Education

PhD, Genoa University, Italy, 1994

Current position

Associate professor, Biomedicine, Tor Vergata University of Rome, Italy

Publications (sicne 2015)

1. Cascella, R., Strafella, C., Longo, G., Manzo, L., Ragazzo, M., De Felici, C., Gambardella, S., Marsella, L. T., Novelli, G., Borgiani, P., Sangiuolo, F., Cusumano, A., Ricci, F. and Giardina, E. (2017). Assessing individual risk for AMD with genetic counseling, family history, and genetic testing. Eye (Lond).
2. Lo Castro, A., Murdocca, M., Pucci, S., Zaratti, A., Greggi, C., Sangiuolo, F., Tancredi, V., Frank, C. and D'Arcangelo, G. (2017). Early Hippocampal i-LTP and LOX-1 Overexpression Induced by Anoxia: A Potential Role in Neurodegeneration in NPC Mouse Model. Int J Mol Sci 18(7).
3. Lanzolla, G., Vancieri, G., Lanciotti, S., Sangiuolo, F., Menegatti, E., Federici, L., Moretti, C. and Brancati, F. (2017). The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female. Gynecol Endocrinol 33(12): 918-922.
4. Cassone, M., Baghernajad Salehi, L., Tedaldi, G., Tebaldi, M., Zampiga, V., Biancolella, M., Testa, B., Calistri, D.,  Mastrogiorgio, G., Lanciotti, S., D'Apice, M. R., Novelli, G. and Sangiuolo, F. (2017). Coexistence of Two Novel Mutations in CDKN2A and PMS1 Genes in a Single Patient Identifies a New and Severe Cancer Predisposition Syndrome. Oncomedicine 2: 88-92.
5. Talarico, R. V.,Novelli, G., Sangiuolo, F. and Spitalieri, P. (2017). Human Induced Pluripotent Stem Cells-Based Strategies: New Frontiers for Personalized Medicine. Toward the Future: the New Challenges of the Cell Therapy and Potential of Regenerative Medicine 6: 105-141.
6. Ferradini, V., Cassone, M., Nuovo, S., Bagni, I., D'Apice, M. R., Botta, A., Novelli, G. and Sangiuolo, F. (2017). Targeted Next Generation Sequencing in patients with Myotonia Congenita. Clin Chim Acta 470: 1-7.
   
