Montanucci, Ludovica; Martelli, Pier Luigi; Ben-Tal, Nir; Fariselli, Piero, A natural upper bound to the accuracy of predicting protein stability changes upon mutations, «BIOINFORMATICS», 2019, 35, pp. 1513 - 1517 [articolo]
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]
Kasak L.; Bakolitsa C.; Hu Z.; Yu C.; Rine J.; Dimster-Denk D.F.; Pandey G.; De Baets G.; Bromberg Y.; Cao C.; Capriotti E.; Casadio R.; Van Durme J.; Giollo M.; Karchin R.; Katsonis P.; Leonardi E.; Lichtarge O.; Martelli P.L.; Masica D.; Mooney S.D.; Olatubosun A.; Radivojac P.; Rousseau F.; Pal L.R.; Savojardo C.; Schymkowitz J.; Thusberg J.; Tosatto S.C.E.; Vihinen M.; Valiaho J.; Repo S.; Moult J.; Brenner S.E.; Friedberg I., Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants, «HUMAN MUTATION», 2019, 40, pp. 1530 - 1545 [articolo]
Mount S.M.; Avsec Z.; Carmel L.; Casadio R.; Celik M.H.; Chen K.; Cheng J.; Cohen N.E.; Fairbrother W.G.; Fenesh T.; Gagneur J.; Gotea V.; Holzer T.; Lin C.-F.; Martelli P.L.; Naito T.; Nguyen T.Y.D.; Savojardo C.; Unger R.; Wang R.; Yang Y.; Zhao H., Assessing predictions of the impact of variants on splicing in CAGI5, «HUMAN MUTATION», 2019, 40, pp. 1215 - 1224 [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, Castrense; Luchetti, Andrea*; Martelli, Pier Luigi; Casadio, Rita; Mantovani, Barbara, Draft genomes and genomic divergence of two Lepidurus tadpole shrimp species (Crustacea, Branchiopoda, Notostraca), «MOLECULAR ECOLOGY RESOURCES», 2019, 19, pp. 235 - 244 [articolo]Open Access
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
Vera Vendramin, Danara Ormanbekova, Simone Scalabrin, Davide Scaglione, Marco Maccaferri, Pier Luigi Martelli, Silvio Salvi, Irena Jurman, Rita Casadio, Federica Cattonaro, Roberto Tuberosa, Andrea Massi, Michele Morgante, Genomic tools for durum wheat breeding: de novo assembly of Svevo transcriptome and SNP discovery in elite germplasm, «BMC GENOMICS», 2019, 20, Article number: 278, pp. 1 - 16 [articolo]Open Access
Margherita Nannini, Giuseppe Tarantino , Valentina Indio, Gloria Ravegnini, Annalisa Astolfi, Milena Urbini, Antonio De Leo, Donatella Santini, Claudio Ceccarelli, Elisa Gruppioni, Annalisa Altimari, Paolo Castellucci, Stefano Fanti, Valerio Di Scioscio, Maristella Saponara, Lidia Gatto, Andrea Pession, Pier Luigi Martelli, Rita Casadio, Maria Abbondanza Pantaleo, Molecular modelling evaluation of exon 18 His845_Asn848delinsPro pDGFRα mutation in a metastatic GIST patient responding to imatinib, «SCIENTIFIC REPORTS», 2019, 9, pp. 2172 - 2178 [articolo]Open Access
