MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples

por Savarese, Marco, Di Fruscio, Giuseppina, Mutarelli, Margherita, Torella, Annalaura, Magri, Francesca, Santorelli, Filippo Maria, Comi, Giacomo Pietro, Bruno, Claudio, Nigro, Vincenzo
Publicado 2014

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway

por Di Fruscio, Giuseppina, Schulz, Angela, De Cegli, Rossella, Savarese, Marco, Mutarelli, Margherita, Parenti, Giancarlo, Banfi, Sandro, Braulke, Thomas, Nigro, Vincenzo, Ballabio, Andrea
Publicado 2015

Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies

por Di Iorio, Valentina, Karali, Marianthi, Brunetti-Pierri, Raffaella, Filippelli, Mariaelena, Di Fruscio, Giuseppina, Pizzo, Mariateresa, Mutarelli, Margherita, Nigro, Vincenzo, Testa, Francesco, Banfi, Sandro, Simonelli, Francesca
Publicado 2017

Enhancer Chip: Detecting Human Copy Number Variations in Regulatory Elements

por Savarese, Marco, Piluso, Giulio, Orteschi, Daniela, Di Fruscio, Giuseppina, Dionisi, Manuela, Blanco, Francesca del Vecchio, Torella, Annalaura, Giugliano, Teresa, Iacomino, Michele, Zollino, Marcella, Neri, Giovanni, Nigro, Vincenzo
Publicado 2012

KRAS Mutational Regression Is Associated With Oligo-Metastatic Status and Good Prognosis in Metastatic Colorectal Cancer

por Ottaiano, Alessandro, Nasti, Guglielmo, Santorsola, Mariachiara, Altieri, Vincenzo, Di Fruscio, Giuseppina, Circelli, Luisa, Luce, Amalia, Cossu, Alessia Maria, Scognamiglio, Giosuè, Perri, Francesco, Correra, Marco, Belli, Andrea, Delrio, Paolo, Botti, Gerardo, Caraglia, Michele
Publicado 2021

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

por Savarese, Marco, Di Fruscio, Giuseppina, Tasca, Giorgio, Ruggiero, Lucia, Janssens, Sandra, De Bleecker, Jan, Delpech, Marc, Musumeci, Olimpia, Toscano, Antonio, Angelini, Corrado, Sacconi, Sabrina, Santoro, Lucio, Ricci, Enzo, Claes, Kathleen, Politano, Luisa, Nigro, Vincenzo
Publicado 2015