BRUNO LUCIA PIA

Di Majo, B., Leoni, C., Cartisano, E., Fossati, C., Viscogliosi, G., Trevisan, V., et al. (2025). Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort. FRONTIERS IN IMMUNOLOGY, 16 [10.3389/fimmu.2025.1598896]. Dettaglio

Engel, C., Rendek, M., Assoumani, J., Argilli, E., Ariani, F., Avice-Denizet, A., et al. (2025). Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization. EUROPEAN JOURNAL OF HUMAN GENETICS, 33(8), 898-996 [10.1038/s41431-025-01884-z]. Dettaglio

Martin, S., Angolini, E., Audi, J., Bertini, E., Bruno, L., Coulter, J., et al. (2024). Patient preferences in genetic newborn screening for rare diseases: study protocol. BMJ OPEN, 14(4) [10.1136/bmjopen-2023-081835]. Dettaglio

Aerden, M., Denommé-Pichon, A., Bonneau, D., Bruel, A., Delanne, J., Gérard, B., et al. (2023). The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant. EUROPEAN JOURNAL OF HUMAN GENETICS, 31(4), 461-468 [10.1038/s41431-023-01307-x]. Dettaglio

Bruno, L., Doddato, G., Baldassarri, M., Lo Rizzo, C., Resciniti, S., Bruttini, M., et al. (2023). Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, 191(1), 284-288 [10.1002/ajmg.a.62984]. Dettaglio