| An international, multicentered, evidence-based reappraisal of genes reported to cause congenital long QT syndrome A Adler, V Novelli, AS Amin, E Abiusi, M Care, EA Nannenberg, ... Circulation 141 (6), 418-428, 2020 | 295 | 2020 |
| Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death R Walsh, A Adler, AS Amin, E Abiusi, M Care, H Bikker, S Amenta, ... European heart journal 43 (15), 1500-1510, 2022 | 75 | 2022 |
| Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss EM Richard, S Bakhtiari, APL Marsh, R Kaiyrzhanov, M Wagner, S Shetty, ... The American Journal of Human Genetics 108 (10), 2006-2016, 2021 | 17 | 2021 |
| Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome S Amenta, S Frangella, G Marangi, S Lattante, S Ricciardi, PN Doronzio, ... Journal of Medical Genetics 59 (2), 189-195, 2022 | 7 | 2022 |
| CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories S Amenta, G Marangi, D Orteschi, S Frangella, F Gurrieri, E Paccagnella, ... European Journal of Human Genetics 31 (6), 648-653, 2023 | 5 | 2023 |
| Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels? E Lucci-Cordisco, S Amenta, A Panfili, J Del Valle, G Capellá, M Pineda, ... European journal of medical genetics 65 (1), 104400, 2022 | 5 | 2022 |
| Pyridoxine supplementation in PACS2-related encephalopathy: A case report of possible precision therapy M Perulli, M Picilli, I Contaldo, S Amenta, ML Gambardella, M Quintiliani, ... Seizure 105, 14-16, 2023 | 2 | 2023 |
| Bassa statura patologica e alterazioni del gene SHOX F Cambosu, L Ulgheri, G Nutile, S Amenta, G Soro, PM Campus, ... L'Endocrinologo 23 (5), 532-535, 2022 | | 2022 |
| Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype F Lo Vecchio, E Tabolacci, V Nobile, MG Pomponi, R Pietrobono, G Neri, ... Genes 13 (7), 1161, 2022 | | 2022 |
| Solving the unsolved: 4 years of experience of the Italian Telethon Undiagnosed Diseases Program R Castello, A Torella, M Morleo, M Pinelli, F Musacchia, A Varavallo, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 478-479, 2022 | | 2022 |
| Bi-allelic variants in SPATA5L1 lead to intellectual disability EM Richard, S Bakhtiari, APL Marsh, R Kaiyrzhanov, M Wagner, S Shetty, ... | | 2021 |
| Multiple genetic tumor syndromes: when to suspect them? F Brugnoletti, E Lucci-Cordisco, A Vaisfeld, A Panfili, S Amenta, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1570-1570, 2019 | | 2019 |
