Ivana Persico


Area of interest:

Dr. Ivana Persico, graduated in Biological Sciences at the University of Sassari in 1996started her experience at CNR in 1997 as post-graduated fellow, following a research project aimed to identify genetic factors predisposing to breast cancer. Then, during her PhD and for the next decade, she studied qualitative and quantitative genetic traits as risk factors associated with complex diseases in isolated populations. Over the past few years, her research has been based on rare Mendelian diseases and syndromic forms: from the molecular diagnosis of the Crisponi/Cold Induced Sweating syndrome type 1, to the dissection of the genetic basis of intellectual disability by next-generation sequencing technologies (NGS).  

Since late 2019, her area of interest has been focused on clinical cancer genetics and precision oncology. In particular, she has been working on understanding the molecular mechanisms underlying the pathogenesis of Idiopathic Pulmonary Fibrosis (IPF) and its progression to lung cancer through NGS mutational analysis using multi-biomarker assays.

Most significant publications:


Sini, Maria Cristina; Doro, Maria Grazia; Frogheri, Laura; Zinellu, Angelo; Paliogiannis, Panagiotis; Porcu, Alberto; Scognamillo, Fabrizio; Delogu, Daniele; Santeufemia, Davide Adriano; Persico, Ivana; Palomba, Grazia; Maestrale, Giovanni Battista; Cossu, Antonio; Palmieri, Giuseppe

Combination of mutations in genes controlling DNA repair and high mutational load plays a prognostic role in pancreatic ductal adenocarcinoma (PDAC): a retrospective real-life study in Sardinian population Journal Article

In: J Transl Med, 22 (1), pp. 108, 2024, ISSN: 1479-5876.

Abstract | Links | BibTeX


Lobrano, Renato; Paliogiannis, Panagiotis; Zinellu, Angelo; Palmieri, Giuseppe; Persico, Ivana; Mangoni, Arduino A; Cossu, Antonio

PD-L1 Expression in Cutaneous Angiosarcomas: A Systematic Review with Meta-Analysis Journal Article

In: Curr Oncol, 30 (5), pp. 5135–5144, 2023, ISSN: 1718-7729.

Abstract | Links | BibTeX


Buers, I.; Persico, I.; Schöning, L.; Nitschke, Y.; Di Rocco, M.; Loi, A.; Sahi, P. K.; Utine, G. E.; Bayraktar-Tanyeri, B.; Zampino, G.; Crisponi, G.; Rutsch, F.; Crisponi, L.

Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts Journal Article

In: Clin Genet, 97 (1), pp. 209–221, 2020.

Abstract | BibTeX


Angius, A.; Uva, P.; Oppo, M.; Persico, I.; Onano, S.; Olla, S.; Pes, V.; Perria, C.; Cuccuru, G.; Atzeni, R.; Serra, G.; Cucca, F.; Sotgiu, S.; Hennekam, R. C.; Crisponi, L.

Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP Journal Article

In: 179 (4), pp. 634–638, 2019, ([DOI:hrefhttps://dx.doi.org/10.1002/ajmg.a.6105210.1002/ajmg.a.61052] [PubMed:hrefhttps://www.ncbi.nlm.nih.gov/pubmed/3073788730737887]).

Abstract | BibTeX

Angius, A.; Uva, P.; Oppo, M.; Buers, I.; Persico, I.; Onano, S.; Cuccuru, G.; Van Allen, M. I.; Hulait, G.; Aubertin, G.; Muntoni, F.; Fry, A. E.; Anner?n, G.; Stattin, E. L.; Palomares-Bralo, M.; Santos-Simarro, F.; Cucca, F.; Crisponi, G.; Rutsch, F.; Crisponi, L.

Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses Journal Article

In: Clin Genet, 95 (5), pp. 607–614, 2019.

Abstract | BibTeX


Angius, Andrea; Uva, Paolo; Buers, Insa; Oppo, Manuela; Puddu, Alessandro; Onano, Stefano; Persico, Ivana; Loi, Angela; Marcia, Loredana; Höhne, Wolfgang; Cuccuru, Gianmauro; Fotia, Giorgio; Deiana, Manila; Marongiu, Mara; Atalay, Hatice Tuba; Inan, Sibel; Assy, Osama El; Smit, Leo M E; Okur, Ilyas; Boduroglu, Koray; Utine, Gülen Eda; Kılıç, Esra; Zampino, Giuseppe; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa Journal Article

In: American Journal of Human Genetics, 99 (1), pp. 236–245, 2016, ISSN: 1537-6605.

Abstract | Links | BibTeX


Köttgen, Anna; Albrecht, Eva; Teumer, Alexander; Vitart, Veronique; Krumsiek, Jan; Hundertmark, Claudia; Pistis, Giorgio; Ruggiero, Daniela; ...,; Tore, Silvia; ...,; Ripatti, Samuli; Soranzo, Nicole; Toniolo, Daniela; Chasman, Daniel I; Raitakari, Olli; Kao, W H Linda; Ciullo, Marina; Fox, Caroline S; Caulfield, Mark; Bochud, Murielle; Gieger, Christian

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations Journal Article

In: Nature Genetics, 45 (2), pp. 145–154, 2013, ISSN: 1546-1718.

Abstract | Links | BibTeX