Search results

• 2015

  Gene discovery for motile cilia disorders: Mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151

  Onoufriadis, A., Hjeij, R., Watson, C. M., Slagle, C. E., Klena, N. T., Dougherty, G. W., Kurkowiak, M., Loges, N. T., Diggle, C. P., Morante, N. F., Gabriel, G. C., Lemke, K. L., Li, Y., Pennekamp, P., Menchen, T., Marthin, J. K., Mans, D., Letteboer, S. J., Werner, C., Burgoyne, T., & 13 othersWestermann, C., Rutman, A., Carr, I. M., O'Callaghan, C., Moya, E., Chung, E. M. K., Sheridan, E., Nielsen, K. G., Roepman, R., Burdine, R. D., Lo, C. W., Omran, H. & Mitchison, H., 13 Jul 2015, In: Cilia. SUPPLEMENT 1, P30.

  Research output: Contribution to journal › Article › peer-review
• 2012

  Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity

  Tsoi, L. C., Spain, S. L., Knight, J., Ellinghaus, E., Stuart, P. E., Capon, F., Ding, J., Li, Y., Tejasvi, T., Gudjonsson, J. E., Kang, H. M., Allen, M. H., McManus, R., Novelli, G., Samuelsson, L., Schalkwijk, J., Ståhle, M., Burden, A. D., Smith, C. H., Cork, M. J., & 31 othersEstivill, X., Bowcock, A. M., Krueger, G. G., Weger, W., Worthington, J., Tazi-Ahnini, R., Nestle, F. O., Hayday, A., Hoffmann, P., Winkelmann, J., Wijmenga, C., Langford, C., Edkins, S., Andrews, R., Blackburn, H., Strange, A., Band, G., Pearson, R. D., Vukcevic, D., Spencer, C. C. A., Onoufriadis, A., Weale, M. E., Campbell, L. E., Mathew, C. G., Plomin, R., Viswanathan, A. C., Gray, E., Weston, P., Barker, J. N. W. N., Trembath, R. C. & Collaborative Association Study of Psoriasis (CASP), Dec 2012, In: Nature Genetics. 44, 12, p. 1341-1348 8 p.

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

  • Candidate Gene 100%
  • Genetics 50%
  • Genetic Architecture 50%
  • RUNX3 50%
  • CARM1 50%
  807 Citations (Scopus)
• 2011

  Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis

  Onoufriadis, A., Simpson, M. A., Pink, A. E., Di Meglio, P., Smith, C. H., Pullabhatla, V., Knight, J., Spain, S. L., Nestle, F. O., Burden, A. D., Capon, F., Trembath, R. C. & Barker, J. N., 9 Sept 2011, In: American Journal of Human Genetics. 89, 3, p. 432-437 6 p.

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

  • Interleukin-1 100%
  • Missense 100%
  • Genetics 50%
  • Indel 50%
  • Heterozygote 50%
  450 Citations (Scopus)