Browsing by Author Tartaglia, Marco
Showing results 3 to 11 of 11
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| Issue Date | Title | Author(s) |
|---|---|---|
| 2022 | Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish | Fasano, Giulia; Muto, Valentina; Radio, Francesca Clementina; Venditti, Martina; Mosaddeghzadeh, Niloufar; Coppola, Simona; Paradisi, Graziamaria; Zara, Erika; Bazgir, Farhad; Ziegler, Alban; Chillemi, Giovanni ; Bertuccini, Lucia; Tinari, Antonella; Vetro, Annalisa; Pantaleoni, Francesca; Pizzi, Simone; Conti, Libenzio Adrian; Petrini, Stefania; Bruselles, Alessandro; Prandi, Ingrid Guarnetti; Mancini, Cecilia; Chandramouli, Balasubramanian; Barth, Magalie; Bris, Céline; Milani, Donatella; Selicorni, Angelo; Macchiaiolo, Marina; Gonfiantini, Michaela V; Bartuli, Andrea; Mariani, Riccardo; Curry, Cynthia J; Guerrini, Renzo; Slavotinek, Anne; Iascone, Maria; Dallapiccola, Bruno; Ahmadian, Mohammad Reza; Lauri, Antonella; Tartaglia, Marco |
| 2021 | Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations | Battaglia, Domenica I; Gambardella, Maria Luigia; Veltri, Stefania; Contaldo, Ilaria; Chillemi, Giovanni ; Veredice, Chiara; Quintiliani, Michela; Leoni, Chiara; Onesimo, Roberta; Verdolotti, Tommaso; Radio, Francesca Clementina; Martinelli, Diego; Trivisano, Marina; Specchio, Nicola; Dravet, Charlotte; Tartaglia, Marco; Zampino, Giuseppe |
| 2022 | Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome | Motta, Marialetizia; Solman, Maja; Bonnard, Adeline A; Kuechler, Alma; Pantaleoni, Francesca; Priolo, Manuela; Chandramouli, Balasubramanian; Coppola, Simona; Pizzi, Simone; Zara, Erika; Ferilli, Marco; Kayserili, Hülya; Onesimo, Roberta; Leoni, Chiara; Brinkmann, Julia; Vial, Yoann; Kamphausen, Susanne B; Thomas-Teinturier, Cécile; Guimier, Anne; Cordeddu, Viviana; Mazzanti, Laura; Zampino, Giuseppe; Chillemi, Giovanni ; Zenker, Martin; Cavé, Hélène; Hertog, Jeroen; Tartaglia, Marco |
| 2022 | Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species | Carpentieri, Giovanna; Leoni, Chiara; Pietraforte, Donatella; Cecchetti, Serena; Iorio, Egidio; Belardo, Antonio; Pietrucci, Daniele ; Di Nottia, Michela; Pajalunga, Deborah; Megiorni, Francesca; Mercurio, Laura; Tatti, Massimo; Camero, Simona; Marchese, Cinzia; Rizza, Teresa; Tirelli, Valentina; Onesimo, Roberta; Carrozzo, Rosalba; Rinalducci Sara ; Chillemi, Giovanni ; Zampino, Giuseppe; Tartaglia, Marco; Flex, Elisabetta |
| 2022 | Incremental net benefit of whole genome sequencing for newborns and children with suspected genetic disorders: Systematic review and meta-analysis of cost-effectiveness evidence | Nurchis, Mario Cesare; Riccardi, Maria Teresa; Radio, Francesca Clementina; Chillemi, Giovanni ; Bertini, Enrico Silvio; Tartaglia, Marco; Cicchetti, Americo; Dallapiccola, Bruno; Damiani, Gianfranco |
| 2022 | Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic Polr2a variant | Paparella, Roberto; Caroleo, Anna Maria; Agolini, Emanuele; Chillemi, Giovanni ; Miele, Evelina; Pedace, Lucia; Rinelli, Martina; Pizzi, Simone; Boccuto, Luigi; Colafati, Giovanna Stefania; Lodi, Mariachiara; Cacchione, Antonella; Carai, Andrea; Digilio, Maria Cristina; Tomà, Paolo; Tartaglia, Marco; Mastronuzzi, Angela |
| 2021 | SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype | Motta, Marialetizia; Fasano, Giulia; Gredy, Sina; Brinkmann, Julia; Bonnard, Adeline Alice; Simsek-Kiper, Pelin Ozlem; Gulec, Elif Yilmaz; Essaddam, Leila; Utine, Gulen Eda; Guarnetti Prandi, Ingrid; Venditti, Martina; Pantaleoni, Francesca; Radio, Francesca Clementina; Ciolfi, Andrea; Petrini, Stefania; Consoli, Federica; Vignal, Cédric; Hepbasli, Denis; Ullrich, Melanie; de Boer, Elke; Vissers, Lisenka E L M; Gritli, Sami; Rossi, Cesare; De Luca, Alessandro; Ben Becher, Saayda; Gelb, Bruce D; Dallapiccola, Bruno; Lauri, Antonella; Chillemi, Giovanni ; Schuh, Kai; Cavé, Hélène; Zenker, Martin; Tartaglia, Marco |
| 2024 | Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation | Accogli, Andrea; Shakya, Saurabh; Yang, Taewoo; Insinna, Christine; Kim, Soo Yeon; Bell, David; Butov, Kirill R; Severino, Mariasavina; Niceta, Marcello; Scala, Marcello; Lee, Hyun Sik; Yoo, Taekyeong; Stauffer, Jimmy; Zhao, Huijie; Fiorillo, Chiara; Pedemonte, Marina; Diana, Maria C; Baldassari, Simona; Zakharova, Viktoria; Shcherbina, Anna; Rodina, Yulia; Fagerberg, Christina; Roos, Laura Sønderberg; Wierzba, Jolanta; Dobosz, Artur; Gerard, Amanda; Potocki, Lorraine; Rosenfeld, Jill A; Lalani, Seema R; Scott, Tiana M; Scott, Daryl; Azamian, Mahshid S; Louie, Raymond; Moore, Hannah W; Champaigne, Neena L; Hollingsworth, Grace; Torella, Annalaura; Nigro, Vincenzo; Ploski, Rafal; Salpietro, Vincenzo; Zara, Federico; Pizzi, Simone; Chillemi, Giovanni ; Ognibene, Marzia; Cooney, Erin; Do, Jenny; Linnemann, Anders; Larsen, Martin J; Specht, Suzanne; Walters, Kylie J; Choi, Hee-Jung; Choi, Murim; Tartaglia, Marco; Youkharibache, Phillippe; Chae, Jong-Hee; Capra, Valeria; Park, Sung-Gyoo; Westlake, Christopher J |
| 2023 | Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment | Nurchis, Mario Cesare; Altamura, Gerardo; Riccardi, Maria Teresa; Radio, Francesca Clementina; Chillemi, Giovanni ; Bertini, Enrico Silvio; Garlasco, Jacopo; Tartaglia, Marco; Dallapiccola, Bruno; Damiani, Gianfranco |