Browsing by Author Tartaglia, Marco


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Issue DateTitleAuthor(s)
2022Incremental net benefit of whole genome sequencing for newborns and children with suspected genetic disorders: Systematic review and meta-analysis of cost-effectiveness evidenceNurchis, Mario Cesare; Riccardi, Maria Teresa; Radio, Francesca Clementina; Chillemi, Giovanni ; Bertini, Enrico Silvio; Tartaglia, Marco; Cicchetti, Americo; Dallapiccola, Bruno; Damiani, Gianfranco
2022Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic Polr2a variantPaparella, 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
2021SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotypeMotta, 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
2024Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiationAccogli, 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
2023Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessmentNurchis, Mario Cesare; Altamura, Gerardo; Riccardi, Maria Teresa; Radio, Francesca Clementina; Chillemi, Giovanni ; Bertini, Enrico Silvio; Garlasco, Jacopo; Tartaglia, Marco; Dallapiccola, Bruno; Damiani, Gianfranco