BRUNO LUCIA PIA

Ruolo:
Ricercatrice a tempo determinato
Settore scientifico disciplinare:
Genetica medica (MEDS-01/A)
Gruppo scientifico disciplinare:
GENETICA MEDICA (06/MEDS-01)

Pubblicazioni

  • 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 [10.1038/s41431-025-01884-z]. Dettaglio

  • 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

  • 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

  • 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

  • Pavinato, L., Delle Vedove, A., Carli, D., Ferrero, M., Carestiato, S., Howe, J., et al. (2023). CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD. BRAIN, 146(2), 534-548 [10.1093/brain/awac278]. Dettaglio