Savojardo C.; Babbi G.; Martelli P.L.; Casadio R., Mapping OMIM Disease–Related Variations on Protein Domains Reveals an Association Among Variation Type, Pfam Models, and Disease Classes, «FRONTIERS IN MOLECULAR BIOSCIENCES», 2021, 8, Article number: 617016, pp. 1 - 9 [articolo]Open Access
Babbi G.; Baldazzi D.; Savojardo C.; Martelli P.L.; Casadio R., Highlighting human enzymes active in different metabolic pathways and diseases: The case study of EC 1.2.3.1 and EC 2.3.1.9, «BIOMEDICINES», 2020, 8, Article number: 250, pp. 250 - 262 [articolo]Open Access
Savojardo, Castrense; Babbi, Giulia; Bovo, Samuele; Capriotti, Emidio; Martelli, Pier Luigi; Casadio, Rita, Are machine learning based methods suited to address complex biological problems? Lessons from CAGI-5 challenges, «HUMAN MUTATION», 2019, 40, pp. 1455 - 1462 [articolo]
Zhang J.; Kinch L.N.; Cong Q.; Katsonis P.; Lichtarge O.; Savojardo C.; Babbi G.; Martelli P.L.; Capriotti E.; Casadio R.; Garg A.; Pal D.; Weile J.; Sun S.; Verby M.; Roth F.P.; Grishin N.V., Assessing predictions on fitness effects of missense variants in calmodulin, «HUMAN MUTATION», 2019, 40, pp. 1463 - 1473 [articolo]
Voskanian A.; Katsonis P.; Lichtarge O.; Pejaver V.; Radivojac P.; Mooney S.D.; Capriotti E.; Bromberg Y.; Wang Y.; Miller M.; Martelli P.L.; Savojardo C.; Babbi G.; Casadio R.; Cao Y.; Sun Y.; Shen Y.; Garg A.; Pal D.; Yu Y.; Huff C.D.; Tavtigian S.V.; Young E.; Neuhausen S.L.; Ziv E.; Pal L.R.; Andreoletti G.; Brenner S.E.; Kann M.G., Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer, «HUMAN MUTATION», 2019, 40, pp. 1612 - 1622 [articolo]
Melissa S. Cline,Giulia Babbi,Sandra Bonache,Yue Cao,Rita Casadio,Xavier de la Cruz,Orland Díez,Sara Gutiérrez‐Enríquez,Panagiotis Katsonis,Carmen Lai,Olivier Lichtarge,Pier L. Martelli,Gilad Mishne,Alejandro Moles‐Fernández,Gemma Montalban,Sean D. Mooney,Robert O'Conner,Lars Ootes,Selen Özkan,Natalia Padilla,Kymberleigh A. Pagel,Vikas Pejaver,Predrag Radivojac,Casandra Riera,Castrense Savojardo,Yang Shen,Yuanfei Sun,Scott Topper,Michael T. Parsons,Amanda B. Spurdle,David E. Goldgar,The ENIGMA Consortium, Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants, «HUMAN MUTATION», 2019, 40, pp. 1546 - 1556 [articolo]
Pejaver V.; Babbi G.; Casadio R.; Folkman L.; Katsonis P.; Kundu K.; Lichtarge O.; Martelli P.L.; Miller M.; Moult J.; Pal L.R.; Savojardo C.; Yin Y.; Zhou Y.; Radivojac P.; Bromberg Y., Assessment of methods for predicting the effects of PTEN and TPMT protein variants, «HUMAN MUTATION», 2019, 40, pp. 1495 - 1506 [articolo]
Clark W.T.; Kasak L.; Bakolitsa C.; Hu Z.; Andreoletti G.; Babbi G.; Bromberg Y.; Casadio R.; Dunbrack R.; Folkman L.; Ford C.T.; Jones D.; Katsonis P.; Kundu K.; Lichtarge O.; Martelli P.L.; Mooney S.D.; Nodzak C.; Pal L.R.; Radivojac P.; Savojardo C.; Shi X.; Zhou Y.; Uppal A.; Xu Q.; Yin Y.; Pejaver V.; Wang M.; Wei L.; Moult J.; Yu G.K.; Brenner S.E.; LeBowitz J.H., Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016, «HUMAN MUTATION», 2019, 40, pp. 1519 - 1529 [articolo]
