VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database

by F. Musacchia, A. Ciolfi, M. Mutarelli, A. Bruselles, R. Castello, M. Pinelli, S. Basu, S. Banfi, G. Casari, M. Tartaglia, V. Nigro, TUDP
Published 2018-12-01

Cavitating and tigroid‐like leukoencephalopathy in a case of NDUFA2‐related disorder

by Marianna Alagia, Gerarda Cappuccio, Annalaura Torella, Alessandra D'Amico, Federica Mazio, Alfonso Romano, Simona Fecarotta, Giorgio Casari, Vincenzo Nigro, TUDP, Nicola Brunetti‐Pierri
Published 2020-03-01

Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4

by Gerarda Cappuccio, Raffaella Brunetti‐Pierri, Annalaura Torella, Michele Pinelli, Raffaele Castello, Giorgio Casari, Vincenzo Nigro, Sandro Banfi, Francesca Simonelli, TUDP, Nicola Brunetti‐Pierri
Published 2019-06-01