No photo of Ruth Armstrong

Ruth Armstrong

  • 770
    Citations
Filter
Article

Search results

  • 2017

    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 journalArticlepeer-review

    343 Citations (Scopus)
  • 2013

    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 journalArticlepeer-review

    113 Citations (Scopus)
  • 2010

    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 journalArticlepeer-review

    314 Citations (Scopus)
Your message has successfully been sent.
Your message was not sent due to an error.