Concolino, Paola
Concolino, Paola
Enhanced Detection of BRCA Copy Number Alterations Within a Commercial HRD Assay: Implications for Precision Oncology in Ovarian Cancer
2026 De Bonis, Maria; Iapicca, P.; De Paolis, Elisa; Brisighelli, Francesca; Evangelista, J.; Perrucci, A.; Ricciardi Tenore, C.; Maneri, G.; Concolino, Paola; Piermattei, A.; Mozzetta, I.; Pasciuto, Tina; Preziosi, A.; Giaco, L.; Duranti, S.; Nero, Camilla; Fagotti, Anna; Minucci, Angelo
Detection of Clinically Significant BRCA Large Genomic Rearrangements in FFPE Ovarian Cancer Samples: A Comparative NGS Study
2025 Perrucci, A.; De Bonis, Maria; Maneri, G.; Ricciardi Tenore, C.; Concolino, Paola; Corsi, M.; Conca, A.; Evangelista, J.; Piermattei, Angelo; Nero, Camilla; Giaco, L.; De Paolis, Elisa; Fagotti, Anna; Minucci, Angelo
GAPO syndrome: a comprehensive examination and review of 105 clinical cases
2025 Modafferi, Clarissa; D'Ambrosio, P; Andaloro, Silvia; Lauretti, Giulia; Antignani, Fulvia; Pompili, Maurizio; Giuliante, Felice; Biolato, Marco; Niccolini, Benedetta; Fargnoli, Arcangelo; Bogliardi, Francesco Maria; Concolino, Paola; Zampino, Giuseppe; Minucci, Angelo; Genuardi, Maurizio; Tabolacci, Elisabetta; Chiurazzi, Pietro
An integrated multitool analysis contributes elements to interpreting unclassified factor IX missense variants associated with hemophilia B
2024 Sacco, Monica; Testa, M. F.; Ferretti, Arianna Antonietta; Basso, Maria; Lancellotti, Stefano; Tardugno, Maira; Di Gennaro, Leonardo; Concolino, Paola; Minucci, Angelo; Spoliti, Claudia; Branchini, A.; De Cristofaro, Raimondo
Identification of a False-positive Multiplex Ligation-dependent Probe Amplification Result in BRCA1 Using a Copy Number Variation Algorithm Under Development for a Commercial Next-Generation Sequencing-based Homologous Recombination Deficiency Assay
2024 Concolino, Paola; De Paolis, Elisa; Rinelli, M.; Maneri, G.; Brisighelli, Francesca; Trozzi, Rita; Duranti, S.; Giaco, L.; Piane, M.; Preziosi, A.; Panfili, A.; Scambia, Giovanni; Nero, Camilla; De Bonis, Maria; Minucci, Angelo
Clinical Reasoning: A Young Man With Subacute Onset of Spastic Paraparesis
2023 Rossi, Salvatore; Concolino, Paola; Di Natale, Daniele; Pasquetti, Domizia; Di Lella, Giuseppe Maria; Chiurazzi, Pietro; Silvestri, Gabriella
Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian Family
2023 Concolino, Paola; De Paolis, Elisa; Moffa, Simona; Onori, Maria Elisabetta; Soldovieri, Laura; Ricciardi Tenore, Claudio; De Bonis, Maria; Rabacchi, Claudio; Santonocito, Concetta; Rinelli, Martina; Calandra, Sebastiano; Giaccari, Andrea; Urbani, Andrea; Minucci, Angelo
Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South–Central Italian Cohort
2023 De Paolis, Elisa; Tilocca, B.; Lombardi, C.; De Bonis, M.; Concolino, Paola; Onori, Maria Elisabetta; Ricciardi Tenore, C.; Perrucci, Alessia; Roncada, Paola; Capoluongo, Ettore Domenico; Urbani, Andrea; Minucci, Angelo; Santonocito, Concetta
