2018

Next-generation sequencing identified a novel PLP1 deletion in a proband with connatal Pelizaeus-Merzbacher disease. Giovanni Savarese, Francesca Felicia Operto, Raffaella Ruggiero, Alfonso Ciriello, Luigia De Falco, Roberta Mazza, Fausta Piscopo, Alberto Verrotti, Giangennaro Coppola, Alessandro Frolli. Current Pediatric Research (2018) Volume 22, Issue 4

2019 

Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing. L.De Falco, G.Savarese, T.Suero, S.Amabile, R.Ruggiero, P.Savarese, A.Fico. Clin Case Rep.2019 Oct; 7(10): 1977–1981. doi: 10.1002/ccr3.2389

2020 

Genetic trajectory and immune microenvironment of lung-specific oligometastatic colorectal cancer Ottaiano, Circelli et al. Cell Death Dis. 2020 Apr; 11(4): 275.doi:10.1038/s41419-020-2480-6.

Evolution of Mutational Landscape and Tumor Immune-Microenvironment in Liver Oligo-Metastatic Colorectal Cancer Ottaiano, Circelli et al. Cancers 2020, 12(10), 3073; https://doi.org/10.3390/cancers12103073

Combined PTPN11 and MYBPC3 Gene Mutations in an Adult Patient with Noonan Syndrome and Hypertrophic Cardiomyopathy. Caiazza, Evangelista, et al.  Genes 11.8 (2020): 947.

2021 

KRAS mutational regression is associated with oligo-metastatic status and good prognosis in metastatic colorectal cancer. Ottaiano, Circelli et al. (2021) Frontiers in Oncology, doi: 10.3389/fonc.2021.632962.

Performance of Cell-Free DNA Sequencing-Based Non-invasive Prenatal Testing: Our Experience on 36456 both Singleton and Multiple Pregnancies. La Verde, M., De Falco, L., Torella, A., Savarese, G., Savarese, P., Ruggiero, R., … & Fico, A. (2021) BMC Medical Genomics 14, Article number: 93 (2021).

Genetic regressive trajectories in colorectal cancer: A new hallmark of oligo-metastatic disease? Alessandro Ottaiano, Mariachiara Santorsola, Michele Caraglia, Luisa Circelli, Valerio Gigantino, Gerardo Botti, Guglielmo Nasti  Translational Oncology,Volume 14, Issue 8, 2021

Prospective Evaluation of Radiotherapy-Induced Immunologic and Genetic Effects in Colorectal Cancer Oligo-Metastatic Patients with Lung-Limited Disease: The PRELUDE-1 Study.  Ottaiano A, Petito A, Santorsola M, Gigantino V, Capuozzo M, Fontanella D, Di Franco R, Borzillo V, Buonopane S, Ravo V, Scipilliti E, Totaro G, Serra M, Ametrano G, Penta R, Tatangelo F, Scognamiglio G, Di Mauro A, Di Bonito M, Napolitano M, Scala S, Rea G, Santagata S, Lombardi A, Grimaldi A, Caputo C, Crispo A, Celentano E, De Feo G, Circelli L, Savarese G, Ruggiero R, Perri F, Granata V, Botti G, Caraglia M, Nasti G, Muto P.  Cancers. 2021; 13(16):4236. https://doi.org/10.3390/cancers13164236

MED12 Mutation in Two Families with X-Linked Ohdo Syndrome. Rocchetti, L.; Evangelista, E.; De Falco, L.; Savarese, G.; Savarese, P.; Ruggiero, R.; D’Amore, L.; Sensi, A.; Fico, A.  Genes 2021, 12, 1328. https://doi.org/10.3390/genes12091328

Vitamin D deficiency and tumor aggressiveness in gastroenteropancreatic neuroendocrine tumors. Barbara Altieri, Luigi Barrea, Roberta Modica, Filomena Bottiglieri, Federica de Cicco, Giovanna Muscogiuri, Luisa Circelli,Giovanni Savarese, Carolina Di Somma, Silvia Savastano, Annamaria Colao & Antongiulio Faggiano Endocrine (2021).   https://doi.org/10.1007/s12020-021-02869-w

First Genomic Evidence of Dual African Swine Fever Virus Infection: Case Report from Recent and Historical Outbreaks in Sardinia Mariangela Stefania Stefania Fiori,Daria Sanna, Fabio Scarpa, Matteo Floris, Antonello Di Di Nardo, Luca Ferretti, Federica Loi, Stefano Cappai, Anna Maria Maria Sechi, Pier Paolo Paolo Angioi, Susanna Zinellu, Roberto Sirica, Eloisa Evangelista, Marco Casu, Giulia Franzoni, Annalisa Oggiano e Silvia Dei Dei Giudici  Viruses 2021, 13(10), 1994; https://doi.org/10.3390/v13101994

