GRANATA, STEFANIA
GRANATA, STEFANIA
Dipartimento di Biotecnologie Mediche
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
2023-01-01 Bosch, Elisabeth; Popp, Bernt; Güse, Esther; Skinner, Cindy; van der Sluijs, Pleuntje J.; Maystadt, Isabelle; Pinto, Anna Maria; Renieri, Alessandra; Bruno, Lucia Pia; Granata, Stefania; Marcelis, Carlo; Baysal, Özlem; Hartwich, Dewi; Holthöfer, Laura; Isidor, Bertrand; Cogne, Benjamin; Wieczorek, Dagmar; Capra, Valeria; Scala, Marcello; De Marco, Patrizia; Ognibene, Marzia; Jamra, Rami Abou; Platzer, Konrad; Carter, Lauren B.; Kuismin, Outi; van Haeringen, Arie; Maroofian, Reza; Valenzuela, Irene; Cuscó, Ivon; Martinez-Agosto, Julian A.; Rabani, Ahna M.; Mefford, Heather C.; Pereira, Elaine M.; Close, Charlotte; Anyane-Yeboa, Kwame; Wagner, Mallory; Hannibal, Mark C.; Zacher, Pia; Thiffault, Isabelle; Beunders, Gea; Umair, Muhammad; Bhola, Priya T.; Mcginnis, Erin; Millichap, John; van de Kamp, Jiddeke M.; Prijoles, Eloise J.; Dobson, Amy; Shillington, Amelle; Graham, Brett H.; Garcia, Evan-Jacob; Galindo, Maureen Kelly; Ropers, Fabienne G.; Nibbeling, Esther A. R.; Hubbard, Gail; Karimov, Catherine; Goj, Guido; Bend, Renee; Rath, Julie; Morrow, Michelle M.; Millan, Francisca; Salpietro, Vincenzo; Torella, Annalaura; Nigro, Vincenzo; Kurki, Mitja; Stevenson, Roger E.; Santen, Gijs W. E.; Zweier, Markus; Campeau, Philippe M.; Severino, Mariasavina; Reis, André; Accogli, Andrea; Vasileiou, Georgia
New candidates for autism/intellectual disability identified by whole-exome sequencing
2021-01-01 Bruno, L. P.; Doddato, G.; Valentino, F.; Baldassarri, M.; Tita, R.; Fallerini, C.; Bruttini, M.; Rizzo, C. L.; Mencarelli, M. A.; Mari, F.; Pinto, A. M.; Fava, F.; Fabbiani, A.; Lamacchia, V.; Carrer, A.; Caputo, V.; Granata, S.; Benetti, E.; Zguro, K.; Furini, S.; Renieri, A.; Ariani, F.
Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy
2022-01-01 Serio, Viola Bianca; Palmieri, Maria; Loberti, Lorenzo; Granata, Stefania; Fallerini, Chiara; Vaghi, Massimo; Renieri, Alessandra; Pinto, Anna Maria
| Titolo | Data di pubblicazione | Autore(i) | File | Abstract |
|---|---|---|---|---|
| Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals | 1-gen-2023 | Bosch, Elisabeth; Popp, Bernt; Güse, Esther; Skinner, Cindy; van der Sluijs, Pleuntje J.; Maystadt, Isabelle; Pinto, Anna Maria; Renieri, Alessandra; Bruno, Lucia Pia; Granata, Stefania; Marcelis, Carlo; Baysal, Özlem; Hartwich, Dewi; Holthöfer, Laura; Isidor, Bertrand; Cogne, Benjamin; Wieczorek, Dagmar; Capra, Valeria; Scala, Marcello; De Marco, Patrizia; Ognibene, Marzia; Jamra, Rami Abou; Platzer, Konrad; Carter, Lauren B.; Kuismin, Outi; van Haeringen, Arie; Maroofian, Reza; Valenzuela, Irene; Cuscó, Ivon; Martinez-Agosto, Julian A.; Rabani, Ahna M.; Mefford, Heather C.; Pereira, Elaine M.; Close, Charlotte; Anyane-Yeboa, Kwame; Wagner, Mallory; Hannibal, Mark C.; Zacher, Pia; Thiffault, Isabelle; Beunders, Gea; Umair, Muhammad; Bhola, Priya T.; Mcginnis, Erin; Millichap, John; van de Kamp, Jiddeke M.; Prijoles, Eloise J.; Dobson, Amy; Shillington, Amelle; Graham, Brett H.; Garcia, Evan-Jacob; Galindo, Maureen Kelly; Ropers, Fabienne G.; Nibbeling, Esther A. R.; Hubbard, Gail; Karimov, Catherine; Goj, Guido; Bend, Renee; Rath, Julie; Morrow, Michelle M.; Millan, Francisca; Salpietro, Vincenzo; Torella, Annalaura; Nigro, Vincenzo; Kurki, Mitja; Stevenson, Roger E.; Santen, Gijs W. E.; Zweier, Markus; Campeau, Philippe M.; Severino, Mariasavina; Reis, André; Accogli, Andrea; Vasileiou, Georgia | - | |
| New candidates for autism/intellectual disability identified by whole-exome sequencing | 1-gen-2021 | Bruno, L. P.; Doddato, G.; Valentino, F.; Baldassarri, M.; Tita, R.; Fallerini, C.; Bruttini, M.; Rizzo, C. L.; Mencarelli, M. A.; Mari, F.; Pinto, A. M.; Fava, F.; Fabbiani, A.; Lamacchia, V.; Carrer, A.; Caputo, V.; Granata, S.; Benetti, E.; Zguro, K.; Furini, S.; Renieri, A.; Ariani, F. | - | |
| Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy | 1-gen-2022 | Serio, Viola Bianca; Palmieri, Maria; Loberti, Lorenzo; Granata, Stefania; Fallerini, Chiara; Vaghi, Massimo; Renieri, Alessandra; Pinto, Anna Maria | - |