SANTORSOLA, MARIANGELA
SANTORSOLA, MARIANGELA
DIPARTIMENTO DI BIOLOGIA E BIOTECNOLOGIE "LAZZARO SPALLANZANI"
A comprehensive characterization of mitochondrial DNA mutations in glioblastoma multiforme
2015-01-01 Vidone, M.; Clima, R.; Santorsola, M.; Calabrese, C.; Girolimetti, G.; Kurelac, I.; Amato, L. B.; Iommarini, L.; Trevisan, E.; Leone, M.; Soffietti, R.; Morra, I.; Faccani, G.; Attimonelli, M.; Porcelli, A. M.; Gasparre, G.
A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest
2016-01-01 Santorsola, M.; Calabrese, C.; Girolimetti, G.; Diroma, M. A.; Gasparre, G.; Attimonelli, M.
Breast Cancer Organoids Model Patient-Specific Response to Drug Treatment
2020-01-01 Campaner, Elena; Zannini, Alessandro; Santorsola, Mariangela; Bonazza, Deborah; Bottin, Cristina; Cancila, Valeria; Tripodo, Claudio; Bortul, Marina; Zanconati, Fabrizio; Schoeftner, Stefan; Del Sal, Giannino
Extraction and annotation of human mitochondrial genomes from 1000 Genomes Whole Exome Sequencing data
2014-01-01 Diroma, Maria Angela; Calabrese, Claudia; Simone, Domenico; Santorsola, Mariangela; Calabrese, Francesco Maria; Gasparre, Giuseppe; Attimonelli, Marcella
hgtseq: A Standard Pipeline to Study Horizontal Gene Transfer
2022-01-01 Carpanzano, Simone; Santorsola, Mariangela; Nf-Core Community, Null; Lescai, Francesco
HmtDB 2016: data update, a better performing query system and human mitochondrial DNA haplogroup predictor
2017-01-01 Clima, Rosanna; Preste, Roberto; Calabrese, Claudia; Diroma, Maria Angela; Santorsola, Mariangela; Scioscia, Gaetano; Simone, Domenico; Shen, Lishuang; Gasparre, Giuseppe; Attimonelli, Marcella
Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities
2015-01-01 Falk, M. J.; Shen, L.; Gonzalez, M.; Leipzig, J.; Lott, M. T.; Stassen, A. P. M.; Diroma, M. A.; Navarro-Gomez, D.; Yeske, P.; Bai, R.; Boles, R. G.; Brilhante, V.; Ralph, D.; Dare, J. T.; Shelton, R.; Terry, S. F.; Zhang, Z.; Copeland, W. C.; van Oven, M.; Prokisch, H.; Wallace, D. C.; Attimonelli, M.; Krotoski, D.; Zuchner, S.; Gai, X.; Bale, S.; Bedoyan, J.; Behar, D.; Bonnen, P.; Brooks, L.; Calabrese, C.; Calvo, S.; Chinnery, P.; Christodoulou, J.; Church, D.; Clima, R.; Cohen, B. H.; Cotton, R. G.; de Coo, I. F. M.; Derbenevoa, O.; den Dunnen, J. T.; Dimmock, D.; Enns, G.; Gasparre, G.; Goldstein, A.; Gonzalez, I.; Gwinn, K.; Hahn, S.; Haas, R. H.; Hakonarson, H.; Hirano, M.; Kerr, D.; Li, D.; Lvova, M.; Macrae, F.; Maglott, D.; Mccormick, E.; Mitchell, G.; Mootha, V. K.; Okazaki, Y.; Pujol, A.; Parisi, M.; Perin, J. C.; Pierce, E. A.; Procaccio, V.; Rahman, S.; Reddi, H.; Rehm, H.; Riggs, E.; Rodenburg, R.; Rubinstein, Y.; Saneto, R.; Santorsola, M.; Scharfe, C.; Sheldon, C.; Shoubridge, E. A.; Simone, D.; Smeets, B.; Smeitink, J. A.; Stanley, C.; Suomalainen, A.; Tarnopolsky, M.; Thiffault, I.; Thorburn, D. R.; Hove, J. V.; Wolfe, L.; Wong, L. -J.
