BRUNO LUCIA PIA
Pubblicazioni
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
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
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
Bosch, E., Popp, B., Güse, E., Skinner, C., van der Sluijs, P., Maystadt, I., et al. (2023). Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals. GENETICS IN MEDICINE, 25(11) [10.1016/j.gim.2023.100950]. Dettaglio