| CYP24A1 and SLC34A1 genetic defects associated with idiopathic infantile hypercalcemia: from genotype to phenotype E De Paolis, GL Scaglione, M De Bonis, A Minucci, E Capoluongo Clinical Chemistry and Laboratory Medicine (CCLM) 57 (11), 1650-1667, 2019 | 48 | 2019 |
| Hereditary Hypercalcemia Caused by a Homozygous Pathogenic Variant in the CYP24A1 Gene: A Case Report and Review of the Literature D Cappellani, A Brancatella, M Kaufmann, A Minucci, E Vignali, D Canale, ... Case reports in endocrinology 2019 (1), 4982621, 2019 | 35 | 2019 |
| Genes and pseudogenes: complexity of the RCCX locus and disease C Carrozza, L Foca, E De Paolis, P Concolino Frontiers in Endocrinology 12, 709758, 2021 | 33 | 2021 |
| A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass PM Ferraro, A Minucci, A Primiano, E De Paolis, J Gervasoni, S Persichilli, ... Urolithiasis 45, 291-294, 2017 | 31 | 2017 |
| Evaluation of cutaneous, oral and intestinal microbiota in patients affected by pemphigus and bullous pemphigoid: A pilot study GL Scaglione, L Fania, E De Paolis, M De Bonis, C Mazzanti, G Di Zenzo, ... Experimental and Molecular Pathology 112, 104331, 2020 | 27 | 2020 |
| Competitive PCR-high resolution melting analysis (C-PCR-HRMA) for large genomic rearrangements (LGRs) detection: a new approach to assess quantitative status of BRCA1 gene in a … A Minucci, E De Paolis, P Concolino, M De Bonis, R Rizza, G Canu, ... Clinica Chimica Acta 470, 83-92, 2017 | 24 | 2017 |
| Spectrum of DICER1 Germline Pathogenic Variants in Ovarian Sertoli–Leydig Cell Tumor E De Paolis, RM Paragliola, P Concolino Journal of Clinical Medicine 10 (9), 1845, 2021 | 22 | 2021 |
| Droplet digital PCR for large genomic rearrangements detection: A promising strategy in tissue BRCA1 testing E De Paolis, M De Bonis, P Concolino, A Piermattei, A Fagotti, A Urbani, ... Clinica Chimica Acta 513, 17-24, 2021 | 22 | 2021 |
| A Whole Germline BRCA2 Gene Deletion: How to Learn from CNV In Silico Analysis GL Scaglione, P Concolino, M De Bonis, E De Paolis, A Minucci, ... International Journal of Molecular Sciences 19 (4), 961, 2018 | 22 | 2018 |
| Characterization of a new BRCA1 rearrangement in an Italian woman with hereditary breast and ovarian cancer syndrome P Concolino, R Rizza, K Hackmann, I Paris, A Minucci, E De Paolis, ... Breast Cancer Research and Treatment 164, 497-503, 2017 | 19 | 2017 |
| A rapid screening of a recurrent CYP24A1 pathogenic variant opens the way to molecular testing for Idiopathic Infantile Hypercalcemia (IIH) E De Paolis, A Minucci, M De Bonis, GL Scaglione, J Gervasoni, ... Clinica Chimica Acta 482, 8-13, 2018 | 13 | 2018 |
| Lung cancer multi-omics digital human avatars for integrating precision medicine into clinical practice: the LANTERN study F Lococo, L Boldrini, CD Diepriye, J Evangelista, C Nero, S Flamini, ... BMC cancer 23 (1), 540, 2023 | 10 | 2023 |
| BRCA testing delay during the COVID-19 pandemic: How to act? A Minucci, G Scambia, M De Bonis, E De Paolis, C Santonocito, A Fagotti, ... Molecular Biology Reports 48, 983-987, 2021 | 10 | 2021 |
| A computational framework for comprehensive genomic profiling in solid cancers: the analytical performance of a high-throughput assay for small and copy number variants L Giacò, F Palluzzi, D Guido, C Nero, F Giacomini, S Duranti, E Bria, ... Cancers 14 (24), 6152, 2022 | 8 | 2022 |
| Role of homologous recombination repair (HRR) genes in uterine leiomyosarcomas: a retrospective analysis F Ciccarone, M Bruno, E De Paolis, A Piermattei, M De Bonis, D Lorusso, ... Cancers 14 (8), 1934, 2022 | 7 | 2022 |
| Case Report: Detection of a Novel Germline PALB2 Deletion in a Young Woman With Hereditary Breast Cancer: When the Patient's Phenotype History Doesn't Lie C De Angelis, C Nardelli, P Concolino, M Pagliuca, M Setaro, E De Paolis, ... Frontiers in Oncology 11, 602523, 2021 | 7 | 2021 |
| Identification of two novel LDLR variants by Next Generation Sequencing S Moffa, G Mazzuccato, M De Bonis, E De Paolis, ME Onori, A Pontecorvi, ... Annali dell'Istituto Superiore di Sanità 56 (1), 122-127, 2020 | 7 | 2020 |
| High Resolution Melting Analysis is Very Useful to Identify BRCA1 c. 4964_4982del19 (rs80359876) Founder Calabrian Pathogenic Variant on Peripheral Blood and Buccal Swab DNA. A Minucci, M De Bonis, E De Paolis, L Gentile, C Santonocito, ... Molecular diagnosis & therapy 21 (2), 217-223, 2017 | 7 | 2017 |
| Capillary electrophoresis as alternative method to detect tumor genetic mutations: the model built on the founder BRCA1 c.4964_4982del19 variant M De Bonis, A Minucci, GL Scaglione, E De Paolis, G Zannoni, ... Familial Cancer 18, 29-35, 2019 | 6 | 2019 |
| Human cardiac progenitor cells with regenerative potential can be isolated and characterized from 3D-electro-anatomic guided endomyocardial biopsies D D'Amario, AM Leone, ML Narducci, C Smaldone, D Lecis, F Inzani, ... International Journal of Cardiology 241, 330-343, 2017 | 6 | 2017 |
