20072020

Research output per year

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Fingerprint Dive into the research topics where Bartolomeo Augello is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Research Output

Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder

Squeo, G. M., Augello, B., Massa, V., Milani, D., Colombo, E. A., Mazza, T., Castellana, S., Piccione, M., Maitz, S., Petracca, A., Prontera, P., Accadia, M., Della Monica, M., Di Giacomo, M. C., Melis, D., Selicorni, A., Giglio, S., Fischetto, R., Di Fede, E., Malerba, N. & 4 others, Russo, M., Castori, M., Gervasini, C. & Merla, G., Jan 1 2020, (Accepted/In press) In : Journal of Medical Genetics. jmedgenet-2019-106724.

Research output: Contribution to journalArticle

  • Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes

    Di Fede, E., Massa, V., Augello, B., Squeo, G., Scarano, E., Perri, A. M., Fischetto, R., Causio, F. A., Zampino, G., Piccione, M., Curridori, E., Mazza, T., Castellana, S., Larizza, L., Ghelma, F., Colombo, E. A., Gandini, M. C., Castori, M., Merla, G., Milani, D. & 1 others, Gervasini, C., 2020, (Accepted/In press) In : European Journal of Human Genetics.

    Research output: Contribution to journalArticle

    Open Access
  • Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line

    Malerba, N., Benzoni, P., Squeo, G. M., Milanesi, R., Giannetti, F., Sadleir, L. G., Poke, G., Augello, B., Croce, A. I., Barbuti, A. & Merla, G., Oct 1 2019, In : Stem Cell Research. 40, 101547.

    Research output: Contribution to journalArticle

    Open Access
  • Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: Insights into molecular properties of selected exostosin variants

    Fusco, C., Nardella, G., Fischetto, R., Copetti, M., Petracca, A., Annunziata, F., Augello, B., D'Asdia, M. C., Petrucci, S., Mattina, T., Rella, A., Cassina, M., Bengala, M., Biagini, T., Causio, F. A., Caldarini, C., Brancati, F., De Luca, A., Guarnieri, V., Micale, L. & 2 others, D'Agruma, L. & Castori, M., Jul 1 2019, In : Human Molecular Genetics. 28, 13, p. 2133-2142 10 p.

    Research output: Contribution to journalArticle