Publications

Some of our most recent publications, defining our work:

1. Fiorenza, G. et al. Effect of Spiroplasma infection on the mating behavior of Glossina fuscipes fuscipes. Insect Sci (2025) doi:10.1111/1744-7917.70042.

2. Angelicola, S. et al. PD-L1 and IFN-γ modulate Non-Small Cell Lung Cancer (NSCLC) cell plasticity associated to immune checkpoint inhibitor (ICI)-mediated hyperprogressive disease (HPD). J Transl Med 23, 2 (2025).

3. Hanssen, F. et al. Scalable and efficient DNA sequencing analysis on different compute infrastructures aiding variant discovery. NAR Genomics and Bioinformatics 6, lqae031 (2024).

4. Santorsola, M. & Lescai, F. The promise of explainable deep learning for omics data analysis: Adding new discovery tools to AI. New Biotechnology 77, 1–11 (2023).

5. Singh, T. et al. Rare coding variants in ten genes confer substantial risk for schizophrenia. Nature 604, 509–516 (2022).

6. Carpanzano, S., Santorsola, M., nf-core community & Lescai, F. hgtseq: A Standard Pipeline to Study Horizontal Gene Transfer. IJMS 23, 14512 (2022).

7. Cappelletti, E. et al. Robertsonian Fusion and Centromere Repositioning Contributed to the Formation of Satellite-free Centromeres During the Evolution of Zebras. Molecular Biology and Evolution 39, msac162 (2022).

8. Dato, S., Crocco, P., Migliore, N. R. & Lescai, F. Omics in a digital world: the role of Bioinformatics in providing new insights into Human Ageing. Front Genet 12, (2021).

9. Satterstrom, F. K. et al. Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants. Nat Neurosci 22, 1961–1965 (2019).

10. Lescai, F. et al. Meta-Analysis of Scandinavian Schizophrenia Exomes. http://biorxiv.org/lookup/doi/10.1101/836957 (2019) doi:10.1101/836957.

11. Navarro, A. B. & Lescai, F. Editorial. N Biotechnol 40, 185 (2018).

12. Ganna, A. et al. Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum. Am J Hum Genet 102, 1204–1211 (2018).

13. Maretty, L. et al. Sequencing and de novo assembly of 150 genomes from Denmark as a population reference. Nature 548, 87–91 (2017).

14. Lescai, F., Diderichsen, B., Van Montagu, M. & Cole, J. In memory of Professor Brian Frederic Carl Clark: Contributions from friends. N Biotechnol 38, 3–4 (2017).

15. Lescai, F. Special issue of new biotechnology in memory of professor Brian F.C. Clark (1936-2014). N Biotechnol 38, 1 (2017).

16. Lescai, F. et al. Whole-exome sequencing of individuals from an isolated population implicates rare risk variants in bipolar disorder. Transl Psychiatry 7, e1034–e1034 (2017).

17. Poulsen, J. B. et al. High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA. PLoS One 11, e0153253 (2016).

18. Le Quesne Stabej, P. et al. STAG3 truncating variant as the cause of primary ovarian insufficiency. Eur J Hum Genet 24, 135–138 (2016).

19. Gregersen, N. O. et al. Whole-exome sequencing implicates DGKH as a risk gene for panic disorder in the Faroese population. Am J Med Genet B Neuropsychiatr Genet 171, 1013–1022 (2016).

20. Demontis, D. et al. Whole-Exome Sequencing Reveals Increased Burden of Rare Functional and Disruptive Variants in Candidate Risk Genes in Individuals With Persistent Attention-Deficit/Hyperactivity Disorder. J Am Acad Child Adolesc Psychiatry 55, 521–523 (2016).

21. Williams, H. J. et al. The use of whole-exome sequencing to disentangle complex phenotypes. Eur J Hum Genet 24, 298–301 (2015).

22. Waters, A. M. et al. The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes. J Med Genet 52, 147–156 (2015).

23. Rajkumar, A. P. et al. Experimental validation of methods for differential gene expression analysis and sample pooling in RNA-seq. BMC Genomics 16, 548 (2015).

24. Lescai, F. & Rudelsheim, P. Editorial. N Biotechnol 32, 533 (2015).

25. Besenbacher, S. et al. Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios. Nat Commun 6, 5969 (2015).

26. Thomas, A. C. et al. Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome. Am J Hum Genet 95, 611–621 (2014).

27. Lescai, F. et al. Identification and validation of loss of function variants in clinical contexts. Mol Genet Genomic Med 2, 58–63 (2014).

28. Kelberman, D. et al. Mutation of SALL2 causes recessive ocular coloboma in humans and mice. Hum Mol Genet 23, 2511–2526 (2014).

