SCARPATO, MARGHERITA
SCARPATO, MARGHERITA
Dipartimento di Medicina di Precisione
A Novel Variant in TUBB4B Causes Progressive Cone‐Rod Dystrophy and Early Onset Sensorineural Hearing Loss
2025 Scarpato, Margherita; Testa, Francesco; Nesti, Anna; Zeuli, Roberta; Boccia, Rosa; Auletta, Gennaro; Banfi, Sandro; Simonelli, Francesca; Karali, Marianthi
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa
2026 Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; De Bruijn, Suzanne E; Iglesias-Romero, Ana Belén; Boonen, Erica G M; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K; Tsang, Stephen H; Corradi, Zelia; Freund, K Bailey; Shliaga, Stefanida; Panneman, Daan M; Hitti-Malin, Rebekkah J; Ali, Manir; Altalbishi, Ala'A; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D N; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T S; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J F; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M; Burin Des Roziers, Cyril; Cadena, Elizabeth L; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P; De Baere, Elfride; De Bruyne, Marieke; De La Cerda, Berta; De Roach, John N; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L; Farrar, G Jane; Feltgen, Nicolas; Fenner, Beau J; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B; Haer-Wigman, Lonneke; Hardcastle, Alison J; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H; Hoischen, Alexander; Holtan, Josephine P; Hoyng, Carel B; Ibanez, Manuel Benjamin B; Inglehearn, Chris F; Iwata, Takeshi; Jensson, Brynjar O; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C W; Knézy, Krisztina; Koenekoop, Robert K; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M; Leibu, Rina; Leroy, Bart P; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R De J; Mahieu, Quinten; Mahroo, Omar A; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M Pilar; Martins, Nelson; Mauring, Laura; Mckibbin, Martin; Mclaren, Terri L; Meunier, Isabelle; Michaelides, Michel; Millán, José M; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M; Scarpato, Margherita; Scholl, Hendrik P N; Sharon, Dror; Signorini, Sabrina G; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S; Szabó, Viktória; Szaflik, Jacek P; Taurina, Gita; Thiadens, Alberta A H J; Toomes, Carmel; Tran, Viet H; Tsilimbaris, Miltiadis K; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; Van Aerschot, Joseph; Van Den Born, L Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J M; Vincent, Andrea L; Webster, Andrew R; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G; Yoshitake, Kazutoshi; Zenteno, Juan C; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I; Lin, Siying; Cremers, Frans P M; Lee, Winston; Ellingford, Jamie M; Stanek, David; Roosing, Susanne; Rivolta, Carlo
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy
2022 Karali, Marianthi; Testa, Francesco; Di Iorio, Valentina; Torella, Annalaura; Zeuli, Roberta; Scarpato, Margherita; Romano, Francesca; Onore, Maria Elena; Pizzo, Mariateresa; Melillo, Paolo; Brunetti-Pierri, Raffaella; Passerini, Ilaria; Pelo, Elisabetta; Cremers, Frans P M; Esposito, Gabriella; Nigro, Vincenzo; Simonelli, Francesca; Banfi, Sandro
Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome
2024 De Falco, Alessandro; Karali, Marianthi; Criscuolo, Chiara; Testa, Francesco; Barillari, Maria Rosaria; Scarpato, Margherita; Gaudieri, Valeria; Cuocolo, Alberto; Russo, Anna; Nigro, Vincenzo; Simonelli, Francesca; Banfi, Sandro; Brunetti-Pierri, Nicola
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome
2025 Di Letto, P.; Budillon, A.; Rahman, S. I.; Del Vecchio Blanco, F.; Zanobio, M.; Scarpato, M.; Russo, M.; Onore, M. E.; Piluso, G.; Nigro, V.; Banfi, S.; Torella, A.; Morleo, M.; Pierri, N. B.; Parenti, G.; Spampanato, C.; Piluso, G.; Pinelli, M.; Vitiello, G.; Selicorni, A.; Mariani, M.; Daolio, C.; Capra, V.; Accogli, A.; Scala, M.; Nardecchia, F.; Galosi, S.; Mastrangelo, M.; Milani, D.; Romano, C.; Failla, P.; Greco, D.; Pantaleoni, C.; Ciaccio, C.; D'Arrigo, S.; Coppola, A.; Mattina, T.; Zollino, M.; Pasquetti, D.; Erario, F. L.; Tummolo, A.; Santoro, C.; Grandone, A.; Garavelli, L.; Marini, C.; Bigoni, S.; Piscopo, C.; Trabacca, A.; De Rinaldis, M.; Nigro, V.; Scarano, G.; Torella, A.
