BRUNO, LUCIA PIA
BRUNO, LUCIA PIA
DIPARTIMENTO DI MEDICINA E CHIRURGIA (SCHOOL OF MEDICINE AND SURGERY)
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
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
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
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
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