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Showing 1–5 of 5 results
Advanced filters: Author: "Giovanni Coppola" Clear advanced filters
  • Anterior Uveitis is a common inflammatory eye disease that can result in vision loss. Here, the authors perform GWAS and whole-exome analyses of Anterior Uveitis to identify the underlying genetics of HLA-B*27 positive and negative forms of the disease.

    • Sahar Gelfman
    • Arden Moscati
    • Giovanni Coppola
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-13
  • An exome-wide association study of six smoking phenotypes in up to 749,459 individuals identifies associations of rare coding variants in CHRNB2 that may reduce the likelihood of smoking.

    • Veera M. Rajagopal
    • Kyoko Watanabe
    • Giovanni Coppola
    ResearchOpen Access
    Nature Genetics
    Volume: 55, P: 1138-1148
  • The postgenomic era has seen important advances in the ability to perform large-scale analysis, using microarrays, of the genome at the level of gene sequence, gene copy number and messenger RNA transcript expression. In this review, Coppola and Geschwind discuss how microarray technology is being used to study of the genetics and pathogenesis of neurological disorders, and how it might be used in the future for patient diagnosis and classification into treatment groups.

    • Giovanni Coppola
    • Daniel H Geschwind
    Reviews
    Nature Clinical Practice Neurology
    Volume: 2, P: 147-158
  • Rare variant association data from human genetics combined with in vitro and in vivo functional validation highlight ANGPTL7 as a promising therapeutic target for intraocular pressure reduction, and protection from glaucoma.

    • Kavita Praveen
    • Gaurang C. Patel
    • Giovanni Coppola
    ResearchOpen Access
    Communications Biology
    Volume: 5, P: 1-15