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  1. SiRNA silencing of the mutant keratin 12 allele in corneal limbal epithelial cells grown from patients with Meesmann's epithelial corneal dystrophy

    Courtney, D. G., Atkinson, S. D., Allen, E. H. A., Moore, J. E., Walsh, C. P., Leslie Pedrioli, D. M., MacEwen, C. J., Pellegrini, G., Maurizi, E., Serafini, C., Fantacci, M., Liao, H., Irvine, A. D., McLean, W. H. I. & Moore, C. B. T. 29 May 2014 In : Investigative Ophthalmology & Visual Science. 55, 5, p. 3352-3360 9 p.

    Research output: Contribution to journalArticle

  2. 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

  3. Report of the 10th annual international pachyonychia congenita consortium meeting

    van Steensel, M. A. M., Coulombe, P. A., Kaspar, R. L., Milstone, L. M., McLean, I. W. H., Roop, D. R., Smith, F. J. D., Sprecher, E. & Schwartz, M. E. Mar 2014 In : Journal of Investigative Dermatology. 134, 3, p. 588-91 4 p.

    Research output: Contribution to journalArticle

  4. Atopic dermatitis and disease severity are the main risk factors for food sensitization in exclusively breastfed infants

    Flohr, C., Perkin, M., Logan, K., Marrs, T., Radulovic, S., Campbell, L. E., Maccallum, S. F., McLean, W. H. I. & Lack, G. Feb 2014 In : Journal of Investigative Dermatology. 134, 2, p. 345-350 6 p.

    Research output: Contribution to journalArticle

  5. 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

  6. South African amaXhosa patients with atopic dermatitis have decreased levels of filaggrin breakdown products but no loss-of-function mutations in filaggrin

    Thawer-Esmail, F., Jakasa, I., Todd, G., Wen, Y., Brown, S. J., Kroboth, K., Campbell, L. E., O'Regan, G. M., McLean, W. H. I., Irvine, A. D., Kezic, S. & Sandilands, A. Jan 2014 In : Journal of Allergy and Clinical Immunology. 133, 1, p. 280-282.e1-e2 5 p.

    Research output: Contribution to journalLetter

  7. 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

  8. 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

  9. 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

  10. 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

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