Sfoglia per Autore
Leukocite derived microvescicles as disease progression biomarkers in slow progressing amyotrophic lateral sclerosis.
2019-01-01 Sproviero, D.; La Salvia, S.; Colombo, F.; Zucca, S.; Pansarasa, O.; Diamanti, L.; Costa, A.; Lova, Luca; Giannini, M.; Gagliardi, S.; Lauranzano, E.; Matteoli, M.; Ceroni, M.; Malaspina, A.; Cereda, Cristina
A Synthetic Close-Loop Controller Circuit for the Regulation of an Extracellular Molecule by Engineered Bacteria
2019-01-01 Pasotti, L.; Bellato, M.; Politi, N.; Casanova, M.; Zucca, S.; Cusella De Angelis, M. G.; Magni, P.
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review
2019-01-01 Garau, Jessica; Cavallera, Vanessa; Valente, Marialuisa; Tonduti, Davide; Sproviero, Daisy; Zucca, Susanna; Battaglia, Domenica; Battini, Roberta; Bertini, Enrico; Cappanera, Silvia; Chiapparini, Luisa; Crasà, Camilla; Crichiutti, Giovanni; Dalla Giustina, Elvio; D'Arrigo, Stefano; De Giorgis, Valentina; De Simone, Micaela; Galli, Jessica; La Piana, Roberta; Messana, Tullio; Moroni, Isabella; Nardocci, Nardo; Panteghini, Celeste; Parazzini, Cecilia; Pichiecchio, Anna; Pini, Antonella; Ricci, Federica; Saletti, Veronica; Salvatici, Elisabetta; Santorelli, Filippo M; Sartori, Stefano; Tinelli, Francesca; Uggetti, Carla; Veneselli, Edvige; Zorzi, Giovanna; Garavaglia, Barbara; Fazzi, Elisa; Orcesi, Simona; Cereda, Cristina
Alzheimer's, Parkinson's Disease and Amyotrophic Lateral Sclerosis Gene Expression Patterns Divergence Reveals Different Grade of RNA Metabolism Involvement
2020-01-01 Garofalo, Maria; Pandini, Cecilia; Bordoni, Matteo; Pansarasa, Orietta; Rey, Federica; Costa, Alfredo; Minafra, Brigida; Diamanti, Luca; Zucca, Susanna; Carelli, Stephana; Cereda, Cristina; Gagliardi, Stella
DIVAs, a phenotype-driven machine-learning model to assess the pathogenicity
2021-01-01 De Paoli, F.; Limongelli, I.; Zucca, S.; Baccalini, F.; Serpieri, V.; D'Abrusco, F.; Valente, E. M.; Magni, P.
DIVAs: a phenotype-based machine-learning model to assess the pathogenicity of digenic variant combinations
2021-01-01 De Paoli, F.; Limongelli, I.; Zucca, S.; Baccalini, F.; Serpieri, V.; D'Abrusco, F.; Zarantonello, M.; Antonaci, Fabio; Carrabba, M.; Valente, E. M.; Magni, P.
COVID-19 patients and Dementia: Frontal cortex transcriptomic data
2021-01-01 Garofalo, Maria; Gagliardi, Stella; Zucca, Susanna; Pandini, Cecilia; Dragoni, Francesca; Sproviero, Daisy; Pansarasa, Orietta; Poloni, Tino Emanuele; Medici, Valentina; Davin, Annalisa; Visonà, Silvia Damiana; Moretti, Matteo; Guaita, Antonio; Ceroni, Mauro; Tronconi, Livio; Cereda, Cristina
ViR: a tool to solve intrasample variability in the prediction of viral integration sites using whole genome sequencing data
2021-01-01 Pischedda, E.; Crava, C.; Carlassara, M.; Zucca, S.; Gasmi, L.; Bonizzoni, M.
eVai's Suggested Diagnosis feature: a new AI-based method to increase diagnostic yield in Rare Disease Patients
2022-01-01 Nicora, G.; De Paoli, F.; Limongelli, I.; Rizzo, E.; Bellazzi, R.; Magni, P.; Zucca, Susanna
Differential Neuropathology, Genetics, and Transcriptomics in Two Kindred Cases with Alzheimer's Disease and Lewy Body Dementia
2022-01-01 Palmieri, Ilaria; Poloni, Tino Emanuele; Medici, Valentina; Zucca, Susanna; Davin, Annalisa; Pansarasa, Orietta; Ceroni, Mauro; Tronconi, Livio; Guaita, Antonio; Gagliardi, Stella; Cereda, Cristina
A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization
2022-01-01 Nicora, G.; Zucca, S.; Limongelli, I.; Bellazzi, R.; Magni, P.
Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene
2022-01-01 Taha, I.; De Paoli, F.; Foroni, S.; Zucca, S.; Limongelli, I.; Cipolli, M.; Danesino, C.; Ramenghi, U.; Minelli, A.
A machine learning approach for the detection of incidental findings in genetic testing
2023-01-01 Berardelli, S.; De Paoli, F.; Nicora, G.; Limongelli, I.; Rizzo, E.; Magni, P.; Zucca, S.
An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases
2024-01-01 Zucca, S; Nicora, G; De Paoli, F; Carta, M G; Bellazzi, R; Magni, P; Rizzo, E; Limongelli, I
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project
2024-01-01 Stenton, S. L.; O'Leary, M. C.; Lemire, G.; Vannoy, G. E.; Ditroia, S.; Ganesh, V. S.; Groopman, E.; O'Heir, E.; Mangilog, B.; Osei-Owusu, I.; Pais, L. S.; Serrano, J.; Singer-Berk, M.; Weisburd, B.; Wilson, M. W.; Austin-Tse, C.; Abdelhakim, M.; Althagafi, A.; Babbi, G.; Bellazzi, R.; Bovo, S.; Carta, M. G.; Casadio, R.; Coenen, P. -J.; De Paoli, F.; Floris, M.; Gajapathy, M.; Hoehndorf, R.; Jacobsen, J. O. B.; Joseph, T.; Kamandula, A.; Katsonis, P.; Kint, C.; Lichtarge, O.; Limongelli, I.; Lu, Y.; Magni, P.; Mamidi, T. K. K.; Martelli, P. L.; Mulargia, M.; Nicora, G.; Nykamp, K.; Pejaver, V.; Peng, Y.; Pham, T. H. C.; Podda, M. S.; Rao, A.; Rizzo, E.; Saipradeep, V. G.; Savojardo, C.; Schols, P.; Shen, Y.; Sivadasan, N.; Smedley, D.; Soru, D.; Srinivasan, R.; Sun, Y.; Sunderam, U.; Tan, W.; Tiwari, N.; Wang, X.; Wang, Y.; Williams, A.; Worthey, E. A.; Yin, R.; You, Y.; Zeiberg, D.; Zucca, S.; Bakolitsa, C.; Brenner, S. E.; Fullerton, S. M.; Radivojac, P.; Rehm, H. L.; O'Donnell-Luria, A.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Leukocite derived microvescicles as disease progression biomarkers in slow progressing amyotrophic lateral sclerosis. | 1-gen-2019 | Sproviero, D.; La Salvia, S.; Colombo, F.; Zucca, S.; Pansarasa, O.; Diamanti, L.; Costa, A.; Lova, Luca; Giannini, M.; Gagliardi, S.; Lauranzano, E.; Matteoli, M.; Ceroni, M.; Malaspina, A.; Cereda, Cristina | |
| A Synthetic Close-Loop Controller Circuit for the Regulation of an Extracellular Molecule by Engineered Bacteria | 1-gen-2019 | Pasotti, L.; Bellato, M.; Politi, N.; Casanova, M.; Zucca, S.; Cusella De Angelis, M. G.; Magni, P. | |
| Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review | 1-gen-2019 | Garau, Jessica; Cavallera, Vanessa; Valente, Marialuisa; Tonduti, Davide; Sproviero, Daisy; Zucca, Susanna; Battaglia, Domenica; Battini, Roberta; Bertini, Enrico; Cappanera, Silvia; Chiapparini, Luisa; Crasà, Camilla; Crichiutti, Giovanni; Dalla Giustina, Elvio; D'Arrigo, Stefano; De Giorgis, Valentina; De Simone, Micaela; Galli, Jessica; La Piana, Roberta; Messana, Tullio; Moroni, Isabella; Nardocci, Nardo; Panteghini, Celeste; Parazzini, Cecilia; Pichiecchio, Anna; Pini, Antonella; Ricci, Federica; Saletti, Veronica; Salvatici, Elisabetta; Santorelli, Filippo M; Sartori, Stefano; Tinelli, Francesca; Uggetti, Carla; Veneselli, Edvige; Zorzi, Giovanna; Garavaglia, Barbara; Fazzi, Elisa; Orcesi, Simona; Cereda, Cristina | |
| Alzheimer's, Parkinson's Disease and Amyotrophic Lateral Sclerosis Gene Expression Patterns Divergence Reveals Different Grade of RNA Metabolism Involvement | 1-gen-2020 | Garofalo, Maria; Pandini, Cecilia; Bordoni, Matteo; Pansarasa, Orietta; Rey, Federica; Costa, Alfredo; Minafra, Brigida; Diamanti, Luca; Zucca, Susanna; Carelli, Stephana; Cereda, Cristina; Gagliardi, Stella | |
