Sfoglia per Autore
Large scale analysis of protein stability in OMIM disease related human protein variants
2016 Martelli, Pier Luigi; Fariselli, Piero; Savojardo, Castrense; Babbi, Giulia; Aggazio, Francesco; Casadio, Rita
Analysing the relations among genes and polygenic diseases with eDGAR
2017 Giulia Babbi, Pier Luigi Martelli, Giuseppe Profiti, Samuele Bovo, Castrense Savojardo, Rita Casadio
Benchmarking predictions of allostery in liver pyruvate kinase in CAGI4
2017 Xu, Qifang; Tang, Qingling; Katsonis, Panagiotis; Lichtarge, Olivier; Jones, David; Bovo, Samuele; Babbi, Giulia; Martelli, Pier L.; Casadio, Rita; Lee, Gyu Rie; Seok, Chaok; Fenton, Aron W; Dunbrack, Roland L.
eDGAR: a database of Disease-Gene Associations with annotated Relationships among genes
2017 Babbi, Giulia; Martelli, Pier Luigi; Profiti, Giuseppe; Bovo, Samuele; Savojardo, Castrense; Casadio, Rita
The eDGAR database of Disease-Gene Associations with annotated Relationships among genes
2017 Babbi, Giulia; Martelli, Pier Luigi; Profiti, Giuseppe; Bovo, Samuele; Savojardo, Castrense; Casadio, Rita
Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges
2017 Daneshjou, Roxana; Wang, Yanran; Bromberg, Yana; Bovo, Samuele; Martelli, Pier L; Babbi, Giulia; Pietro Di, Lena; Casadio, Rita; Edwards, Matthew; Gifford, David; Jones, David T; Sundaram, Laksshman; Bhat, Rajendra Rana; Xiaolin, Li; Pal, Lipika R.; Kundu, Kunal; Yin, Yizhou; Moult, John; Jiang, Yuxiang; Pejaver, Vikas; Pagel, Kymberleigh A.; Biao, Li; Mooney, Sean D.; Radivojac, Predrag; Shah, Sohela; Carraro, Marco; Gasparini, Alessandra; Leonardi, Emanuela; Giollo, Manuel; Ferrari, Carlo; Tosatto, Silvio C E; Bachar, Eran; Azaria, Johnathan R.; Ofran, Yanay; Unger, Ron; Niroula, Abhishek; Vihinen, Mauno; Chang, Billy; Wang, Maggie H; Franke, Andre; Petersen, Britt-Sabina; Pirooznia, Mehdi; Zandi, Peter; Mccombie, Richard; Potash, James B.; Altman, Russ B.; Klein, Teri E.; Hoskins, Roger A.; Repo, Susanna; Brenner, Steven E.; Morgan, Alexander A.
Mutant MYO1F alters the mitochondrial network and induces tumor proliferation in thyroid cancer
2018 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
Assessing predictions on fitness effects of missense variants in calmodulin
2019 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 the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer
2019 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.
Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016
2019 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.
Are machine learning based methods suited to address complex biological problems? Lessons from CAGI-5 challenges
2019 Savojardo, Castrense; Babbi, Giulia; Bovo, Samuele; Capriotti, Emidio; Martelli, Pier Luigi; Casadio, Rita
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases
2019 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.
Evaluating the predictions of the protein stability change upon single amino acid substitutions for the FXN CAGI5 challenge
2019 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.
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants
2019 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
Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI-5
2019 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.
Assessment of methods for predicting the effects of PTEN and TPMT protein variants
2019 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.
PhenPath: A tool for characterizing biological functions underlying different phenotypes
2019 Babbi G, Martelli P, Casadio R
Functional and Structural Features of Disease-Related Protein Variants
2019 Savojardo, Castrense; Babbi, Giulia; Martelli, Pier Luigi; Casadio, Rita
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
2020 Babbi G.; Baldazzi D.; Savojardo C.; Martelli P.L.; Casadio R.
Mapping OMIM Disease–Related Variations on Protein Domains Reveals an Association Among Variation Type, Pfam Models, and Disease Classes