7. Capuano, R., Spitalieri, P., Talarico, R. V., Domakoski, A. C., Catini, A., Paolesse, R., Martinelli, E., Novelli, G., Sangiuolo, F. and Di Natale, C. (2017). A preliminary analysis of volatile metabolites of human induced pluripotent stem cells along the in vitro differentiation. Sci Rep 7(1): 1621.
8. Botta, A., Rossi, G., Marcaurelio, M., Fontana, L., D'Apice, M. R., Brancati, F., Massa, R., D, G. M., Sangiuolo, F. and Novelli, G. (2017). Identification and characterization of 5' CCG interruptions in complex DMPK expanded alleles. Eur J Hum Genet 25(2): 257-261.
9. Murdocca, M., Ciafre, S. A., Spitalieri, P., Talarico, R. V., Sanchez, M., Novelli, G. and Sangiuolo, F. (2016). SMA Human iPSC-Derived Motor Neurons Show Perturbed Differentiation and Reduced miR-335-5p Expression. Int J Mol Sci 17(8).
10. Cascella, R., Strafella, C., Longo, G., Maccarone, M., Borgiani, P., Sangiuolo, F., Novelli, G. and Giardina, E. (2016). Pharmacogenomics of multifactorial diseases: a focus on psoriatic arthritis. Pharmacogenomics 17(8): 943-951.
11. Spitalieri, P., Talarico, V. R., Murdocca, M., Novelli, G. and Sangiuolo, F. (2016). Human induced pluripotent stem cells for monogenic disease modelling and therapy. World J Stem Cells 8(4): 118-135.
12. Mango, R., Luchetti, A., Sangiuolo, R., Ferradini, V., Briglia, N., Giardina, E., Ferre, F., Helmer Citterich, M., Romeo, F., Novelli, G. and Sangiuolo, F. (2016). Next Generation Sequencing and Linkage Analysis for the Molecular Diagnosis of a Novel Overlapping Syndrome Characterized by Hypertrophic Cardiomyopathy and Typical Electrical Instability of Brugada Syndrome. Circ J 80(4): 938-949.
13. Pantic, B., Borgia, D., Giunco, S., Malena, A., Kiyono, T., Salvatori, S., De Rossi, A., Giardina, E., Sangiuolo, F., Pegoraro, E., Vergani, L. and Botta, A. (2016). Reliable and versatile immortal muscle cell models from healthy and myotonic dystrophy type 1 primary human myoblasts. Exp Cell Res 342(1): 39-51.
14. Murdocca, M., Mango, R., Pucci, S., Biocca, S., Testa, B., Capuano, R., Paolesse, R., Sanchez, M., Orlandi, A., di Natale, C., Novelli, G. and Sangiuolo, F. (2016). The lectin-like oxidized LDL receptor-1: a new potential molecular target in colorectal cancer. Oncotarget 7(12): 14765-14780.
15. Cascella, R., Strafella, C., Gambardella, S., Longo, G., Borgiani, P., Sangiuolo, F., Novelli, G. and Giardina, E. (2016). Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations. Electrophoresis 37(5-6): 860-864.
16. Pierandrei, S., Luchetti, A., Sanchez, M., Novelli, G., Sangiuolo, F. and Lucarelli, M. (2016). The Gene Targeting Approach of Small Fragment Homologous Replacement (SFHR) Alters the Expression Patterns of DNA Repair and Cell Cycle Control Genes. Mol Ther Nucleic Acids 5: e304.
17. Longo, G., Russo, S., Novelli, G., Sangiuolo, F. and D'Apice, M. R. (2016). Mutation spectrum of the MTM1 gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis. Clin Genet 89(1): 93-98.
18. Gigante, L., Paganini, I., Frontali, M., Ciabattoni, S., Sangiuolo, F. C. and Papi, L. (2016). Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism. Fam Cancer 15(1): 123-126.
19. Cascella, R., Strafella, C., Germani, C., Manzo, L., Marsella, L. T., Borgiani, P., Sobhy, N., Abdelmaksood, R., Gerou, S., Ioannides, D., Sangiuolo, F., Novelli, G., Hashad, D., Vakirlis, E. and Giardina, E. (2015). FLG (filaggrin) null mutations and sunlight exposure: Evidence of a correlation. J Am Acad Dermatol 73(3): 528-529.
20. Luchetti, A., Ciafre, S. A., Murdocca, M., Malgieri, A., Masotti, A., Sanchez, M., Farace, M. G., Novelli, G. and Sangiuolo, F. (2015). A Perturbed MicroRNA Expression Pattern Characterizes Embryonic Neural Stem Cells Derived from a Severe Mouse Model of Spinal Muscular Atrophy (SMA). Int J Mol Sci 16(8): 18312-18327.
21. Garaci, F., Marsili, L., Riant, F., Marziali, S., Cecillon, M., Pasquarelli, R., Sangiuolo, F., Floris, R., Novelli, G., Tournier-Lasserve, E. and Brancati, F. (2015). Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene. Neuroradiol J 28(3): 289-293.
22. Cascella, R., Stocchi, L., Strafella, C., Mezzaroma, I., Mannazzu, M., Vullo, V., Montella, F., Parruti, G., Borgiani, P., Sangiuolo, F., Novelli, G., Pirazzoli, A., Zampatti, S. and Giardina, E. (2015). Comparative analysis between saliva and buccal swabs as source of DNA: lesson from HLA-B*57:01 testing. Pharmacogenomics 16(10): 1039-1046.
23. Ruggieri, A., Brancati, F., Zanotti, S., Maggi, L., Pasanisi, M. B., Saredi, S., Terracciano, C., Antozzi, C., MR, D. A., Sangiuolo, F., Novelli, G., Marshall, C. R., Scherer, S. W., Morandi, L., Federici, L., Massa, R., Mora, M. and Minassian, B. A. (2015). Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy. Acta Neuropathol Commun 3: 44.
24. Spitalieri, P., Talarico, R. V., Botta, A., Murdocca, M., D'Apice, M. R., Orlandi, A., Giardina, E., Santoro, M., Brancati, F., Novelli, G. and Sangiuolo, F. (2015). Generation of Human Induced Pluripotent Stem Cells from Extraembryonic Tissues of Fetuses Affected by Monogenic Diseases. Cell Reprogram 17(4): 275-287.
25. Nuovo, S., Passeri, M., Di Benedetto, E., Calanchini, M., Meldolesi, I., Di Giacomo, M. C., Petruzzi, D., Piemontese, M. R., Zelante, L., Sangiuolo, F., Novelli, G., Fabbri, A. and Brancati, F. (2016). Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1. J Endocrinol Invest 39(2): 227-233.
26. D'Apice, M. R., Novelli, A., di Masi, A., Biancolella, M., Antoccia, A., Gullotta, F., Licata, N., Minella, D., Testa, B., Nardone, A. M., Palmieri, G., Calabrese, E., Biancone, L., Tanzarella, C., Frontali, M., Sangiuolo, F., Novelli, G. and Pallone, F. (2015). Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome? BMC Med Genet 16: 20.
27. Morini, E., Sangiuolo, F., Caporossi, D., Novelli, G. and Amati, F. (2015). Application of Next Generation Sequencing for personalized medicine for sudden cardiac death. Front Genet 6: 55.