caterina; Bruttini, Mirella; Renieri, Alessandra; Mari, Francesca
Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response
2024-01-01 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
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development
2024-01-01 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
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
2024-01-01 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
Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant
2024-01-01 Daga, Sergio; Loberti, Lorenzo; Rollo, Giulia; Adamo, Loredaria; Colavecchio, Olga Lorenza; Brunelli, Giulia; Zguro, Kristina; Tripodi, Sergio Antonio; Guarnieri, Andrea; Garosi, Guido; D'Aurizio, Romina; Ariani, Francesca; Tita, Rossella; Renieri, Alessandra; Pinto, Anna Maria
Orbital/ocular inflammatory involvement in VEXAS syndrome: Data from the international AIDA network VEXAS registry
2024-01-01 Vitale, Antonio; Caggiano, Valeria; Martin-Nares, Eduardo; Frassi, Micol; Dagna, Lorenzo; Hissaria, Pravin; Sfriso, Paolo; Hernández-Rodríguez, José; Ruiz-Irastorza, Guillermo; Monti, Sara; Tufan, Abdurrahman; Piga, Matteo; Giardini, Henrique A Mayrink; Lopalco, Giuseppe; Viapiana, Ombretta; De Paulis, Amato; Triggianese, Paola; Vitetta, Rosetta; de-la-Torre, Alejandra; Fonollosa, Alex; Caroni, Federico; Sota, Jurgen; Conticini, Edoardo; Sbalchiero, Jessica; Renieri, Alessandra; Casamassima, Giulia; Wiesik-Szewczyk, Ewa; Yildirim, Derya; Hinojosa-Azaola, Andrea; Crisafulli, Francesca; Franceschini, Franco; Campochiaro, Corrado; Tomelleri, Alessandro; Callisto, Alicia; Beecher, Mark; Bindoli, Sara; Baggio, Chiara; Gómez-Caverzaschi, Verónica; Pelegrín, Laura; Soto-Peleteiro, Adriana; Milanesi, Alessandra; Vasi, Ibrahim; Cauli, Alberto; Antonelli, Isabele Parente de Brito; Iannone, Florenzo; Bixio, Riccardo; Casa, Francesca Della; Mormile, Ilaria; Gurnari, Carmelo; Fiorenza, Alessia; Mejia-Salgado, Germán; Kawakami-Campos, Perla Ayumi; Ragab, Gaafar; Ciccia, Francesco; Ruscitti, Piero; Bocchia, Monica; Balistreri, Alberto; Tosi, Gian Marco; Frediani, Bruno; Cantarini, Luca; Fabiani, Claudia
Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features
2024-01-01 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: The 2019 and 2021 International workshops on Alport syndrome
2024-01-01 Daga, Sergio; Ding, Jie; Deltas, Constantinos; Savige, Judy; Lipska-Ziętkiewicz, Beata S.; Hoefele, Julia; Flinter, Frances; Gale, Daniel P.; Aksenova, Marina; Kai, Hirofumi; Perin, Laura; Barua, Moumita; Torra, Roser; Miner, Jeff H.; Massella, Laura; Ljubanović, Danica Galešić; Lennon, Rachel; Weinstock, Andrè B.; Knebelmann, Bertrand; Cerkauskaite, Agne; Gear, Susie; Gross, Oliver; Turner, A. Neil; Baldassarri, Margherita; Pinto, Anna Maria; Renieri, Alessandra
Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot
2024-01-01 Croci, Susanna; Carriero, Miriam Lucia; Capitani, Katia; Daga, Sergio; Donati, Francesco; Frullanti, Elisa; Lamacchia, Vittoria; Tita, Rossella; Giliberti, Annarita; Valentino, Floriana; Benetti, Elisa; Ciabattini, Annalisa; Furini, Simone; Lo Rizzo, Caterina; Pinto, Anna Maria; Conticello, Silvestro Giovanni; Renieri, Alessandra; Meloni, Ilaria
Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
2024-01-01 Savige, Judy; Storey, Helen; Watson, Elizabeth; Hertz, Jens Michael; Deltas, Constantinos; Renieri, Alessandra; Mari, Francesca; Hilbert, Pascale; Plevova, Pavlina; Byers, Peter; Cerkauskaite, Agne; Gregory, Martin; Cerkauskiene, Rimante; Ljubanovic, Danica Galesic; Becherucci, Francesca; Errichiello, Carmela; Massella, Laura; Aiello, Valeria; Lennon, Rachel; Hopkinson, Louise; Koziell, Ania; Lungu, Adrian; Rothe, Hansjorg Martin; Hoefele, Julia; Zacchia, Miriam; Martic, Tamara Nikuseva; Gupta, Asheeta; van Eerde, Albertien; Gear, Susie; Landini, Samuela; Palazzo, Viviana; al-Rabadi, Laith; Claes, Kathleen; Corveleyn, Anniek; Van Hoof, Evelien; van Geel, Micheel; Williams, Maggie; Ashton, Emma; Belge, Hendica; Ars, Elisabeth; Bierzynska, Agnieszka; Gangemi, Concetta; Lipska-Ziętkiewicz, Beata S.
Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells
2024-01-01 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
A novel framework for functional annotation of variants of uncertain significance in ID/ASD risk gene CC2D1A
2024-01-01 Bhattacharya, Aniket; Parlanti, Paola; Cavallo, Luca; Farrow, Edward; Spivey, Tyler; Renieri, Alessandra; Mari, Francesca; Manzini, M Chiara
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death
2024-01-01 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
HLA-DPB1*13:01 associates with enhanced, and KIR2DS4*001 with diminished protection from developing severe COVID-19
2024-01-01 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
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes
2024-01-01 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
Correction: The role of the genetic counsellor in the multidisciplinary team: the perception of geneticists in Europe
2024-01-01 Catapano, Francesca; El Hachmi, Mohamed; Ketterer-Heng, Natacha; Renieri, Alessandra; Mari, Francesca; Morris, Michael; Cordier, Christophe
A unified framework for estimating country-specific cumulative incidence for 18 diseases stratified by polygenic risk
2024-01-01 Jermy, Bradley; Läll, Kristi; Wolford, Brooke N.; Wang, Ying; Zguro, Kristina; Cheng, Yipeng; Kanai, Masahiro; Kanoni, Stavroula; Yang, Zhiyu; Hartonen, Tuomo; Monti, Remo; Wanner, Julian; Youssef, Omar; Lippert, Christoph; van Heel, David; Okada, Yukinori; Mccartney, Daniel L.; Hayward, Caroline; Marioni, Riccardo E.; Furini, Simone; Renieri, Alessandra; Martin, Alicia R.; Neale, Benjamin M.; Hveem, Kristian; Mägi, Reedik; Palotie, Aarno; Heyne, Henrike; Mars, Nina; Ganna, Andrea; Ripatti, Samuli
An interconnected data infrastructure to support large-scale rare disease research
2024-01-01 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
| Titolo | Data di pubblicazione | Autore(i) | File | Abstract |
|---|---|---|---|---|
| G5X Alport Syndrome mouse model hearing characterization for a future preclinic application of CRISPR/Cas9 | 20-dic-2024 | Giorli, Alessia; Lorenzini, Luca; Calzà, Laura; Renieri, Alessandra; Mandala', Marco | - | |
| A new knockin mouse carrying the E364X patient mutation for CDKL5 deficiency disorder: neurological, behavioral and molecular profiling | 1-gen-2024 | Quadalti, C.; Sannia, M.; Humphreys, N. E.; Baldassarro, V. A.; Gurgone, A.; Ascolani, M.; Zanella, L.; Giardino, L.; Gross, C. T.; Croci, S.; Meloni, I.; Giustetto, M.; Renieri, A.; Lorenzini, L.; Calzà, L. | - | |
| MET is a new confirmed gene responsible for familial distal arthrogryposis | 1-gen-2024 | Maffeo, Debora; Carrer, Anna; Rina, Angela; Adamo, Loredaria; Lo Rizzo, Caterina; Bruttini, Mirella; Renieri, Alessandra; Mari, Francesca | - | |
| 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 | - | |
| 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 | - | |
| 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 | - | |
| Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant | 1-gen-2024 | Daga, Sergio; Loberti, Lorenzo; Rollo, Giulia; Adamo, Loredaria; Colavecchio, Olga Lorenza; Brunelli, Giulia; Zguro, Kristina; Tripodi, Sergio Antonio; Guarnieri, Andrea; Garosi, Guido; D'Aurizio, Romina; Ariani, Francesca; Tita, Rossella; Renieri, Alessandra; Pinto, Anna Maria | - | |
| Orbital/ocular inflammatory involvement in VEXAS syndrome: Data from the international AIDA network VEXAS registry | 1-gen-2024 | Vitale, Antonio; Caggiano, Valeria; Martin-Nares, Eduardo; Frassi, Micol; Dagna, Lorenzo; Hissaria, Pravin; Sfriso, Paolo; Hernández-Rodríguez, José; Ruiz-Irastorza, Guillermo; Monti, Sara; Tufan, Abdurrahman; Piga, Matteo; Giardini, Henrique A Mayrink; Lopalco, Giuseppe; Viapiana, Ombretta; De Paulis, Amato; Triggianese, Paola; Vitetta, Rosetta; de-la-Torre, Alejandra; Fonollosa, Alex; Caroni, Federico; Sota, Jurgen; Conticini, Edoardo; Sbalchiero, Jessica; Renieri, Alessandra; Casamassima, Giulia; Wiesik-Szewczyk, Ewa; Yildirim, Derya; Hinojosa-Azaola, Andrea; Crisafulli, Francesca; Franceschini, Franco; Campochiaro, Corrado; Tomelleri, Alessandro; Callisto, Alicia; Beecher, Mark; Bindoli, Sara; Baggio, Chiara; Gómez-Caverzaschi, Verónica; Pelegrín, Laura; Soto-Peleteiro, Adriana; Milanesi, Alessandra; Vasi, Ibrahim; Cauli, Alberto; Antonelli, Isabele Parente de Brito; Iannone, Florenzo; Bixio, Riccardo; Casa, Francesca Della; Mormile, Ilaria; Gurnari, Carmelo; Fiorenza, Alessia; Mejia-Salgado, Germán; Kawakami-Campos, Perla Ayumi; Ragab, Gaafar; Ciccia, Francesco; Ruscitti, Piero; Bocchia, Monica; Balistreri, Alberto; Tosi, Gian Marco; Frediani, Bruno; Cantarini, Luca; Fabiani, Claudia | - | |
