| eDGAR: a database of Disease-Gene Associations with annotated Relationships among genes G Babbi, PL Martelli, G Profiti, S Bovo, C Savojardo, R Casadio BMC genomics 18, 25-34, 2017 | 64 | 2017 |
| Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges R Daneshjou, Y Wang, Y Bromberg, S Bovo, PL Martelli, G Babbi, ... Human mutation 38 (9), 1182-1192, 2017 | 49 | 2017 |
| Mutant MYO1F alters the mitochondrial network and induces tumor proliferation in thyroid cancer C Diquigiovanni, C Bergamini, C Evangelisti, F Isidori, A Vettori, N Tiso, ... International journal of cancer 143 (7), 1706-1719, 2018 | 46 | 2018 |
| Large scale analysis of protein stability in OMIM disease related human protein variants PL Martelli, P Fariselli, C Savojardo, G Babbi, F Aggazio, R Casadio BMC genomics 17, 239-247, 2016 | 39 | 2016 |
| Evaluating the predictions of the protein stability change upon single amino acid substitutions for the FXN CAGI5 challenge C Savojardo, M Petrosino, G Babbi, S Bovo, C Corbi‐Verge, R Casadio, ... Human mutation 40 (9), 1392-1399, 2019 | 18 | 2019 |
| Assessment of methods for predicting the effects of PTEN and TPMT protein variants V Pejaver, G Babbi, R Casadio, L Folkman, P Katsonis, K Kundu, ... Human mutation 40 (9), 1495-1506, 2019 | 18 | 2019 |
| Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants MS Cline, G Babbi, S Bonache, Y Cao, R Casadio, X de la Cruz, O Díez, ... Human Mutation 40 (9), 1546-1556, 2019 | 18 | 2019 |
| Benchmarking predictions of allostery in liver pyruvate kinase in CAGI4 Q Xu, Q Tang, P Katsonis, O Lichtarge, D Jones, S Bovo, G Babbi, ... Human Mutation 38 (9), 1123-1131, 2017 | 18 | 2017 |
| Assessment of predicted enzymatic activity of α‐N‐acetylglucosaminidase variants of unknown significance for CAGI 2016 WT Clark, L Kasak, C Bakolitsa, Z Hu, G Andreoletti, G Babbi, Y Bromberg, ... Human mutation 40 (9), 1519-1529, 2019 | 16 | 2019 |
| PhenPath: a tool for characterizing biological functions underlying different phenotypes G Babbi, PL Martelli, R Casadio BMC genomics 20, 1-11, 2019 | 15 | 2019 |
| Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer A Voskanian, P Katsonis, O Lichtarge, V Pejaver, P Radivojac, ... Human mutation 40 (9), 1612-1622, 2019 | 12 | 2019 |
| Functional and structural features of disease-related protein variants C Savojardo, G Babbi, PL Martelli, R Casadio International Journal of Molecular Sciences 20 (7), 1530, 2019 | 12 | 2019 |
| Assessing predictions on fitness effects of missense variants in calmodulin J Zhang, LN Kinch, Q Cong, P Katsonis, O Lichtarge, C Savojardo, ... Human mutation 40 (9), 1463-1473, 2019 | 11 | 2019 |
| CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases L Kasak, JM Hunter, R Udani, C Bakolitsa, Z Hu, AN Adhikari, G Babbi, ... Human Mutation 40 (9), 1373-1391, 2019 | 11 | 2019 |
| Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI‐5 AM Monzon, M Carraro, L Chiricosta, F Reggiani, J Han, K Ozturk, ... Human mutation 40 (9), 1474-1485, 2019 | 9 | 2019 |
| Mapping OMIM disease–related variations on protein domains reveals an association among variation type, Pfam models, and disease classes C Savojardo, G Babbi, PL Martelli, R Casadio Frontiers in molecular biosciences 8, 617016, 2021 | 7 | 2021 |
| Are machine learning based methods suited to address complex biological problems? Lessons from CAGI‐5 challenges C Savojardo, G Babbi, S Bovo, E Capriotti, PL Martelli, R Casadio Human mutation 40 (9), 1455-1462, 2019 | 7 | 2019 |
| Resources and tools for rare disease variant interpretation L Licata, A Via, P Turina, G Babbi, S Benevenuta, C Carta, R Casadio, ... Frontiers in Molecular Biosciences 10, 1169109, 2023 | 5 | 2023 |
| Mouse genomic associations with in vitro sensitivity to simulated space radiation E Cekanaviciute, D Tran, H Nguyen, AL Macha, E Pariset, S Langley, ... Life Sciences in Space Research 36, 47-58, 2023 | 5 | 2023 |
| Mapping human disease-associated enzymes into Reactome allows characterization of disease groups and their interactions C Savojardo, D Baldazzi, G Babbi, PL Martelli, R Casadio Scientific Reports 12 (1), 17963, 2022 | 5 | 2022 |
