HTS-DB: an online resource to publish and query data from functional genomics high-throughput siRNA screening projects

by Saunders, Rebecca E., Instrell, Rachael, Rispoli, Rossella, Jiang, Ming, Howell, Michael
Published 2013

A community-based resource for automatic exome variant-calling and annotation in Mendelian disorders

by Mutarelli, Margherita, Marwah, Veer Singh, Rispoli, Rossella, Carrella, Diego, Dharmalingam, Gopuraja, Oliva, Gennaro, di Bernardo, Diego
Published 2014

Molecular Diagnosis of Usher Syndrome: Application of Two Different Next Generation Sequencing-Based Procedures

by Licastro, Danilo, Mutarelli, Margherita, Peluso, Ivana, Neveling, Kornelia, Wieskamp, Nienke, Rispoli, Rossella, Vozzi, Diego, Athanasakis, Emmanouil, D'Eustacchio, Angela, Pizzo, Mariateresa, D'Amico, Francesca, Ziviello, Carmela, Simonelli, Francesca, Fabretto, Antonella, Scheffer, Hans, Gasparini, Paolo, Banfi, Sandro, Nigro, Vincenzo
Published 2012

Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F

by Torella, Annalaura, Fanin, Marina, Mutarelli, Margherita, Peterle, Enrico, Del Vecchio Blanco, Francesca, Rispoli, Rossella, Savarese, Marco, Garofalo, Arcomaria, Piluso, Giulio, Morandi, Lucia, Ricci, Giulia, Siciliano, Gabriele, Angelini, Corrado, Nigro, Vincenzo
Published 2013