Showing 1 - 8 results of 8 for search 'Panagiotis I. Sergouniotis', query time: 0.04s Refine Results
  1. 1
    From genetic variation to precision medicine

    From genetic variation to precision medicine by Panagiotis I. Sergouniotis, Tomas Fitzgerald, Ewan Birney

    Published 2023-01-01
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  2. 2
    Generation of a human induced pluripotent stem cell line carrying the TYR c.575C>A (p.Ser192Tyr) and c.1205G>A (p.Arg402Gln) variants in homozygous state using CRISPR-Cas9 genome editing

    Generation of a human induced pluripotent stem cell line carrying the TYR c.575C>A (p.Ser192Tyr) and c.1205G>A (p.Arg402Gln) variants in homozygous state using CRISPR-Cas9 genome e... by Jingshu Liu, Graeme C. Black, Susan J. Kimber, Panagiotis I. Sergouniotis

    Published 2022-10-01
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  3. 3
    Causal factors in primary open angle glaucoma: a phenome-wide Mendelian randomisation study

    Causal factors in primary open angle glaucoma: a phenome-wide Mendelian randomisation study by Thomas H. Julian, Zain Girach, Eleanor Sanderson, Hui Guo, Jonathan Yu, Johnathan Cooper-Knock, Graeme C. Black, Panagiotis I. Sergouniotis

    Published 2023-06-01
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  4. 4
    Phenome-wide Mendelian randomisation analysis identifies causal factors for age-related macular degeneration

    Phenome-wide Mendelian randomisation analysis identifies causal factors for age-related macular degeneration by Thomas H Julian, Johnathan Cooper-Knock, Stuart MacGregor, Hui Guo, Tariq Aslam, Eleanor Sanderson, Graeme CM Black, Panagiotis I Sergouniotis

    Published 2023-01-01
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  5. 5
    An ontological foundation for ocular phenotypes and rare eye diseases

    An ontological foundation for ocular phenotypes and rare eye diseases by Panagiotis I. Sergouniotis, Emmanuel Maxime, Dorothée Leroux, Annie Olry, Rachel Thompson, Ana Rath, Peter N. Robinson, Hélène Dollfus, for the ERN-EYE Ontology Study Group

    Published 2019-01-01
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  6. 6
    Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy

    Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy by Eleanor Palmer, Karolina M. Stepien, Christopher Campbell, Stephanie Barton, Christos Iosifidis, Arunabha Ghosh, Alexander Broomfield, Alison Woodall, Gisela Wilcox, Panagiotis I. Sergouniotis, Graeme C. Black

    Published 2023-09-01
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  7. 7
    The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism

    The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism by David J. Green, Vincent Michaud, Eulalie Lasseaux, Claudio Plaisant, UK Biobank Eye and Vision Consortium, Tomas Fitzgerald, Ewan Birney, Graeme C. Black, Benoît Arveiler, Panagiotis I. Sergouniotis

    Published 2024-09-01
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  8. 8
    The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism

    The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism by Vincent Michaud, Eulalie Lasseaux, David J. Green, Dave T. Gerrard, Claudio Plaisant, UK Biobank Eye and Vision Consortium, Tomas Fitzgerald, Ewan Birney, Benoît Arveiler, Graeme C. Black, Panagiotis I. Sergouniotis

    Published 2022-07-01
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