| Expanding the clinical phenotype of SHANK2-related disorders: childhood apraxia of speech in a patient with a novel SHANK2 pathogenic variant E Granocchio, L Andreoli, S Magazù, D Sarti, E Leonardi, A Murgia, ... European Child & Adolescent Psychiatry, 1-3, 2024 | | 2024 |
| CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods S Jain, C Bakolitsa, SE Brenner, P Radivojac, J Moult, S Repo, ... Genome Biology 25 (1), 2024 | 3 | 2024 |
| P21. 005. A CHD8 missense variants cause a variable neurodevelopmental disorder with incomplete penetrance M Godfrey, M Levy, E Leonardi, C Campbell, L Demain, S Jenkinson, ... European Journal of Human Genetics 32 (Supplement 1), 721, 2024 | | 2024 |
| DisProt in 2024: improving function annotation of intrinsically disordered proteins MC Aspromonte, MV Nugnes, F Quaglia, A Bouharoua, SCE Tosatto, ... Nucleic Acids Research 52 (D1), D434-D441, 2024 | 17 | 2024 |
| PED in 2024: improving the community deposition of structural ensembles for intrinsically disordered proteins H Ghafouri, T Lazar, A Del Conte, LG Tenorio Ku, P Tompa, SCE Tosatto, ... Nucleic acids research 52 (D1), D536-D544, 2024 | 17 | 2024 |
| Critical assessment of genome interpretation consortium. CAGI, the critical assessment of genome interpretation, establishes progress and pprospects for computational genetic … S Jain, C Bakolitsa, EB Steven, P Radivojac, J Moult, S Repo, AH Roger, ... Genome Biology 22 (22; 25 (1): 53.), 1-46, 2024 | | 2024 |
| Clinical and molecular characterization of FOXP1 variants in subjects with neurodevelopmental disorders E Bettella, D Drongitis, R Polli, L Verrillo, E Leonardi, M Cameran, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 187-187, 2024 | | 2024 |
| Best practices for the manual curation of intrinsically disordered proteins in DisProt F Quaglia, A Chasapi, MV Nugnes, MC Aspromonte, E Leonardi, ... Database 2024, baae009, 2024 | 1 | 2024 |
| CAGI6 ID-Challenge: Assessment of phenotype and variant predictions in 415 children with Neurodevelopmental Disorders (NDDs) MC Aspromonte, A Del Conte, S Zhu, W Tan, Y Shen, Y Zhang, Q Li, ... Research Square, 2023 | | 2023 |
| Rare variants in 45 genes account for 25% of cases with NDDs in 415 pediatric patients MC Aspromonte, A Del Conte, R Polli, D Baldo, F Benedicenti, E Bettella, ... | 1 | 2023 |
| CERT1 mutations perturb human development by disrupting sphingolipid homeostasis C Gehin, MA Lone, W Lee, L Capolupo, S Ho, AM Adeyemi, EH Gerkes, ... The Journal of clinical investigation 133 (10), 2023 | 17 | 2023 |
| Dna Methylation Episignatures are Sensitive and Specific Biomarkers for Detection of Patients with Kat6A/Kat6B Variants N Vos, J Reilly, MW Elting, PM Campeau, D Coman, Z Stark, TY Tan, ... Epigenomics 15 (6), 351-367, 2023 | 4 | 2023 |
| Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants E Leonardi, MC Aspromonte, D Drongitis, E Bettella, L Verrillo, R Polli, ... European Journal of Human Genetics 31 (2), 202-215, 2023 | 7 | 2023 |
| Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome MA Cousin, EL Veale, NR Dsouza, S Tripathi, RG Holden, M Arelin, ... Genome medicine 14 (1), 62, 2022 | 14 | 2022 |
| Molecular Effects of Mutations in Human Genetic Diseases E Leonardi, C Savojardo, G Minervini International Journal of Molecular Sciences 23 (12), 6408, 2022 | | 2022 |
| DisProt in 2022: improved quality and accessibility of protein intrinsic disorder annotation F Quaglia, B Mészáros, E Salladini, A Hatos, R Pancsa, LB Chemes, ... Nucleic acids research 50 (D1), D480-D487, 2022 | 136 | 2022 |
| Feasibility of screening for chromosome 15 imprinting disorders in 16 579 newborns by using a novel genomic workflow DE Godler, L Ling, D Gamage, EK Baker, M Bui, MJ Field, C Rogers, ... JAMA network open 5 (1), e2141911-e2141911, 2022 | 18 | 2022 |
| A missense de novo variant in the CASK-interactor KIRREL3 gene leading to neurodevelopmental disorder with mild cerebellar hypoplasia C Ciaccio, E Leonardi, R Polli, A Murgia, S D'Arrigo, E Granocchio, ... Neuropediatrics 52 (06), 484-488, 2021 | 6 | 2021 |
| Rett syndrome and kat6a-related disorders: Chromatinopathies with overlapping clinical trajectories E Savva, MC Torres, M Marty, T Zhao, J Christodoulou, WA Gold, ... Twin Research and Human Genetics, 2021 | | 2021 |
| Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy” E Leonardi, E Bettella, MF Pelizza, MC Aspromonte, R Polli, C Boniver, ... Frontiers in Neurology 11, 593446, 2020 | 19 | 2020 |
Silvio TosattoFull Professor of Bioinformatics, Department of Biomedical Sciences, University of Padua在 unipd.it 的电子邮件经过验证
