Publications

Some of our most recent publications, defining our work:

·      Carpanzano S. et al. hgtseq: A Standard Pipeline to Study Horizontal Gene Transfer. Int J Mol Sci. 23(23):14512 (2022).

·      Cappelletti, E. et al. Robertsonian Fusion and Centromere Repositioning Contributed to the Formation of Satellite-free Centromeres During the Evolution of Zebras. Mol Biol Evol 39, 8 (2022).

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

·      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).

·      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).

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

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

·      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).

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

·      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).

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

·      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).

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

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

·      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).

·      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).

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

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

·      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).

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

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

·      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).

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

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

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

·      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).

·      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).

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

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

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

·      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).

·      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).

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

·      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).

·      Marie Curie fellowships unraveled an interview with Theodosius Lennon, director directorate T, DG Research, European Commission. vol. 25 (2009).

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

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

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

·      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).

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

·      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).

·      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).

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

·      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).

·      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).

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

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

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

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

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

·      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).

·      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).