Sandilands, Aileen

Dr

  • 7120 Citations
  • 37 h-Index
19952018

Research output per year

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Projects

Research Output

A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis

Yu, X., Chen, F., Ni, C., Zhang, G., Zheng, L., Zhang, J., Li, C., Sandilands, A., Yao, Z. & Li, M., Jan 2018, In : Journal of Investigative Dermatology. 138, 1, p. 230-233 4 p.

Research output: Contribution to journalLetter

Open Access
File
3 Citations (Scopus)
133 Downloads (Pure)

Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants

Wong, X. F. C. C., Denil, S. L. I. J., Foo, J. N., Chen, H., Ling Tay, A. S., Haines, R. L., Tang, M. B. Y., McLean, W. H. I., Sandilands, A., Smith, F. J. D., Lane, E. B., Liu, J. & Common, J. E. A., Feb 2018, In : Journal of Allergy and Clinical Immunology. 141, 2, p. 814-816 3 p.

Research output: Contribution to journalLetter

Open Access
File
  • 15 Citations (Scopus)
    231 Downloads (Pure)

    Calpain 12 function revealed through the study of an atypical case of autosomal recessive congenital ichthyosis

    Bochner, R., Samuelov, L., Sarig, O., Li, Q., Adase, C. A., Isakov, O., Malchin, N., Vodo, D., Shayevitch, R., Peled, A., Yu, B. D., Fainberg, G., Warshauer, E., Adir, N., Erez, N., Gat, A., Gottlieb, Y., Rogers, T., Pavlovsky, M., Goldberg, I. & 9 others, Shomron, N., Sandilands, A., Campbell, L. E., MacCallum, S., McLean, W. H. I., Ast, G., Gallo, R. L., Uitto, J. & Sprecher, E., Feb 2017, In : Journal of Investigative Dermatology. 137, 2, p. 385-393 9 p.

    Research output: Contribution to journalArticle

    Open Access
    File
  • 5 Citations (Scopus)
    143 Downloads (Pure)

    Mutations in desmoglein-1 cause diverse inherited palmoplantar keratoderma phenotypes: implications for genetic screening

    Lovgren, M-L., McAleer, M. A., Irvine, A. D., Wilson, N. J., Tavadia, S., Schwartz, M. E., Cole, C., Sandilands, A., Smith, F. J. D. & Zamiri, M., 2 Apr 2017, In : British Journal of Dermatology.

    Research output: Contribution to journalArticle

    Open Access
    File
  • 12 Citations (Scopus)
    129 Downloads (Pure)

    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., Apr 2015, In : Journal of the European Academy of Dermatology and Venereology. 29, 4, p. 805-808 4 p.

    Research output: Contribution to journalArticle

  • 4 Citations (Scopus)

    Activities

    • 1 Editorial activity

    Scientific Reports (Journal)

    Aileen Sandilands (Editorial board member)
    27 Sep 2016

    Activity: Publication peer-review and editorial work typesEditorial activity

    Press / Media

    Rare skin disease gene discovered

    Elizabeth Pohler, Alan Irvine, Toshifumi Nomura, John A. McGrath, W. H. Irwin McLean, Neil Wilson, Frances J. D. Smith, Aileen Sandilands, Christian Cole, Alan Evans, Sara J. Brown & David R. Goudie

    15/10/12

    1 item of Media coverage

    Press/Media: Research

    Thesis

    Identification and characterization of the gene responsible for the matted mouse phenotype

    Author: Goh, C., 2013

    Supervisor: Sandilands, A. (Supervisor), McLean, W. (Supervisor) & Crouch, D. (Supervisor)

    Student thesis: Doctoral ThesisDoctor of Philosophy

    File