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes
2025 Di Letto, Pasquale; De Leonibus, Chiara; Palmieri, Francesca Pia; Zanobio, Mariateresa; Scarpato, Margherita; Cetrangolo, Viviana; Rahman, Sarah Iffat; Selicorni, Angelo; Mariani, Milena; D'Arrigo, Stefano; Ciaccio, Claudia; Milani, Donatella; Ajmone, Paola Francesca; Morleo, Manuela; Spampanato, Carmine; Piluso, Giulio; Zollino, Marcella; L'Erario, Federica Francesca; Greco, Donatella; Capra, Valeria; Scala, Marcello; Romano, Ferruccio; Terrone, Gaetano; De Falco, Alessandro; Paolella, Chiara; Mastrangelo, Mario; Ricciardi, Giacomina; Brunetti-Pierri, Nicola; Nigro, Vincenzo; Torella, Annalaura
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss
2024 Karali, Marianthi; García-García, Gema; Kaminska, Karolina; Altalbishi, Alaa; Cancellieri, Francesca; Testa, Francesco; Barillari, Maria Rosaria; Panagiotou, Evangelia S.; Psillas, George; Vaclavik, Veronika; Tran, Viet H.; Janeschitz-Kriegl, Lucas; Scholl, Hendrik PN; Salameh, Manar; Barberán-Martínez, Pilar; Rodríguez-Muñoz, Ana; Armengot, Miguel; Scarpato, Margherita; Zeuli, Roberta; Quinodoz, Mathieu; Simonelli, Francesca; Rivolta, Carlo; Banfi, Sandro; Millán, José M.
Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients
2024 Zeuli, Roberta; Karali, Marianthi; de Bruijn, Suzanne E; Rodenburg, Kim; Scarpato, Margherita; Capasso, Dalila; Astuti, Galuh D N; Gilissen, Christian; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Testa, Francesco; Simonelli, Francesca; Cremers, Frans P M; Banfi, Sandro; Roosing, Susanne
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A Novel Variant in TUBB4B Causes Progressive Cone‐Rod Dystrophy and Early Onset Sensorineural Hearing Loss | 1-gen-2025 | Scarpato, Margherita; Testa, Francesco; Nesti, Anna; Zeuli, Roberta; Boccia, Rosa; Auletta, Gennaro; Banfi, Sandro; Simonelli, Francesca; Karali, Marianthi | |
| De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa | 1-gen-2026 | Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; De Bruijn, Suzanne E; Iglesias-Romero, Ana Belén; Boonen, Erica G M; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K; Tsang, Stephen H; Corradi, Zelia; Freund, K Bailey; Shliaga, Stefanida; Panneman, Daan M; Hitti-Malin, Rebekkah J; Ali, Manir; Altalbishi, Ala'A; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D N; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T S; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J F; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M; Burin Des Roziers, Cyril; Cadena, Elizabeth L; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P; De Baere, Elfride; De Bruyne, Marieke; De La Cerda, Berta; De Roach, John N; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L; Farrar, G Jane; Feltgen, Nicolas; Fenner, Beau J; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B; Haer-Wigman, Lonneke; Hardcastle, Alison J; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H; Hoischen, Alexander; Holtan, Josephine P; Hoyng, Carel B; Ibanez, Manuel Benjamin B; Inglehearn, Chris F; Iwata, Takeshi; Jensson, Brynjar O; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C W; Knézy, Krisztina; Koenekoop, Robert K; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M; Leibu, Rina; Leroy, Bart P; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R De J; Mahieu, Quinten; Mahroo, Omar A; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M Pilar; Martins, Nelson; Mauring, Laura; Mckibbin, Martin; Mclaren, Terri L; Meunier, Isabelle; Michaelides, Michel; Millán, José M; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M; Scarpato, Margherita; Scholl, Hendrik P N; Sharon, Dror; Signorini, Sabrina G; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S; Szabó, Viktória; Szaflik, Jacek