Hasil Pencarian - Jamie M. Ellingford

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  1. 1
    Pathogenic Intronic Splice-Affecting Variants in <i>MYBPC3</i> in Three Patients with Hypertrophic Cardiomyopathy

    Pathogenic Intronic Splice-Affecting Variants in <i>MYBPC3</i> in Three Patients with Hypertrophic Cardiomyopathy oleh Katherine A. Wood, Jamie M. Ellingford, James Eden, Huw B. Thomas, Raymond T. O’Keefe, Claire Hopton, William G. Newman

    Diterbitkan 2021-06-01
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  2. 2
    Genomic and healthcare dynamics of nosocomial SARS-CoV-2 transmission

    Genomic and healthcare dynamics of nosocomial SARS-CoV-2 transmission oleh Jamie M Ellingford, Ryan George, John H McDermott, Shazaad Ahmad, Jonathan J Edgerley, David Gokhale, William G Newman, Stephen Ball, Nicholas Machin, Graeme CM Black

    Diterbitkan 2021-03-01
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  3. 3
    Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

    Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders oleh Charlie Rowlands, Huw B. Thomas, Jenny Lord, Htoo A. Wai, Gavin Arno, Glenda Beaman, Panagiotis Sergouniotis, Beatriz Gomes-Silva, Christopher Campbell, Nicole Gossan, Claire Hardcastle, Kevin Webb, Christopher O’Callaghan, Robert A. Hirst, Simon Ramsden, Elizabeth Jones, Jill Clayton-Smith, Andrew R. Webster, Genomics England Research Consortium, Andrew G. L. Douglas, Raymond T. O’Keefe, William G. Newman, Diana Baralle, Graeme C. M. Black, Jamie M. Ellingford

    Diterbitkan 2021-10-01
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  4. 4
    Recommendations for clinical interpretation of variants found in non-coding regions of the genome

    Recommendations for clinical interpretation of variants found in non-coding regions of the genome oleh Jamie M. Ellingford, Joo Wook Ahn, Richard D. Bagnall, Diana Baralle, Stephanie Barton, Chris Campbell, Kate Downes, Sian Ellard, Celia Duff-Farrier, David R. FitzPatrick, John M. Greally, Jodie Ingles, Neesha Krishnan, Jenny Lord, Hilary C. Martin, William G. Newman, Anne O’Donnell-Luria, Simon C. Ramsden, Heidi L. Rehm, Ebony Richardson, Moriel Singer-Berk, Jenny C. Taylor, Maggie Williams, Jordan C. Wood, Caroline F. Wright, Steven M. Harrison, Nicola Whiffin

    Diterbitkan 2022-07-01
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