20072019

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

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

  • Open Access
  • Clinical and neurobehavioral features of three novel kabuki syndrome patients with mosaic KMT2D mutations and a review of literature

    Lepri, F. R., Cocciadiferro, D., Augello, B., Alfieri, P., Pes, V., Vancini, A., Caciolo, C., Squeo, G. M., Malerba, N., Adipietro, I., Novelli, A., Sotgiu, S., Gherardi, R., Digilio, M. C., Dallapiccola, B. & Merla, G., Jan 1 2018, In : International Journal of Molecular Sciences. 19, 1, 82.

    Research output: Contribution to journalArticle