| New candidates for autism/intellectual disability identified by whole-exome sequencing LP Bruno, G Doddato, F Valentino, M Baldassarri, R Tita, C Fallerini, ... International journal of molecular sciences 22 (24), 13439, 2021 | 47 | 2021 |
| Exome sequencing in 200 intellectual disability/autistic patients: New candidates and atypical presentations F Valentino, LP Bruno, G Doddato, A Giliberti, R Tita, S Resciniti, ... Brain Sciences 11 (7), 936, 2021 | 34 | 2021 |
| CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD L Pavinato, A Delle Vedove, D Carli, M Ferrero, S Carestiato, JL Howe, ... Brain 146 (2), 534-548, 2023 | 30 | 2023 |
| Natural history of KBG syndrome in a large European cohort L Loberti, LP Bruno, S Granata, G Doddato, S Resciniti, F Fava, M Carullo, ... Human molecular genetics 31 (24), 4131-4142, 2022 | 20 | 2022 |
| SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures A Khan, LP Bruno, F Alomar, M Umair, AM Pinto, AA Khan, A Khan, Saima, ... Frontiers in Molecular Neuroscience 15, 877258, 2022 | 18 | 2022 |
| Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes G Doddato, F Valentino, A Giliberti, FT Papa, R Tita, LP Bruno, S Resciniti, ... Frontiers in oncology 11, 649435, 2021 | 16 | 2021 |
| The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant M Aerden, AS Denommé-Pichon, D Bonneau, AL Bruel, J Delanne, ... European Journal of Human Genetics 31 (4), 461-468, 2023 | 14 | 2023 |
| Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals E Bosch, B Popp, E Güse, C Skinner, PJ van der Sluijs, I Maystadt, ... Genetics in Medicine 25 (11), 100950, 2023 | 7 | 2023 |
| Expanding the clinical spectrum associated with the PACS1 p. Arg203Trp mutational hot‐spot: Two additional Italian patients LP Bruno, G Doddato, M Baldassarri, CL Rizzo, S Resciniti, M Bruttini, ... American Journal of Medical Genetics. Part A 191 (1), 284, 2022 | 3 | 2022 |
| Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes G Doddato, F Valentino, A Giliberti, FT Papa, R Tita, LP Bruno, S Resciniti, ... Frontiers in Oncology 11, 740860, 2021 | 1 | 2021 |
| Patient preferences in genetic newborn screening for rare diseases: study protocol S Martin, E Angolini, J Audi, E Bertini, LP Bruno, J Coulter, A Ferlini, ... BMJ open 14 (4), e081835, 2024 | | 2024 |
| Establishing the neurodevelopmental phenotype and genotype-phenotype correlations in individuals with a TRIP12 mutation M Aerden, AS Denomme-Pichon, S Koene, A Piton, E Legius, M Theunis, ... European Journal Of Human Genetics 31, 446-446, 2023 | | 2023 |
| Identification of a Novel Pathogenic Variant in the NAGLU Gene in a Child with Neurodevelopmental Delay LP Bruno, F Fava, M Baldassarri, VM Salvati, V Scandurra, R Canitano, ... Journal of Autism and Developmental Disorders, 1-3, 2022 | | 2022 |
| A WES study in 200 intellectual disability/autism patients LP Bruno, G Doddato, F Valentino, A Giliberti, C Lo Rizzo, MA Mencarelli, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 257-257, 2022 | | 2022 |
| Exploring genetic bases of Intellectual disability and Autism: from Exome Sequencing on LP Bruno Università degli Studi di Siena, 2022 | | 2022 |
| Oncologic Multidisciplinary Team, Azienda Ospedaliera Universitaria Senese, Oncologic Multidisciplinary Team, Azienda Usl Toscana Sud Est, Mari F, Renieri A and Ariani F (2021 … G Doddato, F Valentino, A Giliberti, FT Papa, R Tita, LP Bruno, S Resciniti, ... Oncol 11, 649435, 2021 | | 2021 |
