BRUNO, LUCIA PIA
BRUNO, LUCIA PIA
DIPARTIMENTO DI MEDICINA E CHIRURGIA (SCHOOL OF MEDICINE AND SURGERY)
Patient preferences in genetic newborn screening for rare diseases: study protocol
2024 Martin, S; Angolini, E; Audi, J; Bertini, E; Bruno, L; Coulter, J; Ferlini, A; Fortunato, F; Frankova, V; Garnier, N; Grauman, A; Gross, E; Hauber, B; Hansson, M; Kirschner, J; Knieling, F; Kyosovksa, G; Ottombrino, S; Novelli, A; Raming, R; Sansen, S; Saier, C; Veldwijk, J
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD
2023 Pavinato, L; Delle Vedove, A; Carli, D; Ferrero, M; Carestiato, S; Howe, J; Agolini, E; Coviello, D; Van De Laar, I; Au, P; Di Gregorio, E; Fabbiani, A; Croci, S; Mencarelli, M; Bruno, L; Renieri, A; Veltra, D; Sofocleous, C; Faivre, L; Mazel, B; Safraou, H; DenommCrossed D signCopyright-Pichon, A; Van Slegtenhorst, M; Giesbertz, N; Van Jaarsveld, R; Childers, A; Rogers, R; Novelli, A; De Rubeis, S; Buxbaum, J; Scherer, S; Ferrero, G; Wirth, B; Brusco, A
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
2023 Bosch, E; Popp, B; Güse, E; Skinner, C; van der Sluijs, P; Maystadt, I; Pinto, A; Renieri, A; Bruno, L; Granata, S; Marcelis, C; Baysal, Ö; Hartwich, D; Holthöfer, L; Isidor, B; Cogne, B; Wieczorek, D; Capra, V; Scala, M; De Marco, P; Ognibene, M; Jamra, R; Platzer, K; Carter, L; Kuismin, O; van Haeringen, A; Maroofian, R; Valenzuela, I; Cuscó, I; Martinez-Agosto, J; Rabani, A; Mefford, H; Pereira, E; Close, C; Anyane-Yeboa, K; Wagner, M; Hannibal, M; Zacher, P; Thiffault, I; Beunders, G; Umair, M; Bhola, P; Mcginnis, E; Millichap, J; van de Kamp, J; Prijoles, E; Dobson, A; Shillington, A; Graham, B; Garcia, E; Galindo, M; Ropers, F; Nibbeling, E; Hubbard, G; Karimov, C; Goj, G; Bend, R; Rath, J; Morrow, M; Millan, F; Salpietro, V; Torella, A; Nigro, V; Kurki, M; Stevenson, R; Santen, G; Zweier, M; Campeau, P; Severino, M; Reis, A; Accogli, A; Vasileiou, G
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients
2023 Bruno, L; Doddato, G; Baldassarri, M; Lo Rizzo, C; Resciniti, S; Bruttini, M; Mirjam, L; Zguro, K; Furini, S; Mencarelli, M; Renieri, A; Ariani, F
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
2023 Aerden, M; Denommé-Pichon, A; Bonneau, D; Bruel, A; Delanne, J; Gérard, B; Mazel, B; Philippe, C; Pinson, L; Prouteau, C; Putoux, A; Tran Mau-Them, F; Viora-Dupont, É; Vitobello, A; Ziegler, A; Piton, A; Isidor, B; Francannet, C; Maillard, P; Julia, S; Philippe, A; Schaefer, E; Koene, S; Ruivenkamp, C; Hoffer, M; Legius, E; Theunis, M; Keren, B; Buratti, J; Charles, P; Courtin, T; Misra-Isrie, M; van Haelst, M; Waisfisz, Q; Wieczorek, D; Schmetz, A; Herget, T; Kortüm, F; Lisfeld, J; Debray, F; Bramswig, N; Atallah, I; Fodstad, H; Jouret, G; Almoguera, B; Tahsin-Swafiri, S; Santos-Simarro, F; Palomares-Bralo, M; López-González, V; Kibaek, M; Tørring, P; Renieri, A; Bruno, L; Õunap, K; Wojcik, M; Hsieh, T; Krawitz, P; Van Esch, H