2021 Savojardo C.; Babbi G.; Martelli P.L.; Casadio R.
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| Large scale analysis of protein stability in OMIM disease related human protein variants | Martelli, Pier Luigi; Fariselli, Piero; Savojardo, Castrense; Babbi, Giulia; Aggazio, Francesco; ...Casadio, Rita | 2016-01-01 | BMC GENOMICS | - | 1.01 Articolo in rivista | - |
| Analysing the relations among genes and polygenic diseases with eDGAR | Giulia Babbi, Pier Luigi Martelli, Giuseppe Profiti, Samuele Bovo, Castrense Savojardo, Rita Casadio | 2017-01-01 | - | - | 4.03 Poster | - |
| Benchmarking predictions of allostery in liver pyruvate kinase in CAGI4 | Xu, Qifang; Tang, Qingling; Katsonis, Panagiotis; Lichtarge, Olivier; Jones, David; Bovo, Samuele...; Babbi, Giulia; Martelli, Pier L.; Casadio, Rita; Lee, Gyu Rie; Seok, Chaok; Fenton, Aron W; Dunbrack, Roland L. | 2017-01-01 | HUMAN MUTATION | - | 1.01 Articolo in rivista | - |
| eDGAR: a database of Disease-Gene Associations with annotated Relationships among genes | Babbi, Giulia; Martelli, Pier Luigi; Profiti, Giuseppe; Bovo, Samuele; Savojardo, Castrense; Casa...dio, Rita | 2017-01-01 | BMC GENOMICS | - | 1.01 Articolo in rivista | s12864-017-3911-3.pdf |
| The eDGAR database of Disease-Gene Associations with annotated Relationships among genes | Babbi, Giulia; Martelli, Pier Luigi; Profiti, Giuseppe; Bovo, Samuele; Savojardo, Castrense; Casa...dio, Rita | 2017-01-01 | - | - | 7.05 Banche dati | - |
| Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges | Daneshjou, Roxana; Wang, Yanran; Bromberg, Yana; Bovo, Samuele; Martelli, Pier L; Babbi, Giulia; ...Pietro Di, Lena; Casadio, Rita; Edwards, Matthew; Gifford, David; Jones, David T; Sundaram, Laksshman; Bhat, Rajendra Rana; Xiaolin, Li; Pal, Lipika R.; Kundu, Kunal; Yin, Yizhou; Moult, John; Jiang, Yuxiang; Pejaver, Vikas; Pagel, Kymberleigh A.; Biao, Li; Mooney, Sean D.; Radivojac, Predrag; Shah, Sohela; Carraro, Marco; Gasparini, Alessandra; Leonardi, Emanuela; Giollo, Manuel; Ferrari, Carlo; Tosatto, Silvio C E; Bachar, Eran; Azaria, Johnathan R.; Ofran, Yanay; Unger, Ron; Niroula, Abhishek; Vihinen, Mauno; Chang, Billy; Wang, Maggie H; Franke, Andre; Petersen, Britt-Sabina; Pirooznia, Mehdi; Zandi, Peter; Mccombie, Richard; Potash, James B.; Altman, Russ B.; Klein, Teri E.; Hoskins, Roger A.; Repo, Susanna; Brenner, Steven E.; Morgan, Alexander A. | 2017-01-01 | HUMAN MUTATION | - | 1.01 Articolo in rivista | nihms885554.pdf |
| Mutant MYO1F alters the mitochondrial network and induces tumor proliferation in thyroid cancer | Diquigiovanni, Chiara; Bergamini, Christian; Evangelisti, Cecilia; Isidori, Federica; Vettori, An...drea; 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 | 2018-01-01 | INTERNATIONAL JOURNAL OF CANCER | - | 1.01 Articolo in rivista | int journal cancer.pdf |
| Assessing predictions on fitness effects of missense variants in calmodulin | 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. | 2019-01-01 | HUMAN MUTATION | - | 1.01 Articolo in rivista | - |
| Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer | Voskanian A.; Katsonis P.; Lichtarge O.; Pejaver V.; Radivojac P.; Mooney S.D.; Capriotti E.; Bro...mberg 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. | 2019-01-01 | HUMAN MUTATION | - | 1.01 Articolo in rivista | - |
| Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016 | Clark W.T.; Kasak L.; Bakolitsa C.; Hu Z.; Andreoletti G.; Babbi G.; Bromberg Y.; Casadio R.; Dun...brack 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. | 2019-01-01 | HUMAN MUTATION | - | 1.01 Articolo in rivista | - |
| Are machine learning based methods suited to address complex biological problems? Lessons from CAGI-5 challenges | Savojardo, Castrense; Babbi, Giulia; Bovo, Samuele; Capriotti, Emidio; Martelli, Pier Luigi; Casa...dio, Rita | 2019-01-01 | HUMAN MUTATION | - | 1.01 Articolo in rivista | - |
| CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases | 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. | 2019-01-01 | HUMAN MUTATION | - | 1.01 Articolo in rivista | - |
| Evaluating the predictions of the protein stability change upon single amino acid substitutions for the FXN CAGI5 challenge | 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. | 2019-01-01 | HUMAN MUTATION | - | 1.01 Articolo in rivista | Savojardo_et_al-2019-Human_Mutation(1).pdf |
| Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants | Melissa S. Cline,Giulia Babbi,Sandra Bonache,Yue Cao,Rita Casadio,Xavier de la Cruz,Orland Díez,S...ara 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 | 2019-01-01 | HUMAN MUTATION | - | 1.01 Articolo in rivista | - |
| Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI-5 | Monzon A.M.; Carraro M.; Chiricosta L.; Reggiani F.; Han J.; Ozturk K.; Wang Y.; Miller M.; Bromb...erg 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. | 2019-01-01 | HUMAN MUTATION | - | 1.01 Articolo in rivista | - |
| Assessment of methods for predicting the effects of PTEN and TPMT protein variants | 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. | 2019-01-01 | HUMAN MUTATION | - | 1.01 Articolo in rivista | - |
| PhenPath: A tool for characterizing biological functions underlying different phenotypes | Babbi G, Martelli P, Casadio R | 2019-01-01 | BMC GENOMICS | - | 1.01 Articolo in rivista | PhenPath.pdf |
| Functional and Structural Features of Disease-Related Protein Variants | Savojardo, Castrense; Babbi, Giulia; Martelli, Pier Luigi; Casadio, Rita | 2019-01-01 | INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES | - | 1.01 Articolo in rivista | ijms-20-01530.pdf |
| 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 | Babbi G.; Baldazzi D.; Savojardo C.; Martelli P.L.; Casadio R. | 2020-01-01 | BIOMEDICINES | - | 1.01 Articolo in rivista | biomedicines-08-00250(2).pdf; Supplementary Materials.pdf |
| Mapping OMIM Disease–Related Variations on Protein Domains Reveals an Association Among Variation Type, Pfam Models, and Disease Classes | Savojardo C.; Babbi G.; Martelli P.L.; Casadio R. | 2021-01-01 | FRONTIERS IN MOLECULAR BIOSCIENCES | - | 1.01 Articolo in rivista | fmolb-08-617016.pdf |
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