Kasak L.; Hunter J.M.; Udani R.; Bakolitsa C.; Hu Z.; Adhikari A.N.; Babbi G.; Casadio R.; Gough J.; Guerrero R.F.; Jiang Y.; Joseph T.; Katsonis P.; Kotte S.; Kundu K.; Lichtarge O.; Martelli P.L.; Mooney S.D.; Moult J.; Pal L.R.; Poitras J.; Radivojac P.; Rao A.; Sivadasan N.; Sunderam U.; Saipradeep V.G.; Yin Y.; Zaucha J.; Brenner S.E.; Meyn M.S., CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases, «HUMAN MUTATION», 2019, 40, pp. 1373 - 1391 [articolo]
Savojardo C.; Petrosino M.; Babbi G.; Bovo S.; Corbi-Verge C.; Casadio R.; Fariselli P.; Folkman L.; Garg A.; Karimi M.; Katsonis P.; Kim P.M.; Lichtarge O.; Martelli P.L.; Pasquo A.; Pal D.; Shen Y.; Strokach A.V.; Turina P.; Zhou Y.; Andreoletti G.; Brenner S.E.; Chiaraluce R.; Consalvi V.; Capriotti E., Evaluating the predictions of the protein stability change upon single amino acid substitutions for the FXN CAGI5 challenge, «HUMAN MUTATION», 2019, 40, pp. 1392 - 1399 [articolo]Open Access
Savojardo, Castrense; Babbi, Giulia; Martelli, Pier Luigi; Casadio, Rita, Functional and Structural Features of Disease-Related Protein Variants, «INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES», 2019, 20, Article number: 1530, pp. 1530 - 1544 [articolo]Open Access
Monzon A.M.; Carraro M.; Chiricosta L.; Reggiani F.; Han J.; Ozturk K.; Wang Y.; Miller M.; Bromberg Y.; Capriotti E.; Savojardo C.; Babbi G.; Martelli P.L.; Casadio R.; Katsonis P.; Lichtarge O.; Carter H.; Kousi M.; Katsanis N.; Andreoletti G.; Moult J.; Brenner S.E.; Ferrari C.; Leonardi E.; Tosatto S.C.E., Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI-5, «HUMAN MUTATION», 2019, 40, pp. 1474 - 1485 [articolo]
Babbi G, Martelli P, Casadio R, PhenPath: A tool for characterizing biological functions underlying different phenotypes, «BMC GENOMICS», 2019, 20, Article number: 548, pp. 1 - 11 [articolo]Open Access
Diquigiovanni, Chiara; Bergamini, Christian; Evangelisti, Cecilia; Isidori, Federica; Vettori, Andrea; Tiso, Natascia; Argenton, Francesco; Costanzini, Anna; Iommarini, Luisa; Anbunathan, Hima; Pagotto, Uberto; Repaci, Andrea; Babbi, Giulia; Casadio, Rita; Lenaz, Giorgio; Rhoden, Kerry J.; Porcelli, Anna Maria; Fato, Romana; Bowcock, Anne; Seri, Marco; Romeo, Giovanni; Bonora, Elena, Mutant MYO1F alters the mitochondrial network and induces tumor proliferation in thyroid cancer, «INTERNATIONAL JOURNAL OF CANCER», 2018, 143, pp. 1706 - 1719 [articolo]Open Access
Giulia Babbi, Pier Luigi Martelli, Giuseppe Profiti, Samuele Bovo, Castrense Savojardo, Rita Casadio, Analysing the relations among genes and polygenic diseases with eDGAR, in: F1000Research, 2017(atti di: NGS 2017, Barcellona (Spain), 3-4-5 Aprile 2017) [atti di convegno-poster]
