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Ruth Armstrong

  • 813
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Expertise related to UN Sustainable Development Goals

In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):

  • SDG 3 - Good Health and Well-being

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  • Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

    Carss, K. J., Arno, G., Erwood, M., Stephens, J., Sanchis-Juan, A., Hull, S., Megy, K., Grozeva, D., Dewhurst, E., Malka, S., Plagnol, V., Penkett, C., Stirrups, K., Rizzo, R., Wright, G., Josifova, D., Bitner-Glindzicz, M., Scott, R. H., Clement, E. & Allen, L. & 290 others, Armstrong, R., Brady, A. F., Carmichael, J., Chitre, M., Henderson, R. H. H., Hurst, J., MacLaren, R. E., Murphy, E., Paterson, J., Rosser, E., Thompson, D. A., Wakeling, E., Ouwehand, W. H., Michaelides, M., Moore, A. T., Aitman, T., Alachkar, H., Ali, S., Allen, L., Allsup, D., Ambegaonkar, G., Anderson, J., Antrobus, R., Armstrong, R., Arno, G., Arumugakani, G., Ashford, S., Astle, W., Attwood, A., Austin, S., Bacchelli, C., Bakchoul, T., Bariana, T. K., Baxendale, H., Bennett, D., Bethune, C., Bibi, S., Bitner-Glindzicz, M., Bleda, M., Boggard, H., Bolton-Maggs, P., Booth, C., Brady, A., Brown, M., Browning, M., Bryson, C., Burns, S., Calleja, P., Canham, N., Carmichael, J., Carss, K., Caulfield, M., Chalmers, E., Chandra, A., Chinnery, P., Chitre, M., Church, C., Clement, E., Clements-Brod, N., Clowes, V., Coghlan, G., Collins, P., Cooper, N., Creaser-Myers, A., DaCosta, R., Daugherty, L., Davies, S., Davis, J., De Vries, M., Deegan, P., Deevi, S. V. V., Deshpande, C., Devlin, L., Dewhurst, E., Doffinger, R., Dormand, N., Drewe, E., Edgar, D., Egner, W., Erber, W. N., Erwood, M., Everington, T., Favier, R., Firth, H., Fletcher, D., Flinter, F., Fox, J. C., Frary, A., Freson, K., Furie, B., Furnell, A., Gale, D., Gardham, A., Gattens, M., Ghali, N., Ghataorhe, P. K., Ghurye, R., Gibbs, S., Gilmour, K., Gissen, P., Goddard, S., Gomez, K., Gordins, P., Gräf, S., Greene, D., Greenhalgh, A., Greinacher, A., Grigoriadou, S., Grozeva, D., Hackett, S., Hadinnapola, C., Hague, R., Haimel, M., Halmagyi, C., Hammerton, T., Hart, D., Hayman, G., Heemskerk, J. W. M., Henderson, R., Hensiek, A., Henskens, Y., Herwadkar, A., Holden, S., Holder, M., Holder, S., Hu, F., Huissoon, A., Humbert, M., Hurst, J., James, R., Jolles, S., Josifova, D., Kazmi, R., Keeling, D., Kelleher, P., Kelly, A. M., Kennedy, F., Kiely, D., Kingston, N., Koziell, A., Krishnakumar, D., Kuijpers, T. W., Kumararatne, D., Kurian, M., Laffan, M. A., Lambert, M. P., Allen, H. L., Lawrie, A., Lear, S., Lees, M., Lentaigne, C., Liesner, R., Linger, R., Longhurst, H., Lorenzo, L., Machado, R., Mackenzie, R., MacLaren, R., Maher, E., Maimaris, J., Mangles, S., Manson, A., Mapeta, R., Markus, H. S., Martin, J., Masati, L., Mathias, M., Matser, V., Maw, A., McDermott, E., McJannet, C., Meacham, S., Meehan, S., Megy, K., Mehta, S., Michaelides, M., Millar, C. M., Moledina, S., Moore, A., Morrell, N., Mumford, A., Murng, S., Murphy, E., Nejentsev, S., Noorani, S., Nurden, P., Oksenhendler, E., Ouwehand, W. H., Papadia, S., Park, S. M., Parker, A., Pasi, J., Patch, C., Paterson, J., Payne, J., Peacock, A., Peerlinck, K., Penkett, C. J., Pepke-Zaba, J., Perry, D. J., Pollock, V., Polwarth, G., Ponsford, M., Qasim, W., Quinti, I., Rankin, S., Rankin, J., Raymond, F. L., Rehnstrom, K., Reid, E., Rhodes, C. J., Richards, M., Richardson, S., Richter, A., Roberts, I., Rondina, M., Rosser, E., Roughley, C., Rue-Albrecht, K., Samarghitean, C., Sanchis-Juan, A., Sandford, R., Santra, S., Sargur, R., Savic, S., Schulman, S., Schulze, H., Scott, R., Scully, M., Seneviratne, S., Sewell, C., Shamardina, O., Shipley, D., Simeoni, I., Sivapalaratnam, S., Smith, K., Sohal, A., Southgate, L., Staines, S., Staples, E., Stauss, H., Stein, P., Stephens, J., Stirrups, K., Stock, S., Suntharalingam, J., Tait, R. C., Talks, K., Tan, Y., Thachil, J., Thaventhiran, J., Thomas, E., Thomas, M., Thompson, D., Thrasher, A., Tischkowitz, M., Titterton, C., Toh, C. H., Toshner, M., Treacy, C., Trembath, R., Tuna, S., Turek, W., Turro, E., Van Geet, C., Veltman, M., Vogt, J., von Ziegenweldt, J., Noordegraaf, A. V., Wakeling, E., Wanjiku, I., Warner, T. Q., Wassmer, E., Watkins, H., Webster, A., Welch, S., Westbury, S., Wharton, J., Whitehorn, D., Wilkins, M., Willcocks, L., Williamson, C., Woods, G., Wort, J., Yeatman, N., Yong, P., Young, T., Yu, P., Webster, A. R. & Raymond, F. L., 5 Jan 2017, In: American Journal of Human Genetics. 100, 1, p. 75-90 16 p.

    Research output: Contribution to journal › Article › peer-review

    372 Citations (Scopus)

  • Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

    Childhood Overgrowth Consortium, Dec 2013, In: American Journal of Medical Genetics. Part A. 161A, 12, p. 2972-80 9 p.

    Research output: Contribution to journal › Article › peer-review

    118 Citations (Scopus)

  • Tumor Risks and Genotype-Phenotype-Proteotype Analysis in 358 Patients With Germline Mutations in SDHB and SDHD

    Ricketts, C. J., Forman, J. R., Rattenberry, E., Bradshaw, N., Lalloo, F., Izatt, L., Cole, T. R., Armstrong, R., Kumar, V. K. A., Morrison, P. J., Atkinson, A. B., Douglas, F., Ball, S. G., Cook, J., Srirangalingam, U., Killick, P., Kirby, G., Aylwin, S., Woodward, E. R. & Evans, D. G. R. & 7 others, Hodgson, S. V., Murday, V., Chew, S. L., Connell, J. M., Blundell, T. L., Macdonald, F. & Maher, E. R., Jan 2010, In: Human Mutation. 31, 1, p. 41-51 11 p.

    Research output: Contribution to journal › Article › peer-review

    323 Citations (Scopus)