29. Webb, E. A. et al. ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies. Brain 136, 3096–3105 (2013).

30. Su, Z. et al. Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett’s esophagus. Nat Genet 44, 1131–1136 (2012).

31. Marchegiani, F. et al. Paraoxonase-1 55 LL Genotype Is Associated with No ST-Elevation Myocardial Infarction and with High Levels of Myoglobin. J Lipids 2012, 601796 (2012).

32. Lescai, F. et al. Characterisation and validation of insertions and deletions in 173 patient exomes. PLoS One 7, e51292 (2012).

33. Ellinghaus, E. et al. Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia. Leukemia 26, 902–909 (2012).

34. Taccioli, C. et al. ParkDB: a Parkinson’s disease gene expression database. Database (Oxford) 2011, bar007 (2011).

35. Lescai, F. et al. An APOE haplotype associated with decreased ε4 expression increases the risk of late onset Alzheimer’s disease. J Alzheimers Dis 24, 235–245 (2011).

36. Lescai, F. et al. Failure to replicate an association of rs5984894 SNP in the PCDH11X gene in a collection of 1,222 Alzheimer’s disease affected patients. J Alzheimers Dis 21, 385–388 (2010).

37. Lescai, F. & Franceschi, C. The impact of phenocopy on the genetic analysis of complex traits. PLoS One 5, e11876 (2010).

38. Cevenini, E. et al. Systems biology and longevity: an emerging approach to identify innovative anti-aging targets and strategies. Curr Pharm Des 16, 802–813 (2010).

39. Marie Curie Fellowships Unraveled an Interview with Theodosius Lennon, Director Directorate T, DG Research, European Commission. vol. 25 (2009).

40. Lescai, F., Marchegiani, F. & Franceschi, C. PON1 is a longevity gene: results of a meta-analysis. Ageing Res Rev 8, 277–284 (2009).

41. Lescai, F. et al. Human longevity and 11p15.5: a study in 1321 centenarians. Eur J Hum Genet 17, 1515–1519 (2009).

42. Lescai, F. Marie Curie fellowships unraveled an interview with Theodosius Lennon, director directorate T, DG Research, European Commission. N Biotechnol 25, 186–187 (2009).

43. Gravina, S. et al. Identification of single nucleotide polymorphisms in the p21 (CDKN1A) gene and correlations with longevity in the Italian population. Aging (Albany NY) 1, 470–480 (2009).

44. Lescai, F. The Young European Biotech Network (YEBN). N Biotechnol 25, 34 (2008).

45. Lescai, F. Helping young independent scientists: the EMBO Young Investigator Programme Interview with Gerlind Wallon, Deputy Executive Director, EMBO Young Investigator Programme. N Biotechnol 25, 120–121 (2008).

46. Di Bona, D. et al. Association between the interleukin-1beta polymorphisms and Alzheimer’s disease: a systematic review and meta-analysis. Brain Res Rev 59, 155–163 (2008).

47. Cevenini, E. et al. Human models of aging and longevity. Expert Opin Biol Ther 8, 1393–1405 (2008).

48. Cardelli, M. et al. A genetic-demographic approach reveals male-specific association between survival and tumor necrosis factor (A/G)-308 polymorphism. J Gerontol A Biol Sci Med Sci 63, 454–460 (2008).

49. Sevini, F., Santoro, A., Raule, N., Lescai, F. & Franceschi, C. Role of mitochondrial DNA in longevity, aging and age-related diseases in humans: a reappraisal. Ital J Biochem 56, 243–253 (2007).

50. Salvioli, S. et al. Genes, ageing and longevity in humans: problems, advantages and perspectives. Free Radic Res 40, 1303–1323 (2006).

51. Capri, M. et al. Complexity of anti-immunosenescence strategies in humans. Artif Organs 30, 730–742 (2006).

52. Salvioli, S. et al. NeuroImmune Biology. vol. 5 350 (Elsevier, 2005).

53. Lescai, F. et al. Genotype of inflammatory cytokines in limbal stem cell graft in Italian patients. Biochem Biophys Res Commun 332, 95–100 (2005).

54. Lescai, F. & Quarta, M. Young scientist: Italian biotechnologists organize. Nature 425, 644 (2003).

55. Franceschi, C. et al. Neuroinflammation and the genetics of Alzheimer’s disease: the search for a pro-inflammatory phenotype. Aging (Milano) 13, 163–170 (2001).

56. Franceschi, C. et al. Do men and women follow different trajectories to reach extreme longevity? Italian Multicenter Study on Centenarians (IMUSCE). Aging (Milano) 12, 77–84 (2000).

57. Remondini, D., Francesconi, M. & Lescai, F. Network approach to Genome-Wide Association studies. (January 1, 8).