| DIVAs, a phenotype-driven machine-learning model to assess the pathogenicity | 1-gen-2021 | De Paoli, F.; Limongelli, I.; Zucca, S.; Baccalini, F.; Serpieri, V.; D'Abrusco, F.; Valente, E. M.; Magni, P. | |
| DIVAs: a phenotype-based machine-learning model to assess the pathogenicity of digenic variant combinations | 1-gen-2021 | De Paoli, F.; Limongelli, I.; Zucca, S.; Baccalini, F.; Serpieri, V.; D'Abrusco, F.; Zarantonello, M.; Antonaci, Fabio; Carrabba, M.; Valente, E. M.; Magni, P. | |
| COVID-19 patients and Dementia: Frontal cortex transcriptomic data | 1-gen-2021 | Garofalo, Maria; Gagliardi, Stella; Zucca, Susanna; Pandini, Cecilia; Dragoni, Francesca; Sproviero, Daisy; Pansarasa, Orietta; Poloni, Tino Emanuele; Medici, Valentina; Davin, Annalisa; Visonà, Silvia Damiana; Moretti, Matteo; Guaita, Antonio; Ceroni, Mauro; Tronconi, Livio; Cereda, Cristina | |
| ViR: a tool to solve intrasample variability in the prediction of viral integration sites using whole genome sequencing data | 1-gen-2021 | Pischedda, E.; Crava, C.; Carlassara, M.; Zucca, S.; Gasmi, L.; Bonizzoni, M. | |
| eVai's Suggested Diagnosis feature: a new AI-based method to increase diagnostic yield in Rare Disease Patients | 1-gen-2022 | Nicora, G.; De Paoli, F.; Limongelli, I.; Rizzo, E.; Bellazzi, R.; Magni, P.; Zucca, Susanna | |
| Differential Neuropathology, Genetics, and Transcriptomics in Two Kindred Cases with Alzheimer's Disease and Lewy Body Dementia | 1-gen-2022 | Palmieri, Ilaria; Poloni, Tino Emanuele; Medici, Valentina; Zucca, Susanna; Davin, Annalisa; Pansarasa, Orietta; Ceroni, Mauro; Tronconi, Livio; Guaita, Antonio; Gagliardi, Stella; Cereda, Cristina | |
| A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization | 1-gen-2022 | Nicora, G.; Zucca, S.; Limongelli, I.; Bellazzi, R.; Magni, P. | |
| Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene | 1-gen-2022 | Taha, I.; De Paoli, F.; Foroni, S.; Zucca, S.; Limongelli, I.; Cipolli, M.; Danesino, C.; Ramenghi, U.; Minelli, A. | |
| A machine learning approach for the detection of incidental findings in genetic testing | 1-gen-2023 | Berardelli, S.; De Paoli, F.; Nicora, G.; Limongelli, I.; Rizzo, E.; Magni, P.; Zucca, S. | |
| An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases | 1-gen-2024 | Zucca, S; Nicora, G; De Paoli, F; Carta, M G; Bellazzi, R; Magni, P; Rizzo, E; Limongelli, I | |
| Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project | 1-gen-2024 | Stenton, S. L.; O'Leary, M. C.; Lemire, G.; Vannoy, G. E.; Ditroia, S.; Ganesh, V. S.; Groopman, E.; O'Heir, E.; Mangilog, B.; Osei-Owusu, I.; Pais, L. S.; Serrano, J.; Singer-Berk, M.; Weisburd, B.; Wilson, M. W.; Austin-Tse, C.; Abdelhakim, M.; Althagafi, A.; Babbi, G.; Bellazzi, R.; Bovo, S.; Carta, M. G.; Casadio, R.; Coenen, P. -J.; De Paoli, F.; Floris, M.; Gajapathy, M.; Hoehndorf, R.; Jacobsen, J. O. B.; Joseph, T.; Kamandula, A.; Katsonis, P.; Kint, C.; Lichtarge, O.; Limongelli, I.; Lu, Y.; Magni, P.; Mamidi, T. K. K.; Martelli, P. L.; Mulargia, M.; Nicora, G.; Nykamp, K.; Pejaver, V.; Peng, Y.; Pham, T. H. C.; Podda, M. S.; Rao, A.; Rizzo, E.; Saipradeep, V. G.; Savojardo, C.; Schols, P.; Shen, Y.; Sivadasan, N.; Smedley, D.; Soru, D.; Srinivasan, R.; Sun, Y.; Sunderam, U.; Tan, W.; Tiwari, N.; Wang, X.; Wang, Y.; Williams, A.; Worthey, E. A.; Yin, R.; You, Y.; Zeiberg, D.; Zucca, S.; Bakolitsa, C.; Brenner, S. E.; Fullerton, S. M.; Radivojac, P.; Rehm, H. L.; O'Donnell-Luria, A. |
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