Items where authors include "Bertoli, M."

Article

Cipriani, V. orcid.org/0000-0002-0839-9955, Vestito, L. orcid.org/0000-0003-0008-936X, Magavern, E.F. orcid.org/0000-0003-0699-6411 et al. (58 more authors) (2025) Rare disease gene association discovery in the 100,000 Genomes Project. Nature. ISSN 0028-0836

Copeland, H., Low, K.J., Wynn, S.L. et al. (89 more authors) (2024) Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders. Genetics in Medicine Open, 2. 101864. ISSN 2949-7744

Simeoni, I., Stephens, J.C., Hu, F. et al. (76 more authors) (2016) A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders. Blood, 127 (23). pp. 2791-2803. ISSN 0006-4971

Preprint

Copeland, H., Low, K.J., Wynn, S. et al. (89 more authors) (2023) Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders. [Preprint] (Submitted)