MATTIA CARVETTA

PhD Student

PhD program:: XL
email: mattia.carvetta@uniroma1.it
phone: +390668594383
building: Ospedale Pediatrico Bambino Gesù
room: UdR di Genetica Molecolare e Genomica Funzionale

supervisor: Andrea Ciolfi

Research: Exploring the full spectrum of genomic variation: long-read sequencing to identify novel disease genes in undiagnosed rare disorders

Research products

11573/1729211 - 2024 - Whole Genome Sequencing Solves an Atypical Form of Bardet–Biedl Syndrome: Identification of Novel Pathogenic Variants of BBS9

Stellacci, Emilia; Niceta, Marcello; Bruselles, Alessandro; Straface, Emilio; Tatti, Massimo; Carvetta, Mattia; Mancini, Cecilia; Cecchetti, Serena; Parravano, Mariacristina; Barbano, Lucilla; Varano, Monica; Tartaglia, Marco; Ziccardi, Lucia; Cordeddu, Viviana - 01a Articolo in rivista

paper: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (Basel: MDPI Center) pp. 1-13 - issn: 1422-0067 - wos: WOS:001287870600001 (0) - scopus: 2-s2.0-85200892102 (0)