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  1. The molecular genetic analysis of the expanding pachyonychia congenita case collection

    Wilson, N. J., O'Toole, E., Milstone, L. M., Hansen, C. D., Shepherd, A. A., Al-Asadi, E., Schwartz, M. E., McLean, W. H. I., Sprecher, E. & Smith, F. J. D. 10 Mar 2014 In : British Journal of Dermatology.

    Research output: Contribution to journalArticle

  2. A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused by DSP mutations

    Vahlquist, A., Virtanen, M., Hellström-Pigg, M., Dragomir, A., Ryberg, K., Wilson, N. J., Östman-Smith, I., Lu, L., McGrath, J. A. & Smith, F. J. D. Jan 2014 In : Clinical and Experimental Dermatology. 39, 1, p. 30-34 5 p.

    Research output: Contribution to journalArticle

  3. Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR

    Campbell, P. , Morton, P. E. , Takeichi, T. , Salam, A. , Roberts, N. , Proudfoot, L. E. , Mellerio, J. E. , Aminu, K. , Wellington, C. , Patil, S. N. , Akiyama, M. , Liu, L. , McMillan, J. R. , Aristodemou, S. , Ishida-Yamamoto, A. , Abdul-Wahab, A. , Petrof, G. , Fong, K. , Harnchoowong, S. , Stone, K. L. & 5 others Harper, J. I., McLean, W. H. I., Simpson, M. A., Parsons, M. & McGrath, J. A. 2014 In : Journal of Investigative Dermatology.

    Research output: Contribution to journalArticle

  4. Improved annotation of 3' untranslated regions and complex loci by combination of strand-specific direct RNA sequencing, RNA-seq and ESTs

    Schurch, N. J., Cole, C., Sherstnev, A., Song, J., Duc, C., Storey, K. G., McLean, W. H. I., Brown, S. J., Simpson, G. G. & Barton, G. J. 2014 In : PLoS ONE. 9, 4, e94270

    Research output: Contribution to journalArticle

  5. Loss-of-function mutations in the gene encoding filaggrin underlie a Japanese family with food-dependent exercise-induced anaphylaxis

    Mizuno, O., Nomura, T., Ohguchi, Y., Suzuki, S., Nomura, Y., Hamade, Y., Hoshina, D., Sandilands, A., Akiyama, M., McLean, W. H. I., Abe, R. & Shimizu, H. 2014 In : Journal of the European Academy of Dermatology and Venereology.

    Research output: Contribution to journalArticle

  6. Plectin mutations underlie epidermolysis bullosa simplex in 8% of patients

    Bolling, M. C., Jongbloed, J. D. H., Boven, L. G., Diercks, G. F. H., Smith, F. J. D., McLean, W. H. I. & Jonkman, M. F. 2014 In : Journal of Investigative Dermatology. 134, 1, p. 273-276 4 p.

    Research output: Contribution to journalLetter

  7. Siglec-E promotes β2-integrin-dependent NADPH oxidase activation to suppress neutrophil recruitment to the lung

    McMillan, S. J., Sharma, R. S., Richards, H. E., Hegde, V. & Crocker, P. R. 2014 In : Journal of Biological Chemistry.

    Research output: Contribution to journalArticle

  8. A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis

    Brown, S. J. & 32 others Weidinger, S., Willis-Owen, S. A. G., Kamatani, Y., Baurecht, H., Morar, N., Liang, L., Edser, P., Street, T., Rodriguez, E., O'Regan, G. M., Beattie, P., Fölster-Holst, R., Franke, A., Novak, N., Fahy, C. M., Winge, M. C. G., Kabesch, M., Illig, T., Heath, S., Söderhäll, C., Melén, E., Pershagen, G., Kere, J., Bradley, M., Lieden, A., Nordenskjold, M., Harper, J. I., McLean, W. H. I., Cookson, W. O. C., Lathrop, G. M., Irvine, A. D. & Moffatt, M. F. Dec 2013 In : Human Molecular Genetics. 22, 23, p. 4841-4856 16 p.

    Research output: Contribution to journalArticle

  9. The RNA helicase p68 (DDX5) is selectively required for the induction of p53-dependent p21 expression and cell-cycle arrest after DNA damage

    Nicol, S. M., Bray, S. E., Derek Black, H., Lorimore, S. A., Wright, E. G., Lane, D. P., Meek, D. W., Coates, P. J. & Fuller-Pace, F. V. 18 Jul 2013 In : Oncogene. 32, 29, p. 3461-3469 9 p.

    Research output: Contribution to journalArticle

  10. Clouston syndrome caused by a heterozygous mutation in connexin 30, resembling pachyonychia congenita

    Hale, G., Wilson, N., Smith, F. & Zamiri, M. Jul 2013 In : British Journal of Dermatology. 169, Suppl. 1, p. 33-33 1 p.P31

    Research output: Contribution to journalMeeting abstract

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