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability
2023 Pasquetti, Domizia; Gazzellone, Annalisa; Rossi, S; Orteschi, D; L'Erario, Federica Francesca; Concolino, Paola; Minucci, Angelo; Dionisi-Vici, C; Genuardi, Maurizio; Silvestri, Gabriella; Chiurazzi, Pietro
A commentary on the discrepancy between blood and tumour BRCA testing: An open question
2022 De Paolis, Elisa; Marchetti, Claudia; Concolino, Paola; Scambia, Giovanni; Urbani, Andrea; Fagotti, Anna; Minucci, Angelo
A Novel GCK Large Genomic Rearrangement in a Patient with MODY-2 Detected by Clinical Exome Sequencing
2022 Concolino, Paola; Tartaglione, Linda; De Paolis, Elisa; Carrozza, Cinzia; Urbani, Andrea; Minucci, Angelo; Pitocco, Dario; Santonocito, Concetta
BRCA Mutation Status in Triple-Negative Breast Cancer Patients Treated with Neoadjuvant Chemotherapy: A Pivotal Role for Treatment Decision-Making
2022 Pavese, Francesco; Capoluongo, Ettore Domenico; Muratore, Margherita; Minucci, Angelo; Santonocito, Concetta; Fuso, Paola; Concolino, Paola; Di Stasio, Enrico; Carbognin, Luisa; Tiberi, Giordana; Garganese, Giorgia; Corrado, Giacomo; Di Leone, Alba; Generali, Daniele; Fragomeni, Simona Maria; D'Angelo, Tatiana; Franceschini, Gianluca; Masetti, Riccardo; Fabi, Alessandra; Mulè, Antonino; Santoro, Angela; Belli, Paolo; Tortora, Giampaolo; Scambia, Giovanni; Paris, Ida
Droplet digital PCR for large genomic rearrangements detection: A promising strategy in tissue BRCA1 testing
2021 De Paolis, E.; De Bonis, M.; Concolino, Paola; Piermattei, Angelo; Fagotti, Anna; Urbani, Andrea; Scambia, Giovanni; Minucci, Angelo; Capoluongo, Ettore Domenico
Genes and Pseudogenes: Complexity of the RCCX Locus and Disease
2021 Carrozza, Cinzia; Foca, L.; De Paolis, Elisa; Concolino, Paola
Molecular Analysis of 21-Hydroxylase Deficiency Reveals Two Novel Severe Genotypes in Affected Newborns
2021 Concolino, P.; Paragliola, R. M.
Spectrum of DICER1 Germline Pathogenic Variants in Ovarian Sertoli-Leydig Cell Tumor
2021 De Paolis, Elisa; Paragliola, Rosa Maria; Concolino, Paola
Tumor BRCA testing in ovarian cancer and EQA scheme: our experience of a critical evaluation
2021 De Paolis, Elisa; Concolino, Paola; Onori, Maria Elisabetta; Santonocito, Concetta; Marchetti, Claudia; Fagotti, Anna; Scambia, Giovanni; Urbani, Andrea; Minucci, Angelo
A novel MEN1 pathogenic variant in an Italian patient with multiple endocrine neoplasia type 1
2020 Corsello, Andrea; Bruno, Carmine; Rizza, Roberta; Concolino, Paola; Papi, Giampaolo; Pontecorvi, Alfredo; Rindi, Guido; Paragliola, Rosa Maria
A Novel Pathogenic Variant in the N-Terminal Domain of the Glucocorticoid Receptor, Causing Glucocorticoid Resistance
2020 Paragliola, Rosa Maria; Costella, Alessandra; Corsello, Andrea; Urbani, Andrea; Concolino, Paola
BRCA testing delay during the COVID-19 pandemic: How to act?
