The global impact of gene identification at the University of Manchester

Impact: Health impacts, Economic impacts, Societal impacts

Publications

  1. 2012
  2. Published

    Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type i interferon signature

    Rice, G. I., Kasher, P. R., Forte, G. M. A., Mannion, N. M., Greenwood, S. M., Szynkiewicz, M., Dickerson, J. E., Bhaskar, S. S., Zampini, M., Briggs, T. A., Jenkinson, E. M., Bacino, C. A., Battini, R., Bertini, E., Brogan, P. A., Brueton, L. A., Carpanelli, M., De Laet, C., De Lonlay, P., Del Toro, M. & 34 others, Desguerre, I., Fazzi, E., Garcia-Cazorla, À., Heiberg, A., Kawaguchi, M., Kumar, R., Lin, J. P. S. M., Lourenco, C. M., Male, A. M., Marques, W., Mignot, C., Olivieri, I., Orcesi, S., Prabhakar, P., Rasmussen, M., Robinson, R. A., Rozenberg, F., Schmidt, J. L., Steindl, K., Tan, T. Y., Van Der Merwe, W. G., Vanderver, A., Vassallo, G., Wakeling, E. L., Wassmer, E., Whittaker, E., Livingston, J. H., Lebon, P., Suzuki, T., McLaughlin, P. J., Keegan, L. P., O'Connell, M. A., Lovell, S. C. & Crow, Y. J., Nov 2012, In : Nature Genetics. 44, 11, p. 1243-1248 5 p.

    Research output: Contribution to journalArticlepeer-review

  3. 2011
  4. Published

    A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

    Renton, A. E., Majounie, E., Waite, A., Simón-Sánchez, J., Rollinson, S., Gibbs, J. R., Schymick, J. C., Laaksovirta, H., van Swieten, J. C., Myllykangas, L., Kalimo, H., Paetau, A., Abramzon, Y., Remes, A. M., Kaganovich, A., Scholz, S. W., Duckworth, J., Ding, J., Harmer, D. W., Hernandez, D. G. & 56 others, Johnson, J. O., Mok, K., Ryten, M., Trabzuni, D., Guerreiro, R. J., Orrell, R. W., Neal, J., Murray, A., Pearson, J., Jansen, I. E., Sondervan, D., Seelaar, H., Blake, D., Young, K., Halliwell, N., Callister, J. B., Toulson, G., Richardson, A., Gerhard, A., Snowden, J., Mann, D., Neary, D., Nalls, M. A., Peuralinna, T., Jansson, L., Isoviita, V. M., Kaivorinne, A. L., Hölttä-Vuori, M., Ikonen, E., Sulkava, R., Benatar, M., Wuu, J., Chiò, A., Restagno, G., Borghero, G., Sabatelli, M., Heckerman, D., Rogaeva, E., Zinman, L., Rothstein, J. D., Sendtner, M., Drepper, C., Eichler, E. E., Alkan, C., Abdullaev, Z., Pack, S. D., Dutra, A., Pak, E., Hardy, J., Singleton, A., Williams, N. M., Heutink, P., Pickering-Brown, S., Morris, H. R., Tienari, P. J. & Traynor, B. J., 20 Oct 2011, In : Neuron. 72, 2, p. 257-268 11 p.

    Research output: Contribution to journalArticlepeer-review

  5. 2004
  6. Published

    Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR

    Ng, D., Thakker, N., Corcoran, C. M., Donnai, D., Perveen, R., Schneider, A., Hadley, D. W., Tifft, C., Zhang, L., Wilkie, A. O. M., Van Der Smagt, J. J., Gorlin, R. J., Burgess, S. M., Bardwell, V. J., Black, G. C. M. & Biesecker, L. G., Apr 2004, In : Nature Genetics. 36, 4, p. 411-416 5 p.

    Research output: Contribution to journalArticlepeer-review

  7. 2002
  8. Published

    Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

    Kondo, S., Schutte, B. C., Richardson, R. J., Bjork, B. C., Knight, A. S., Watanabe, Y., Howard, E., de Lima, R. L. L. F., Daack-Hirsch, S., Sander, A., McDonald-McGinn, D. M., Zackai, E. H., Lammer, E. J., Aylsworth, A. S., Ardinger, H. H., Lidral, A. C., Pober, B. R., Moreno, L., Arcos-Burgos, M., Valencia, C. & 6 others, Houdayer, C., Bahuau, M., Moretti-Ferreira, D., Richieri-Costa, A., Dixon, M. J. & Murray, J. C., 1 Oct 2002, In : Nature Genetics. 32, 2, p. 285-289 4 p.

    Research output: Contribution to journalArticlepeer-review

  9. 1993
  10. Published

    Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2

    Tassabehji, M., Read, A. P., Newton, V. E., Patton, M., Gruss, P., Harris, R. & Strachan, T., 1993, In : Nature Genetics. 3, 1, p. 26-30 4 p.

    Research output: Contribution to journalArticlepeer-review

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