P; Taurina, Gita; Thiadens, Alberta A H J; Toomes, Carmel; Tran, Viet H; Tsilimbaris, Miltiadis K; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; Van Aerschot, Joseph; Van Den Born, L Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J M; Vincent, Andrea L; Webster, Andrew R; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G; Yoshitake, Kazutoshi; Zenteno, Juan C; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I; Lin, Siying; Cremers, Frans P M; Lee, Winston; Ellingford, Jamie M; Stanek, David; Roosing, Susanne; Rivolta, Carlo | |
| Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy | 1-gen-2022 | Karali, Marianthi; Testa, Francesco; Di Iorio, Valentina; Torella, Annalaura; Zeuli, Roberta; Scarpato, Margherita; Romano, Francesca; Onore, Maria Elena; Pizzo, Mariateresa; Melillo, Paolo; Brunetti-Pierri, Raffaella; Passerini, Ilaria; Pelo, Elisabetta; Cremers, Frans P M; Esposito, Gabriella; Nigro, Vincenzo; Simonelli, Francesca; Banfi, Sandro | |
| Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome | 1-gen-2024 | De Falco, Alessandro; Karali, Marianthi; Criscuolo, Chiara; Testa, Francesco; Barillari, Maria Rosaria; Scarpato, Margherita; Gaudieri, Valeria; Cuocolo, Alberto; Russo, Anna; Nigro, Vincenzo; Simonelli, Francesca; Banfi, Sandro; Brunetti-Pierri, Nicola | |
| Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome | 1-gen-2025 | Di Letto, P.; Budillon, A.; Rahman, S. I.; Del Vecchio Blanco, F.; Zanobio, M.; Scarpato, M.; Russo, M.; Onore, M. E.; Piluso, G.; Nigro, V.; Banfi, S.; Torella, A.; Morleo, M.; Pierri, N. B.; Parenti, G.; Spampanato, C.; Piluso, G.; Pinelli, M.; Vitiello, G.; Selicorni, A.; Mariani, M.; Daolio, C.; Capra, V.; Accogli, A.; Scala, M.; Nardecchia, F.; Galosi, S.; Mastrangelo, M.; Milani, D.; Romano, C.; Failla, P.; Greco, D.; Pantaleoni, C.; Ciaccio, C.; D'Arrigo, S.; Coppola, A.; Mattina, T.; Zollino, M.; Pasquetti, D.; Erario, F. L.; Tummolo, A.; Santoro, C.; Grandone, A.; Garavelli, L.; Marini, C.; Bigoni, S.; Piscopo, C.; Trabacca, A.; De Rinaldis, M.; Nigro, V.; Scarano, G.; Torella, A. | |
| Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes | 1-gen-2025 | Di Letto, Pasquale; De Leonibus, Chiara; Palmieri, Francesca Pia; Zanobio, Mariateresa; Scarpato, Margherita; Cetrangolo, Viviana; Rahman, Sarah Iffat; Selicorni, Angelo; Mariani, Milena; D'Arrigo, Stefano; Ciaccio, Claudia; Milani, Donatella; Ajmone, Paola Francesca; Morleo, Manuela; Spampanato, Carmine; Piluso, Giulio; Zollino, Marcella; L'Erario, Federica Francesca; Greco, Donatella; Capra, Valeria; Scala, Marcello; Romano, Ferruccio; Terrone, Gaetano; De Falco, Alessandro; Paolella, Chiara; Mastrangelo, Mario; Ricciardi, Giacomina; Brunetti-Pierri, Nicola; Nigro, Vincenzo; Torella, Annalaura | |
| Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss | 1-gen-2024 | Karali, Marianthi; García-García, Gema; Kaminska, Karolina; Altalbishi, Alaa; Cancellieri, Francesca; Testa, Francesco; Barillari, Maria Rosaria; Panagiotou, Evangelia S.; Psillas, George; Vaclavik, Veronika; Tran, Viet H.; Janeschitz-Kriegl, Lucas; Scholl, Hendrik PN; Salameh, Manar; Barberán-Martínez, Pilar; Rodríguez-Muñoz, Ana; Armengot, Miguel; Scarpato, Margherita; Zeuli, Roberta; Quinodoz, Mathieu; Simonelli, Francesca; Rivolta, Carlo; Banfi, Sandro; Millán, José M. | |
| Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients | 1-gen-2024 | Zeuli, Roberta; Karali, Marianthi; de Bruijn, Suzanne E; Rodenburg, Kim; Scarpato, Margherita; Capasso, Dalila; Astuti, Galuh D N; Gilissen, Christian; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Testa, Francesco; Simonelli, Francesca; Cremers, Frans P M; Banfi, Sandro; Roosing, Susanne |