2020 Minucci, Angelo; Scambia, Giovanni; De Bonis, M.; De Paolis, E.; Santonocito, Concetta; Fagotti, Anna; Capoluongo, Ettore Domenico; Concolino, Paola; Urbani, Andrea
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-2026 | Enhanced Detection of BRCA Copy Number Alterations Within a Commercial HRD Assay: Implications for Precision Oncology in Ovarian Cancer | De Bonis, Maria; Iapicca, P.; De Paolis, Elisa; Brisighelli, Francesca; Evangelista, J.; Perrucci, A.; Ricciardi Tenore, C.; Maneri, G.; Concolino, Paola; Piermattei, A.; Mozzetta, I.; Pasciuto, Tina; Preziosi, A.; Giaco, L.; Duranti, S.; Nero, Camilla; Fagotti, Anna; Minucci, Angelo | |
| 1-gen-2025 | Detection of Clinically Significant BRCA Large Genomic Rearrangements in FFPE Ovarian Cancer Samples: A Comparative NGS Study | Perrucci, A.; De Bonis, Maria; Maneri, G.; Ricciardi Tenore, C.; Concolino, Paola; Corsi, M.; Conca, A.; Evangelista, J.; Piermattei, Angelo; Nero, Camilla; Giaco, L.; De Paolis, Elisa; Fagotti, Anna; Minucci, Angelo | |
| 1-gen-2025 | GAPO syndrome: a comprehensive examination and review of 105 clinical cases | Modafferi, Clarissa; D'Ambrosio, P; Andaloro, Silvia; Lauretti, Giulia; Antignani, Fulvia; Pompili, Maurizio; Giuliante, Felice; Biolato, Marco; Niccolini, Benedetta; Fargnoli, Arcangelo; Bogliardi, Francesco Maria; Concolino, Paola; Zampino, Giuseppe; Minucci, Angelo; Genuardi, Maurizio; Tabolacci, Elisabetta; Chiurazzi, Pietro | |
| 1-gen-2024 | An integrated multitool analysis contributes elements to interpreting unclassified factor IX missense variants associated with hemophilia B | Sacco, Monica; Testa, M. F.; Ferretti, Arianna Antonietta; Basso, Maria; Lancellotti, Stefano; Tardugno, Maira; Di Gennaro, Leonardo; Concolino, Paola; Minucci, Angelo; Spoliti, Claudia; Branchini, A.; De Cristofaro, Raimondo | |
| 1-gen-2024 | Identification of a False-positive Multiplex Ligation-dependent Probe Amplification Result in BRCA1 Using a Copy Number Variation Algorithm Under Development for a Commercial Next-Generation Sequencing-based Homologous Recombination Deficiency Assay | Concolino, Paola; De Paolis, Elisa; Rinelli, M.; Maneri, G.; Brisighelli, Francesca; Trozzi, Rita; Duranti, S.; Giaco, L.; Piane, M.; Preziosi, A.; Panfili, A.; Scambia, Giovanni; Nero, Camilla; De Bonis, Maria; Minucci, Angelo | |
| 1-gen-2023 | Clinical Reasoning: A Young Man With Subacute Onset of Spastic Paraparesis | Rossi, Salvatore; Concolino, Paola; Di Natale, Daniele; Pasquetti, Domizia; Di Lella, Giuseppe Maria; Chiurazzi, Pietro; Silvestri, Gabriella | |
| 1-gen-2023 | Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian Family | Concolino, Paola; De Paolis, Elisa; Moffa, Simona; Onori, Maria Elisabetta; Soldovieri, Laura; Ricciardi Tenore, Claudio; De Bonis, Maria; Rabacchi, Claudio; Santonocito, Concetta; Rinelli, Martina; Calandra, Sebastiano; Giaccari, Andrea; Urbani, Andrea; Minucci, Angelo | |
| 1-gen-2023 | Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South–Central Italian Cohort | De Paolis, Elisa; Tilocca, B.; Lombardi, C.; De Bonis, M.; Concolino, Paola; Onori, Maria Elisabetta; Ricciardi Tenore, C.; Perrucci, Alessia; Roncada, Paola; Capoluongo, Ettore Domenico; Urbani, Andrea; Minucci, Angelo; Santonocito, Concetta | |
