All Stories

  1. Advances in Bioinformatics, Biostatistics and Omics Sciences

    Article • November 2020, Bentham Science Publishers

    Dr Luigi Donato

  2. An Innovative Gene Prioritization Pipeline for DNA-Sequencing Analyses

    Article • November 2020, Bentham Science Publishers

    Dr Luigi Donato

  3. Innovations in Data Visualization for Straightforward Interpretation of Nucleic Acid Omics Outcomes

    Article • November 2020, Bentham Science Publishers

    Dr Luigi Donato

  4. New Integrated Differential Expression Approach for RNA-Seq Data Analysis

    Article • November 2020, Bentham Science Publishers

    Dr Luigi Donato

  5. New Integrated Mitochondrial DNA Bioinformatics Pipeline to Improve Quality Assessment of Putative Pathogenic Variants from NGS Experiments

    Article • November 2020, Bentham Science Publishers

    Dr Luigi Donato

  6. Variant Calling on RNA Sequencing Data: State of Art and Future Perspectives

    Article • November 2020, Bentham Science Publishers

    Dr Luigi Donato

  7. High-Throughput Sequencing to Detect Novel Likely Gene-Disrupting Variants in Pathogenesis of Sporadic Brain Arteriovenous Malformations

    Article • Frontiers in Genetics, February 2020, Frontiers

    Dr Luigi Donato

  8. Novel Insights into RPGR Exon ORF15: Could G-Quadruplex Folding Lead to Challenging Sequencing?

    Article • Journal of Ocular Diseases and Therapeutics, December 2019, Savvy Science Publisher

    Dr Luigi Donato

  9. Aged fingerprints for DNA profile: First report of successful typing

    Article • Forensic Science International, September 2019, Elsevier

    Dr Luigi Donato

  10. Role of oxidative stress in Retinitis pigmentosa: new involved pathways by an RNA-Seq analysis

    Article • Cell Cycle, December 2018, Taylor & Francis

    Dr Luigi Donato

  11. Vis-à-vis: a focus on genetic features of cerebral cavernous malformations and brain arteriovenous malformations pathogenesis

    Article • Neurological Sciences, December 2018, Springer Science + Business Media

    Dr Luigi Donato

  12. Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance

    Article • Frontiers in Neurology, November 2018, Frontiers

    Dr Luigi Donato

  13. GLO1 gene polymorphisms and their association with retinitis pigmentosa: a case–control study in a Sicilian population

    Article • Molecular Biology Reports, August 2018, Springer Science + Business Media

    Dr Luigi Donato

  14. Bioinformatic Analysis of a “Functional Cluster” Probably Related to Retinitis Pigmentosa

    Article • The Open Bioinformatics Journal, May 2018, Bentham Science Publishers

    Dr Luigi Donato

  15. Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis?

    Article • Investigative Ophthalmology & Visual Science, February 2018, Association for Research in Vision and Ophthalmology (ARVO)

    Dr Luigi Donato

  16. miRNAexpression profile of retinal pigment epithelial cells under oxidative stress conditions

    Article • FEBS Open Bio, January 2018, Wiley

    Dr Luigi Donato

  17. Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations

    Article • Journal of the Neurological Sciences, September 2017, Elsevier

    Dr Luigi Donato

  18. Nine differentially expressed genes from a post mortem study and their association with suicidal status in a sample of suicide completers, attempters and controls

    Article • Journal of Psychiatric Research, August 2017, Elsevier

    Dr Luigi Donato

  19. A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens

    Article • Human Genomics, August 2017, Springer Science + Business Media

    Dr Luigi Donato

  20. Possible protective role of the ABCA4 gene c.1268A>G missense variant in Stargardt disease and syndromic retinitis pigmentosa in a Sicilian family: Preliminary data

    Article • International Journal of Molecular Medicine, March 2017, Spandidos Publications

    Dr Luigi Donato

  21. Corrigendum to ‘Role of neurodevelopment involved genes in psychiatric comorbidities and modulation of inflammatory processes in Alzheimer's disease’ [J. Neurol. Sci. 370 (November 2016) 162–166]

    Article • Journal of the Neurological Sciences, January 2017, Elsevier

    Dr Luigi Donato

  22. Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations

    Article • Journal of Molecular Neuroscience, December 2016, Springer Science + Business Media

    Dr Luigi Donato

  23. Role of neurodevelopment involved genes in psychiatric comorbidities and modulation of inflammatory processes in Alzheimer's disease

    Article • Journal of the Neurological Sciences, November 2016, Elsevier

    Dr Luigi Donato

  24. CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study

    Article • BMC Medical Genetics, October 2016, Springer Science + Business Media

    Dr Luigi Donato

  25. Nine differentially expressed genes from a post mortem study and their association with suicidal status in a sample of suicide completers, attempters and controls

    Article • European Neuropsychopharmacology, October 2016, Elsevier

    Dr Luigi Donato

  26. First case of Currarino syndrome and trimethylaminuria: two rare diseases for a complex clinical presentation

    Article • Journal of Digestive Diseases, September 2016, Wiley

    Dr Luigi Donato

  27. Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations

    Article • Journal of Molecular Neuroscience, June 2015, Springer Science + Business Media

    Dr Luigi Donato