| 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: The 2019 and 2021 International workshops on Alport syndrome | 1-gen-2024 | Daga, Sergio; Ding, Jie; Deltas, Constantinos; Savige, Judy; Lipska-Ziętkiewicz, Beata S.; Hoefele, Julia; Flinter, Frances; Gale, Daniel P.; Aksenova, Marina; Kai, Hirofumi; Perin, Laura; Barua, Moumita; Torra, Roser; Miner, Jeff H.; Massella, Laura; Ljubanović, Danica Galešić; Lennon, Rachel; Weinstock, Andrè B.; Knebelmann, Bertrand; Cerkauskaite, Agne; Gear, Susie; Gross, Oliver; Turner, A. Neil; Baldassarri, Margherita; Pinto, Anna Maria; Renieri, Alessandra | - | |
| Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot | 1-gen-2024 | Croci, Susanna; Carriero, Miriam Lucia; Capitani, Katia; Daga, Sergio; Donati, Francesco; Frullanti, Elisa; Lamacchia, Vittoria; Tita, Rossella; Giliberti, Annarita; Valentino, Floriana; Benetti, Elisa; Ciabattini, Annalisa; Furini, Simone; Lo Rizzo, Caterina; Pinto, Anna Maria; Conticello, Silvestro Giovanni; Renieri, Alessandra; Meloni, Ilaria | - | |
| Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria | 1-gen-2024 | Savige, Judy; Storey, Helen; Watson, Elizabeth; Hertz, Jens Michael; Deltas, Constantinos; Renieri, Alessandra; Mari, Francesca; Hilbert, Pascale; Plevova, Pavlina; Byers, Peter; Cerkauskaite, Agne; Gregory, Martin; Cerkauskiene, Rimante; Ljubanovic, Danica Galesic; Becherucci, Francesca; Errichiello, Carmela; Massella, Laura; Aiello, Valeria; Lennon, Rachel; Hopkinson, Louise; Koziell, Ania; Lungu, Adrian; Rothe, Hansjorg Martin; Hoefele, Julia; Zacchia, Miriam; Martic, Tamara Nikuseva; Gupta, Asheeta; van Eerde, Albertien; Gear, Susie; Landini, Samuela; Palazzo, Viviana; al-Rabadi, Laith; Claes, Kathleen; Corveleyn, Anniek; Van Hoof, Evelien; van Geel, Micheel; Williams, Maggie; Ashton, Emma; Belge, Hendica; Ars, Elisabeth; Bierzynska, Agnieszka; Gangemi, Concetta; Lipska-Ziętkiewicz, Beata S. | - | |
| 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 | - | |
| A novel framework for functional annotation of variants of uncertain significance in ID/ASD risk gene CC2D1A | 1-gen-2024 | Bhattacharya, Aniket; Parlanti, Paola; Cavallo, Luca; Farrow, Edward; Spivey, Tyler; Renieri, Alessandra; Mari, Francesca; Manzini, M Chiara | - | |
| 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 | - | |
| 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 | - | |
| 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 | - | |
| Correction: The role of the genetic counsellor in the multidisciplinary team: the perception of geneticists in Europe | 1-gen-2024 | Catapano, Francesca; El Hachmi, Mohamed; Ketterer-Heng, Natacha; Renieri, Alessandra; Mari, Francesca; Morris, Michael; Cordier, Christophe | - | |
| A unified framework for estimating country-specific cumulative incidence for 18 diseases stratified by polygenic risk | 1-gen-2024 | Jermy, Bradley; Läll, Kristi; Wolford, Brooke N.; Wang, Ying; Zguro, Kristina; Cheng, Yipeng; Kanai, Masahiro; Kanoni, Stavroula; Yang, Zhiyu; Hartonen, Tuomo; Monti, Remo; Wanner, Julian; Youssef, Omar; Lippert, Christoph; van Heel, David; Okada, Yukinori; Mccartney, Daniel L.; Hayward, Caroline; Marioni, Riccardo E.; Furini, Simone; Renieri, Alessandra; Martin, Alicia R.; Neale, Benjamin M.; Hveem, Kristian; Mägi, Reedik; Palotie, Aarno; Heyne, Henrike; Mars, Nina; Ganna, Andrea; Ripatti, Samuli | - | |
| 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 | - |
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