MToolBox: A highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing
2014-01-01 Calabrese, C.; Simone, D.; Diroma, M. A.; Santorsola, M.; Gutta, C.; Gasparre, G.; Picardi, E.; Pesole, G.; Attimonelli, M.
Prediction of Metabolic Profiles from Transcriptomics Data in Human Cancer Cell Lines
2022-01-01 Cavicchioli, M. V.; Santorsola, M.; Balboni, N.; Mercatelli, D.; Giorgi, F. M.
TGS1 mediates 2,2,7-trimethyl guanosine capping of the human telomerase RNA to direct telomerase dependent telomere maintenance
2022-01-01 Buemi, Valentina; Schillaci, Odessa; Santorsola, Mariangela; Bonazza, Deborah; Broccia, Pamela Veneziano; Zappone, Annie; Bottin, Cristina; Dell'Omo, Giulia; Kengne, Sylvie; Cacchione, Stefano; Raffa, Grazia Daniela; Piazza, Silvano; di Fagagna, Fabrizio d'Adda; Benetti, Roberta; Cortale, Maurizio; Zanconati, Fabrizio; Del Sal, Giannino; Schoeftner, Stefan
The prolyl-isomerase PIN1 is essential for nuclear Lamin-B structure and function and protects heterochromatin under mechanical stress
2021-01-01 Napoletano, F.; Ferrari Bravo, G.; Voto, I. A. P.; Santin, A.; Celora, L.; Campaner, E.; Dezi, C.; Bertossi, A.; Valentino, E.; Santorsola, M.; Rustighi, A.; Fajner, V.; Maspero, E.; Ansaloni, F.; Cancila, V.; Valenti, C. F.; Santo, M.; Artimagnella, O. B.; Finaurini, S.; Gioia, U.; Polo, S.; Sanges, R.; Tripodo, C.; Mallamaci, A.; Gustincich, S.; d'Adda di Fagagna, F.; Mantovani, F.; Specchia, V.; Del Sal, G.
The promise of explainable deep learning for omics data analysis: Adding new discovery tools to AI
2023-01-01 Santorsola, Mariangela; Lescai, Francesco
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A comprehensive characterization of mitochondrial DNA mutations in glioblastoma multiforme | 1-gen-2015 | Vidone, M.; Clima, R.; Santorsola, M.; Calabrese, C.; Girolimetti, G.; Kurelac, I.; Amato, L. B.; Iommarini, L.; Trevisan, E.; Leone, M.; Soffietti, R.; Morra, I.; Faccani, G.; Attimonelli, M.; Porcelli, A. M.; Gasparre, G. | |
| A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest | 1-gen-2016 | Santorsola, M.; Calabrese, C.; Girolimetti, G.; Diroma, M. A.; Gasparre, G.; Attimonelli, M. | |
| Breast Cancer Organoids Model Patient-Specific Response to Drug Treatment | 1-gen-2020 | Campaner, Elena; Zannini, Alessandro; Santorsola, Mariangela; Bonazza, Deborah; Bottin, Cristina; Cancila, Valeria; Tripodo, Claudio; Bortul, Marina; Zanconati, Fabrizio; Schoeftner, Stefan; Del Sal, Giannino | |
| Extraction and annotation of human mitochondrial genomes from 1000 Genomes Whole Exome Sequencing data | 1-gen-2014 | Diroma, Maria Angela; Calabrese, Claudia; Simone, Domenico; Santorsola, Mariangela; Calabrese, Francesco Maria; Gasparre, Giuseppe; Attimonelli, Marcella | |
| hgtseq: A Standard Pipeline to Study Horizontal Gene Transfer | 1-gen-2022 | Carpanzano, Simone; Santorsola, Mariangela; Nf-Core Community, Null; Lescai, Francesco | |
