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Dominantly acting variants in vacuolar ATPase subunits impair lysosomal/autophagolysosome function causing a multisystemic disorder with neurocognitive impairment and multiple congenital anomalies Carpentieri, Giovanna; Cecchetti, Serena; Bocchinfuso, Gianfranco; Radio, Francesca Clementina; Leoni, Chiara; Onesimo, Roberta; Calligari, Paolo; Pietrantoni, Agostina; Ciolfi, Andrea; Ferilli, Marco; Calderan, Cristina; Cappuccio, Gerarda; Martinelli, Simone; Messina, Elena; Caputo, Viviana; Hüffmeier, Ulrike; Mignot, Cyril; Auvin, Stéphane; Capri, Yline; Lourenco, Charles Marques; Russell, Bianca E; Neustad, Ahna; Pierri, Nicola Brunetti; Keren, Boris; Reis, André; Cohen, Julie S; Heidlebaugh, Alexis; Smith, Clay; Thiel, Christian T; Salviati, Leonardo; Zampino, Giuseppe; Campeau, Philippe M; Stella, Lorenzo; Tartaglia, Marco; Flex, Elisabetta - 01a Articolo in rivista
rivista: HGG ADVANCES (New York: Cell Press Elsevier Inc.) pp. 1-17 - issn: 2666-2477 - wos: WOS:001325375900001 (0) - scopus: (0)
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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
rivista: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (Basel: MDPI Center) pp. 1-13 - issn: 1422-0067 - wos: WOS:001287870600001 (0) - scopus: 2-s2.0-85200892102 (0)