Pubblicazioni

Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations

2019 - HUMAN MUTATION

Fusco, C; Copetti, M; Mazza, T; Amoruso, L; Mastoianno, S; Nardella, G; Guarnieri, V; Micale, L; D'Agruma, L; Castori, M.

A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion.

2018 - HUMAN MUTATION

Nardella, G; Visci, G; Guarnieri, V; Castellana, S; Biagini, T; Bisceglia, L; Palumbo, O; Trivisano, M; Vaira, C; Scerrati, M; Debrasi, D; D'Angelo, V; Carella, M; Merla, G; Mazza, T; Castori, M; D'Agruma, L; Fusco, C.