A Deeper Insight into Evolutionary Patterns and Phylogenetic History of ASFV Epidemics in Sardinia (Italy) through Extensive Genomic Sequencing. Mariangela Stefania Fiori, Luca Ferretti, Matteo Floris, Federica Loi, Antonello Di Nardo, Anna Maria Sechi, Anna Ladu, Graziella Puggioni, Daria Sanna, Fabio Scarpa, Maria Luisa Sanna, Maria Paola Madrau, Claudia Torresi, Roberto Sirica, Eloisa Evangelista, Annalisa Oggiano and Silvia Dei Giudici Viruses 2021, 13(11), 2145; https://doi.org/10.3390/v13112145

Detection of 46, XY Disorder of Sex Development (DSD) Based on Plasma Cell-Free DNA and Targeted Next-Generation Sequencing. De Falco L, Piscopo C, D’Angelo R, Evangelista E, Suero T, Sirica R, Ruggiero R, Savarese G, Di Carlo A, Furino G, Scarpato C, Fico A.  Genes. 2021; 12(12):1890. https://doi.org/10.3390/genes12121890

2022

Clinical and Molecular Characteristics of Rare Malignant Tumors of Colon and Rectum.Ottaiano, A.; Santorsola, M.; Perri, F.; Pace, U.; Marra, B.; Correra, M.; Sabbatino, F.; Cascella, M.; Petrillo, N.; Ianniello, M.; Casillo, M.; Misso, G.; Delrio, P.; Caraglia, M.; Nasti, G. Biology 2022, 11, 267. https://doi.org/10.3390/biology11020267

PD-L1 Overexpression in the Lungs of Subjects Who Died from COVID-19: Are We on the Way to Understanding the Immune System Exhaustion Induced by SARS-CoV-2? Andrea Ronchi, Federica Zito Marino, Emma Carraturo, Elvira La Mantia, Carlo Pietro Campobasso, Francesco De Micco, Pasquale Mascolo, Maurizio Municinò, Emilia Mucininò, Francesco Vestini, Omero Pinto, Marta Moccia, Noè De Stefano, Oscar Nappi, Carmen Sementa, Giovanni Zotti, Lamberto Pianese, Carmela Giordano, Antonio Fico,Renato Franco Critical Reviews TM in Eukaryotic Gene Expression, 32(3):9 – 20 (2022)

Microsatellite Status Detection in Gastrointestinal Cancers: PCR/NGS Is Mandatory in Negative/Patchy MMR Immunohistochemistry.Zito Marino, F.; Amato, M.; Ronchi, A.; Panarese, I.; Ferraraccio, F.; De Vita, F.; Tirino, G.; Martinelli, E.; Troiani, T.; Facchini, G.; Pirozzi, F.; Perrotta, M.; Incoronato, P.; Addeo, R.; Selvaggi, F.; Lucido, F.S.; Caraglia, M.; Savarese, G.; Sirica, R.; Casillo, M.; Lieto, E.; Auricchio, A.; Cardella, F.; Docimo, L.; Galizia, G.; Franco, R. Cancers 2022, 14, 2204. https://doi.org/10.3390/cancers14092204

Thermo-Responsive Gel Containing Hydroxytyrosol-Chitosan Nanoparticles (Hyt@tgel) Counteracts the Increase of Osteoarthritis Biomarkers in Human Chondrocytes. Valentino, A.; Conte, R.; De Luca, I.; Di Cristo, F.; Peluso, G.; Bosetti, M.; Calarco, A. Antioxidants 2022, 11, 1210. https://doi.org/10.3390/antiox11061210

Non-Invasive Prenatal Screening: The First Report of Pentasomy X Detected by Plasma Cell-Free DNA and Karyotype Analysis. De Falco, L.; Suero, T.; Savarese, G.; Savarese, P.; Ruggiero, R.; Di Carlo, A.; Bruno, M.; Petrillo, N.; Ianniello, M.; Scarpato, C.; Sarli, C.; Fico, A. Diagnostics2022, 12, 1591. https://doi.org/10.3390/diagnostics12071591

 A Deeper Insight into Evolutionary Patterns and Phylogenetic History of ORF Virus through the Whole Genome Sequencing of the First Italian Strains. Coradduzza, E.; Sanna, D.; Scarpa, F.; Azzena, I.; Fiori, M.S.; Scivoli, R.; Rocchigiani, A.M.; Bechere, R.; Dettori, M.A.; Pintus, D.; Evangelista, E.; Casu, M.; Ligios, C.; Puggioni, G. Viruses 2022, 14, 1473. https://doi.org/10.3390/v14071473