| HmtDB 2016: data update, a better performing query system and human mitochondrial DNA haplogroup predictor | 1-gen-2017 | Clima, Rosanna; Preste, Roberto; Calabrese, Claudia; Diroma, Maria Angela; Santorsola, Mariangela; Scioscia, Gaetano; Simone, Domenico; Shen, Lishuang; Gasparre, Giuseppe; Attimonelli, Marcella | |
| Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities | 1-gen-2015 | Falk, M. J.; Shen, L.; Gonzalez, M.; Leipzig, J.; Lott, M. T.; Stassen, A. P. M.; Diroma, M. A.; Navarro-Gomez, D.; Yeske, P.; Bai, R.; Boles, R. G.; Brilhante, V.; Ralph, D.; Dare, J. T.; Shelton, R.; Terry, S. F.; Zhang, Z.; Copeland, W. C.; van Oven, M.; Prokisch, H.; Wallace, D. C.; Attimonelli, M.; Krotoski, D.; Zuchner, S.; Gai, X.; Bale, S.; Bedoyan, J.; Behar, D.; Bonnen, P.; Brooks, L.; Calabrese, C.; Calvo, S.; Chinnery, P.; Christodoulou, J.; Church, D.; Clima, R.; Cohen, B. H.; Cotton, R. G.; de Coo, I. F. M.; Derbenevoa, O.; den Dunnen, J. T.; Dimmock, D.; Enns, G.; Gasparre, G.; Goldstein, A.; Gonzalez, I.; Gwinn, K.; Hahn, S.; Haas, R. H.; Hakonarson, H.; Hirano, M.; Kerr, D.; Li, D.; Lvova, M.; Macrae, F.; Maglott, D.; Mccormick, E.; Mitchell, G.; Mootha, V. K.; Okazaki, Y.; Pujol, A.; Parisi, M.; Perin, J. C.; Pierce, E. A.; Procaccio, V.; Rahman, S.; Reddi, H.; Rehm, H.; Riggs, E.; Rodenburg, R.; Rubinstein, Y.; Saneto, R.; Santorsola, M.; Scharfe, C.; Sheldon, C.; Shoubridge, E. A.; Simone, D.; Smeets, B.; Smeitink, J. A.; Stanley, C.; Suomalainen, A.; Tarnopolsky, M.; Thiffault, I.; Thorburn, D. R.; Hove, J. V.; Wolfe, L.; Wong, L. -J. | |
| MToolBox: A highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing | 1-gen-2014 | Calabrese, C.; Simone, D.; Diroma, M. A.; Santorsola, M.; Gutta, C.; Gasparre, G.; Picardi, E.; Pesole, G.; Attimonelli, M. | |
| Prediction of Metabolic Profiles from Transcriptomics Data in Human Cancer Cell Lines | 1-gen-2022 | Cavicchioli, M. V.; Santorsola, M.; Balboni, N.; Mercatelli, D.; Giorgi, F. M. | |
| TGS1 mediates 2,2,7-trimethyl guanosine capping of the human telomerase RNA to direct telomerase dependent telomere maintenance | 1-gen-2022 | Buemi, Valentina; Schillaci, Odessa; Santorsola, Mariangela; Bonazza, Deborah; Broccia, Pamela Veneziano; Zappone, Annie; Bottin, Cristina; Dell'Omo, Giulia; Kengne, Sylvie; Cacchione, Stefano; Raffa, Grazia Daniela; Piazza, Silvano; di Fagagna, Fabrizio d'Adda; Benetti, Roberta; Cortale, Maurizio; Zanconati, Fabrizio; Del Sal, Giannino; Schoeftner, Stefan | |
| The prolyl-isomerase PIN1 is essential for nuclear Lamin-B structure and function and protects heterochromatin under mechanical stress | 1-gen-2021 | Napoletano, F.; Ferrari Bravo, G.; Voto, I. A. P.; Santin, A.; Celora, L.; Campaner, E.; Dezi, C.; Bertossi, A.; Valentino, E.; Santorsola, M.; Rustighi, A.; Fajner, V.; Maspero, E.; Ansaloni, F.; Cancila, V.; Valenti, C. F.; Santo, M.; Artimagnella, O. B.; Finaurini, S.; Gioia, U.; Polo, S.; Sanges, R.; Tripodo, C.; Mallamaci, A.; Gustincich, S.; d'Adda di Fagagna, F.; Mantovani, F.; Specchia, V.; Del Sal, G. | |
| The promise of explainable deep learning for omics data analysis: Adding new discovery tools to AI | 1-gen-2023 | Santorsola, Mariangela; Lescai, Francesco |