| 35396579 | Rare coding variants in ten genes confer substantial risk for schizophrenia. | Nature | 2022 |
| 34178042 | Omics in a Digital World: The Role of Bioinformatics in Providing New Insights Into Human Aging. | Frontiers in Genetics | 2021 |
| 29197469 | Editorial. | New Biotechnology | 2018 |
| 29861106 | Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum. | Am J Hum Genet | 2018 |
| 28315468 | In memory of Professor Brian Frederic Carl Clark: Contributions from friends. | New Biotechnology | 2017 |
| 28746312 | Sequencing and de novo assembly of 150 genomes from Denmark as a population reference. | Nature | 2017 |
| 28195573 | Whole-exome sequencing of individuals from an isolated population implicates rare risk variants in bipolar disorder. | Transl Psychiatry | 2017 |
| 27915060 | Special issue of new biotechnology in memory of professor Brian F.C. Clark (1936-2014). | New Biotechnology | 2017 |
| 26059840 | STAG3 truncating variant as the cause of primary ovarian insufficiency. | Eur J Hum Genet | 2016 |
| 27238071 | 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 | 2016 |
| 27089011 | High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA. | PLoS One | 2016 |
| 27255576 | Whole-exome sequencing implicates DGKH as a risk gene for panic disorder in the Faroese population. | American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics | 2016 |
| 26059842 | The use of whole-exome sequencing to disentangle complex phenotypes. | Eur J Hum Genet | 2016 |
| 26208977 | Experimental validation of methods for differential gene expression analysis and sample pooling in RNA-seq. | BMC Genomics | 2015 |
| 25564561 | The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes. | J Med Genet | 2015 |
| 25597990 | Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios. | Nat Commun | 2015 |
| 26348022 | Editorial. | New Biotechnology | 2015 |
| 24498629 | Identification and validation of loss of function variants in clinical contexts. | Mol Genet Genomic Med | 2014 |
| 25439728 | Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome. | Am J Hum Genet | 2014 |
| 24412933 | Mutation of SALL2 causes recessive ocular coloboma in humans and mice. | Hum Mol Genet | 2014 |
| 24022475 | ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies. | Brain | 2013 |
| 22076464 | Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia. | Leukemia | 2012 |
| 22961001 | Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus. | Nat Genet | 2012 |
| 22536511 | Paraoxonase-1 55 LL Genotype Is Associated with No ST-Elevation Myocardial Infarction and with High Levels of Myoglobin. | | 2012 |
| 23251486 | Characterisation and validation of insertions and deletions in 173 patient exomes. | PLoS One | 2012 |
| 21593080 | ParkDB: a Parkinson's disease gene expression database. | Database (Oxford) | 2011 |
| 21263195 | An APOE haplotype associated with decreased ε4 expression increases the risk of late onset Alzheimer's disease. | Journal of Alzheimer's Disease | 2011 |
| 20555150 | Failure to replicate an association of rs5984894 SNP in the PCDH11X gene in a collection of 1,222 Alzheimer's disease affected patients. | Journal of Alzheimer's Disease | 2010 |
| 20686705 | The impact of phenocopy on the genetic analysis of complex traits. | PLoS ONE | 2010 |
| 20388091 | Systems biology and longevity: an emerging approach to identify innovative anti-aging targets and strategies. | Current Pharmaceutical Design | 2010 |
| 20126416 | Identification of single nucleotide polymorphisms in the p21 (CDKN1A) gene and correlations with longevity in the Italian population. | Aging (Albany NY) | 2009 |
| 19367319 | Human longevity and 11p15.5: a study in 1321 centenarians. | European Journal of Human Genetics | 2009 |
| 19429535 | Marie Curie fellowships unraveled an interview with Theodosius Lennon, director directorate T, DG Research, European Commission. | New Biotechnology | 2009 |
| 19376276 | PON1 is a longevity gene: results of a meta-analysis. | | 2009 |
| 18694357 | Human models of aging and longevity. | Expert Opinion on Biological Therapy | 2008 |
| 18675847 | Association between the interleukin-1beta polymorphisms and Alzheimer's disease: a systematic review and meta-analysis. | Brain Research Reviews | 2008 |
| 18511747 | A genetic-demographic approach reveals male-specific association between survival and tumor necrosis factor (A/G)-308 polymorphism. | Journals of Gerontology - Series A Biological Sciences and Medical Sciences | 2008 |
| 18504012 | The Young European Biotech Network (YEBN). | New Biotechnology | 2008 |
| 18723133 | Helping young independent scientists: the EMBO Young Investigator Programme Interview with Gerlind Wallon, Deputy Executive Director, EMBO Young Investigator Programme. | New Biotechnology | 2008 |
| 19192621 | Role of mitochondrial DNA in longevity, aging and age-related diseases in humans: a reappraisal. | Italian Journal of Biochemistry | 2007 |
| 17090420 | Genes, ageing and longevity in humans: problems, advantages and perspectives. | Free Radical Research | 2006 |
| 17026572 | Complexity of anti-immunosenescence strategies in humans. | Artificial Organs | 2006 |
| 15896304 | Genotype of inflammatory cytokines in limbal stem cell graft in Italian patients. | Biochemical and Biophysical Research Communications | 2005 |
| 14534594 | Young scientist: Italian biotechnologists organize. | Nature | 2003 |
| 11442299 | Neuroinflammation and the genetics of Alzheimer's disease: the search for a pro-inflammatory phenotype. | | 2001 |
| 10902049 | Do men and women follow different trajectories to reach extreme longevity? Italian Multicenter Study on Centenarians (IMUSCE). | Aging (Milano) | 2000 |