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CMDN Molecular Medicine

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  1. 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. 10 Apr 2014 In : PLoS ONE. 9, 4, e94270

    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. 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

  4. 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

  5. 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

  6. 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

  7. Early-onset eczema and disease severity are the main risk factors for food sensitization at 3 months of age in exclusively breastfed infants

    Greenblatt, D., Perkin, M., Logan, K., Marrs, T., Radulovic, S., Campbell, L. E., MacCallum, S. F., McLean, W. H. I., Lack, G. & Flohr, C. Jul 2013 In : British Journal of Dermatology. 169, Suppl. 1, p. 113 1 p.PA01

    Research output: Contribution to journalMeeting abstract

  8. Filaggrin gene mutation associations with peanut allergy persist despite variations in peanut allergy diagnostic criteria or asthma status

    Asai, Y., Greenwood, C., Hull, P. R., Alizadehfar, R., Ben-Shoshan, M., Brown, S. J., Campbell, L., Michel, D. L., Bussières, J., Rousseau, F., Fujiwara, T. M., Morgan, K., Irvine, A. D., McLean, W. H. I. & Clarke, A. Jul 2013 In : Journal of Allergy and Clinical Immunology. 132, 1, p. 239-242.e7 4 p.

    Research output: Contribution to journalLetter

  9. High-density genotyping study identifies four new susceptibility loci for atopic dermatitis

    Ellinghaus, D. , Baurecht, H. , Esparza-Gordillo, J. , Rodríguez, E. , Matanovic, A. , Marenholz, I. , Hübner, N. , Schaarschmidt, H. , Novak, N. , Michel, S. , Maintz, L. , Werfel, T. , Meyer-Hoffert, U. , Hotze, M. , Prokisch, H. , Heim, K. , Herder, C. , Hirota, T. , Tamari, M. , Kubo, M. & 29 others Takahashi, A., Nakamura, Y., Tsoi, L. C., Stuart, P., Elder, J. T., Sun, L., Zuo, X., Yang, S., Zhang, X., Hoffmann, P., Nöthen, M. M., Fölster-Holst, R., Winkelmann, J., Illig, T., Boehm, B. O., Duerr, R. H., Büning, C., Brand, S., Glas, J., McAleer, M. A., Fahy, C. M., Kabesch, M., Brown, S., McLean, W. H. I., Irvine, A. D., Schreiber, S., Lee, Y-A., Franke, A. & Weidinger, S. Jul 2013 In : Nature Genetics. 45, 7, p. 808-812 5 p.

    Research output: Contribution to journalArticle

  10. The pharmacogenetics of body odor: as easy as ABCC?

    Brown, S. Jul 2013 In : Journal of Investigative Dermatology. 133, 7, p. 1709-1711 3 p.

    Research output: Contribution to journalArticle

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