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Showing 1–6 of 6 results
Advanced filters: Author: "Stylianos E Antonarakis" Clear advanced filters

  • Four human disease geneticists express their views about the changing landscape of human disease studies and the impact of technological progress on establishing links between a pathogenic genomic variant and a disease phenotype.

    • Stylianos E. Antonarakis
    • Aravinda Chakravarti
    • John Hardy
    Reviews
    Nature Reviews Genetics
    Volume: 11, P: 380-384

  • Copy number variation constitutes a major source of inter-individual genetic variation that could explain variable disease penetrance and variation in the phenotypic expression of aneuploidies, and could be an important factor in the aetiology of complex traits. Therefore, systematic exploration of both single nucleotide and copy number variation will be key to identifying the genomic contributors to polygenic traits and diseases.

    • Jacques S. Beckmann
    • Xavier Estivill
    • Stylianos E. Antonarakis
    Reviews
    Nature Reviews Genetics
    Volume: 8, P: 639-646

  • Multifactorial disorders have grabbed the limelight in recent years, at the expense of research on monogenic traits. This shift in emphasis might not be fully justified, given the insight that seemingly 'simple' disorders can bring to genome function and complex disease aetiology.

    • Stylianos E. Antonarakis
    • Jacques S. Beckmann
    Reviews
    Nature Reviews Genetics
    Volume: 7, P: 277-282

  • In this article, the author reviews the current understanding of the genetic basis for Down syndrome phenotypes, including congenital heart defects, Alzheimer disease and leukaemia. The potential for Down syndrome therapies is discussed in light of recent progress in the field.

    • Stylianos E. Antonarakis
    Reviews
    Nature Reviews Genetics
    Volume: 18, P: 147-163