Characterization of KRAS Mutational Regression in Oligometastatic Patients Ottaiano Alessandro, de Vera d’Aragona Roberta Penta, Trotta Anna Maria, Santorsola Mariachiara, Napolitano Maria, Scognamiglio Giosuè, Tatangelo Fabiana, Grieco Paolo, Zappavigna Silvia, Granata Vincenza, Perri Francesco, Luce Amalia, Savarese Giovanni, Ianniello Monica, Casillo Marika, Petrillo Nadia, Belli Andrea, Izzo Francesco, Nasti Guglielmo, Caraglia Michele, Scala Stefania; Frontiers in Immunology, vol. 13, 2022 10.3389/fimmu.2022.898561

Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling Feresin Agnese, Stampalija Tamara, Cappellani Stefania, Bussani Rossana, Faletra Flavio, Murru Flora, Ulivi Sheila, Suergiu Sarah, Savarese Pasquale, Pedicini Antonio, Policicchio Margherita, Ruggiero Raffaella, Bosio Barbara, Savarese Giovanni, Ardisia Carmela; Frontiers in Immunology, vol. 13, 2022 10.3389/fgene.2022.982508

Preliminary Experience of Liquid Biopsy in Lung Cancer Compared to Conventional Assessment: Light and Shadows Montella M, Ciani G, Granata V, Fusco R, Grassi F, Ronchi A, Cozzolino I, Franco R, Zito Marino F, Urraro F, Monti R, Sirica R, Savarese G, Chianese U, Nebbioso A, Altucci L, Vietri MT, Nardone V, Reginelli A, Grassi R. J. Pers. Med. 2022, 12, 1896. https://doi.org/10.3390/jpm12111896

Genetic landscape of colorectal cancer patients manifesting tumor shrinkage during SARS-Cov-2 infection. Ottaiano, A., Santorsola, M., Circelli, L., Cascella, M., Petrillo, N., Perri, F., Casillo, M., Granata, V., Ianniello, M., Izzo, F., Picone, C., Correra, M., Petrillo, A., Sirica, R., Misso, G., Delrio, P., Nasti, G., Savarese, G., & Caraglia, M. (2022). Therapeutic advances in medical oncology, 14, 17588359221138388. https://doi.org/10.1177/17588359221138388

Multisite assessment of the impact of cell-free DNA-based screening for rare autosomal aneuploidies on pregnancy management and outcomes. Mossfield T, Soster E, Menezes M, Agenbag G, Dubois M, Gekas J, Hardy T, Jurkowska M, Kleinfinger P, Loggenberg K, Marchili P, Sirica R, on behalf of the Global Expanded NIPT Consortium  Frontiers in Genetics, 14, 2022 https://www.frontiersin.org/articles/10.3389/fgene.2022.975987

2023

Origin, Genetic Variation and Molecular Epidemiology of SARS-CoV-2 Strains Circulating in Sardinia (Italy) during the First and Second COVID-19 Epidemic Waves Rocchigiani, A.M.; Ferretti, L.; Ledda, A.; Di Nardo, A.; Floris, M.; Bonelli, P.; Loi, F.; Idda, M.L.; Angioi, P.P.; Zinellu, S.; Fiori, M.S.; Bechere, R.; Capitta, P.; Coccollone, A.; Coradduzza, E.; Dettori, M.A.; Fattaccio, M.C.; Gallisai, E.; Maestrale, C.; Manunta, D.; Pedditzi, A.; Piredda, I.; Palmas, B.; Salza, S.; Sechi, A.M.; Tanda, B.; Madrau, M.P.; Sanna, M.L.; Cherchi, S.; Ponti, N.; Masala, G.; Sirica, R.; Evangelista, E.; Oggiano, A.; Puggioni, G.; Ligios, C.; Dei Giudici, S. Viruses 2023, 15, 277. https://doi.org/10.3390/v15020277

Hypertension, type 2 diabetes, obesity, and p53 mutations negatively correlate with metastatic colorectal cancer patients’ survival Ottaiano, A., Santorsola, M., Circelli, L., Perri, F., Cascella, M., Sabbatino, F., Capuozzo, M., Granata, V., Zappavigna, S., Lombardi, A., Scrima, M., Petrillo, N., Ianniello, M., Casillo, M., Gualillo, O., Nasti, G., Caraglia, M., & Savarese, G. (2023).  Frontiers in medicine, 10, 1091634. https://doi.org/10.3389/fmed.2023.1091634