| 1-gen-2023 | Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability | Pasquetti, Domizia; Gazzellone, Annalisa; Rossi, S; Orteschi, D; L'Erario, Federica Francesca; Concolino, Paola; Minucci, Angelo; Dionisi-Vici, C; Genuardi, Maurizio; Silvestri, Gabriella; Chiurazzi, Pietro | |
| 1-gen-2022 | A commentary on the discrepancy between blood and tumour BRCA testing: An open question | De Paolis, Elisa; Marchetti, Claudia; Concolino, Paola; Scambia, Giovanni; Urbani, Andrea; Fagotti, Anna; Minucci, Angelo | |
| 1-gen-2022 | A Novel GCK Large Genomic Rearrangement in a Patient with MODY-2 Detected by Clinical Exome Sequencing | Concolino, Paola; Tartaglione, Linda; De Paolis, Elisa; Carrozza, Cinzia; Urbani, Andrea; Minucci, Angelo; Pitocco, Dario; Santonocito, Concetta | |
| 1-gen-2022 | BRCA Mutation Status in Triple-Negative Breast Cancer Patients Treated with Neoadjuvant Chemotherapy: A Pivotal Role for Treatment Decision-Making | Pavese, Francesco; Capoluongo, Ettore Domenico; Muratore, Margherita; Minucci, Angelo; Santonocito, Concetta; Fuso, Paola; Concolino, Paola; Di Stasio, Enrico; Carbognin, Luisa; Tiberi, Giordana; Garganese, Giorgia; Corrado, Giacomo; Di Leone, Alba; Generali, Daniele; Fragomeni, Simona Maria; D'Angelo, Tatiana; Franceschini, Gianluca; Masetti, Riccardo; Fabi, Alessandra; Mulè, Antonino; Santoro, Angela; Belli, Paolo; Tortora, Giampaolo; Scambia, Giovanni; Paris, Ida | |
| 1-gen-2021 | Droplet digital PCR for large genomic rearrangements detection: A promising strategy in tissue BRCA1 testing | De Paolis, E.; De Bonis, M.; Concolino, Paola; Piermattei, Angelo; Fagotti, Anna; Urbani, Andrea; Scambia, Giovanni; Minucci, Angelo; Capoluongo, Ettore Domenico | |
| 1-gen-2021 | Genes and Pseudogenes: Complexity of the RCCX Locus and Disease | Carrozza, Cinzia; Foca, L.; De Paolis, Elisa; Concolino, Paola | |
| 1-gen-2021 | Molecular Analysis of 21-Hydroxylase Deficiency Reveals Two Novel Severe Genotypes in Affected Newborns | Concolino, P.; Paragliola, R. M. | |
| 1-gen-2021 | Spectrum of DICER1 Germline Pathogenic Variants in Ovarian Sertoli-Leydig Cell Tumor | De Paolis, Elisa; Paragliola, Rosa Maria; Concolino, Paola | |
| 1-gen-2021 | Tumor BRCA testing in ovarian cancer and EQA scheme: our experience of a critical evaluation | De Paolis, Elisa; Concolino, Paola; Onori, Maria Elisabetta; Santonocito, Concetta; Marchetti, Claudia; Fagotti, Anna; Scambia, Giovanni; Urbani, Andrea; Minucci, Angelo | |
| 1-gen-2020 | A novel MEN1 pathogenic variant in an Italian patient with multiple endocrine neoplasia type 1 | Corsello, Andrea; Bruno, Carmine; Rizza, Roberta; Concolino, Paola; Papi, Giampaolo; Pontecorvi, Alfredo; Rindi, Guido; Paragliola, Rosa Maria | |
| 1-gen-2020 | A Novel Pathogenic Variant in the N-Terminal Domain of the Glucocorticoid Receptor, Causing Glucocorticoid Resistance | Paragliola, Rosa Maria; Costella, Alessandra; Corsello, Andrea; Urbani, Andrea; Concolino, Paola | |
| 1-gen-2020 | BRCA testing delay during the COVID-19 pandemic: How to act? | Minucci, Angelo; Scambia, Giovanni; De Bonis, M.; De Paolis, E.; Santonocito, Concetta; Fagotti, Anna; Capoluongo, Ettore Domenico; Concolino, Paola; Urbani, Andrea |