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

Primary Cutaneous B-Cell Lymphomas with Large Cell Morphology: A Practical Review Andrea Ronchi; Paola Vitiello; Giuseppe D’Abbronzo; Stefano Caccavale; Giuseppe Argenziano; Antonello Sica; Roberto Alfano; Giovanni Savarese; Massimiliano Berretta; Immacolata Cozzolino and Renato Franco Cancers 2023, 15, 1827. https://doi.org/10.3390/cancers15061827

Application of CytoMatrix for the diagnosis of melanoma metastases on FNA cytology samples: Performance of a novele cell block method Marco Montella; Immacolata Cozzolino; Federica Zito Marino; Eduardo Clery; Emma Carraturo; Gabriella Brancaccio; Giuseppe Argenziano; Teresa Troiani; Giovanni Savarese; Massimiliano Berretta; Renato Franco; Andrea Ronchi Cancers 2023, 15, 1827. https://doi.org/10.3390/cancers15061827

The prognostic role of p53 mutations in metastatic colorectal cancer: A systematic review and meta-analysis Alessandro Ottaiano; Mariachiara Santorsola; Maurizio Capuozzo; Francesco Perri; Luisa Circelli; Marco Cascella; Monica Ianniello; Francesco Sabbatino; Vincenza Granata; Francesco Izzo; Domenico Iervolino; Marika Casillo; Nadia Petrillo; Oreste Gualillo; Guglielmo Nasti; Giovanni Savarese Cancers 2023, 15, 1827. https://doi.org/10.3390/cancers15061827

Clinical Experience with Genome-Wide Noninvasive Prenatal Screening in a Large Cohort of Twin Pregnancies Luigia De Falco; Giovanni Savarese; Pasquale Savarese; Nadia Petrillo; Monica Ianniello; Raffaella Ruggiero; Teresa Suero; Cosimo Barbato; Alessio Mori; Cristina Ramiro; Luigi Della Corte; Gabriele Saccone; Attilio Di Spiezio Sardo and Antonio Fico Cancers 2023, 15, 1827. https://doi.org/10.3390/cancers15061827

KRAS p.G12C Mutation in Metastatic Colorectal Cancer: Prognostic Implications and Advancements in Targeted Therapies Ottaiano Alessandro, Sabbatino Francesco, Perri Francesco, Cascella Marco, Sirica Roberto, Patrone Renato, Capuozzo Maurizio, Savarese Giovanni, Ianniello Monica, Petrillo Nadia, Circelli Luisa, Granata Vincenza, Berretta Massimiliano, Santorsola Mariachiara, Nasti Guglielmo Cancers 2023, 15, 3579. https://doi.org/10.3390/cancers15143579

Analysis of microsatellite instability (MSI) in pediatric gonadal and extra-gonadal germ cell tumors Marco Montella, Maria Elena Errico, Andrea Ronchi, Giuseppa Zannini, Vittoria Donofrio, Giovanni Savarese, Roberto Sirica, Francesco Esposito, Marco De Martino, Alfonso Papparella, Renato Franco, Paolo Chieffi, Federica Zito Marino Intractable & Rare Diseases Research 2023,https://doi.org/10.5582/irdr.2023.01039

BRAF p.V600E mutation as a molecular boundary between genuine oligo-repeated and poly-metastatic disease in colorectal cancer Alessandro Ottaiano, Mariachiara Santorsola, Luisa Circelli, Monica Ianniello, Marika Casillo, Nadia Petrillo, Francesco Sabbatino, Marco Cascella, Francesco Perri, Maurizio Capuozzo, Vittorio Albino, Vincenza Granata, Francesco Izzo, Annabella Di Mauro, Massimiliano Berretta, Raffaella Ruggiero, Oreste Gualillo, Roberto Sirica, Guglielmo Nasti, Giovanni Savarese Neoplasia, 44, 2023. https://doi.org/10.1016/j.neo.2023.100930

From Chaos to Opportunity: Decoding Cancer Heterogeneity for Enhanced Treatment Strategies Ottaiano Alessandro, Monica Ianniello, Mariachiara Santorsola, Raffaella Ruggiero, Roberto Sirica, Francesco Sabbatino, Francesco Perri, Marco Cascella, Massimiliano Di Marzo, Massimiliano Berretta, Michele Caraglia, Guglielmo Nasti, Giovanni Savarese Biology 12, no. 9: 1183, 2023. https://doi.org/10.3390/biology12091183

Non-invasive prenatal testing can detect silent cancers in expecting mothers. Ottaiano A, Ianniello M, Petrillo N, Santorsola M, De Falco L, Castaldi SG, Castaldi MA, Giudice V, Selleri C, Savarese G.  Genes Dis. 2023 May 18;11(2):585-588. doi: 10.1016/j.gendis.2023.04.008. PMID: 37692523; PMCID: PMC10491905.

Multifaceted Insights into Innovative Approaches to Treating Colorectal Cancer Metastasis: From Emerging Biological Factors to Radiomics Ottaiano, Alessandro, Luisa Circelli, Mariachiara Santorsola, and Michele Caraglia. 2023. Cancers 15, no. 18: 4644. https://doi.org/10.3390/cancers15184644

• 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?