A Case Report of a Feto-Placental Mosaicism Involving a Segmental Aneuploidy: A Challenge for Genome Wide Screening by Non-Invasive Prenatal Testing of Cell-Free DNA in Maternal Plasma. De Falco, L.; Vitiello, G.; Savarese, G.; Suero, T.; Ruggiero, R.; Savarese, P.; Ianniello, M.; Petrillo, N.; Bruno, M.; Legnante, A.; Passaretti, F.F.; Ardisia, C.; Di Spiezio Sardo, A.; Fico, A. Genes 2023, 14, 668. https://doi.org/10.3390/genes14030668

Oligo-Metastatic Cancers: Putative Biomarkers, Emerging Challenges and New Perspectives. Ottaiano, A.; Santorsola, M.; Circelli, L.; Trotta, A.M.; Izzo, F.; Perri, F.; Cascella, M.; Sabbatino, F.; Granata, V.; Correra, M.; Tarotto, L.; Stilo, S.; Fiore, F.; Martucci, N.; Rocca, A.L.; Picone, C.; Muto, P.; Borzillo, V.; Belli, A.; Patrone, R.; Mercadante, E.; Tatangelo, F.; Ferrara, G.; Di Mauro, A.; Scognamiglio, G.; Berretta, M.; Capuozzo, M.; Lombardi, A.; Galon, J.; Gualillo, O.; Pace, U.; Delrio, P.; Savarese, G.; Scala, S.; Nasti, G.; Caraglia, M. Cancers 2023, 15, 1827. https://doi.org/10.3390/cancers15061827

• 2017 Genome-wide cfDNA screening: AMES laboratory experience with 10,500 pregnant women L. De Falco,G. Savarese, R. Ruggiero, R. D’ Angelo,P. Savarese, L. D’ Amore, C. Vicedomini, T. Suero, C. Ramiro, A. Di Carlo, E. Evangelista, L. Circelli, G. Furino, A. De Rosa, A. Fico
• 2018 Diagnosis for 17β-hydroxysteroid dehydrogenase type 3 deficiency in a Italian family by non invasive prenatal testing (NIPT) and exome sequencing (ES) L. De Falco, G. Savarese, C. Piscopo, R. Ruggiero, P. Savarese, E. Evangelista, L. D’ Amore, L. Circelli, R. D’ Angelo, T. Suero, C. Ramiro, A. Di Carlo, G. Furino, I. Pisano, C. Vicedomini, A. Fico
• 2018 Exome sequencing reveals a novel PLP1 deletion in a Italian proband with connatal Pelizaeus-Merzbacher disease: a case report L. De Falco, G. Savarese, F.F. Operto, A. Ciriello, R. Ruggiero, R. Mazza, F. Piscopo, A. Verrotti, G. Coppola, A. Frolli
• 2018 Non-Invasive Prenatal Testing: Laboratory Clinical Experience: 18880 Clinical Samples L.De Falco, G.Savarese, R.Ruggiero, P.Savarese, E.Evangelista,L.D’Amore, R.D’Angelo, T.Suero, C.Ramiro, A.Di Carlo, L.Circelli, G.Furino, C.Vicedomini, A.Fico
• 2019 Non-Invasive Prenatal Testing: Laboratory Clinical Experience: 20000 Clinical Samples G. Savarese, L. De Falco, P. Savarese, R. Ruggiero, L. D’Amore, T. Suero, L. Circelli, R. D’Angelo, C. Ramiro, I. Pisano, A. Di Carlo, E. Evangelista, G. Furino, M. Bruno, C. Vicedomini, A. Fico

• 2015
  • Congresso Nazionale FederBiologi Il laboratorio clinico oggi e in futuro
  • Corso di formazione per biologi Percorsi diagnostico terapeutici nelle malattie endocrino metaboliche nell’ASL NA1 centro 
• 2017
  • Congresso regionale AOGOI calabria Le età della donna dalla adolescenza alla senscenza
  • SIGO Pannello Trombofilico: dalla consulenza genetica ai protocolli terapeutici
  • Novità terapeutiche in Ostetricia e Ginecologia DNA NIPT: Utilità e limiti del test sul DNA fetale
• 2018
  • Università di Napoli “Parthenope” Trattamento dei tumori metastatici: è migliorata la prognosi?
  • Congresso Highlights in ginecologia e ostetricia NIPT: nuova frontiera della diagnosi prenatale
• 2019
  • Congresso SIEOG regione Toscana C’è piattaforma e piattaforma
  • Corso SIEOG Screening del primo trimestre, Bitest, translucenza nucale o NIPT?