Identification of a Novel Pathogenic Variant in the NAGLU Gene in a Child with Neurodevelopmental Delay
2022 Bruno, L; Fava, F; Baldassarri, M; M Salvati, V; Scandurra, V; Canitano, R; Valentino, F; Doddato, G; Tita, R; Giliberti, A; Renieri, A; Ariani., F
Natural history of KBG syndrome in a large European cohort
2022 Loberti, L; Bruno, L; Granata, S; Doddato, G; Resciniti, S; Fava, F; Carullo, M; Rahikkala, E; Jouret, G; Menke, L; Lederer, D; Vrielynck, P; Ryba, L; Brunetti-Pierri, N; Lasa-Aranzasti, A; Cueto-González, A; Trujillano, L; Valenzuela, I; Tizzano, E; Spinelli, A; Bruno, I; Currò, A; Stanzial, F; Benedicenti, F; Lopergolo, D; Santorelli, F; Aristidou, C; Tanteles, G; Maystadt, I; Tkemaladze, T; Reimand, T; Lokke, H; Õunap, K; Haanpää, M; Holubová, A; Zoubková, V; Schwarz, M; Žordania, R; Muru, K; Roht, L; Tihveräinen, A; Teek, R; Thomson, U; Isis, A; Superti-Furga, A; Buoni, S; Canitano, R; Scandurra, V; Rossetti, A; Grosso, S; Battini, R; Baldassarri, M; Mencarelli, M; Rizzo, C; Bruttini, M; Mari, F; Ariani, F; Renieri, A; Pinto, A
SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures
2022 Khan, A; Bruno, L; Alomar, F; Umair, M; Pinto, A; Khan, A; Khan, A; Saima, ; Fabbiani, A; Zguro, K; Furini, S; Mencarelli, M; Renieri, A; Resciniti, S; Pena-Guerra, K; Guzman-Vega, F; Arold, S; Ariani, F; Khan, S
Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes (Front. Oncol., (2021), 11, 10.3389/fonc.2021.649435)
2021 Doddato, G; Valentino, F; Giliberti, A; Papa, F; Tita, R; Bruno, L; Resciniti, S; Fallerini, C; Benetti, E; Palmieri, M; Mencarelli, M; Fabbiani, A; Bruttini, M; Orrico, A; Baldassarri, M; Fava, F; Lopergolo, D; Rizzo, C; Lamacchia, V; Mannucci, S; Pinto, A; Curro, A; Mancini, V; Mari, F; Renieri, A; Ariani, F
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations
2021 Valentino, F; Bruno, L; Doddato, G; Giliberti, A; Tita, R; Resciniti, S; Fallerini, C; Bruttini, M; Lo Rizzo, C; Mencarelli, M; Mari, F; Pinto, A; Fava, F; Baldassarri, M; Fabbiani, A; Lamacchia, V; Benetti, E; Zguro, K; Furini, S; Renieri, A; Ariani, F
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes
2021 Doddato, G; Valentino, F; Giliberti, A; Papa, F; Tita, R; Bruno, L; Resciniti, S; Fallerini, C; Benetti, E; Palmieri, M; Mencarelli, M; Fabbiani, A; Bruttini, M; Orrico, A; Baldassarri, M; Fava, F; Lopergolo, D; Lo Rizzo, C; Lamacchia, V; Mannucci, S; Pinto, A; Curro, A; Mancini, V; Mari, F; Renieri, A; Ariani, F
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing
2021 Bruno, L; Doddato, G; Valentino, F; Baldassarri, M; Tita, R; Fallerini, C; Bruttini, M; Rizzo, C; Mencarelli, M; Mari, F; Pinto, A; Fava, F; Fabbiani, A; Lamacchia, V; Carrer, A; Caputo, V; Granata, S; Benetti, E; Zguro, K; Furini, S; Renieri, A; Ariani, F