Research Output per year
Research Output 1972 2020
Novel mutations in desmoglein 1: Focal palmoplantar keratoderma in milder phenotypes
Zamiri, M., Wilson, N. J., O'Toole, E. A. & Smith, F. J. D., 1 Sep 2019, In : British Journal of Dermatology. 181, 3, p. 618-620 3 p.Research output: Contribution to journal › Letter
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 journal › Letter
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 journal › Letter
Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes
Pigors, M., Common, J. E. A., Wong, X. F. C. C., Malik, S., Scott, C. A., Tabarra, N., Liany, H., Liu, J., Limviphuvadh, V., Maurer-Stroh, S., Tang, M. B., Lench, N., Margolis, D. J., van Heel, D. A., Mein, C. A., Novak, N., Baurecht, H., Weidinger, S., McLean, W. H. I., Irvine, A. D. & 3 others, , Dec 2018, In : Journal of Investigative Dermatology. 138, 12, p. 2674-2677 4 p.Research output: Contribution to journal › Letter
Filaggrin gene mutations may influence the persistence of food allergies in Japanese primary school children
Kono, M., Akiyama, M., Inoue, Y., Nomura, T., Hata, A., Okamoto, Y., Takeichi, T., Muro, Y., McLean, W. H. I., Shimizu, H., Sugiura, K., Suzuki, Y. & Shimojo, N., 19 Jul 2018, In : British Journal of Dermatology. 179, 1, p. 190-191 2 p.Research output: Contribution to journal › Letter
Painful punctate palmoplantar keratoderma due to heterozygous mutations in AAGAB
Zamiri, M., Wilson, N. J., Mackenzie, A., Sobey, G., Leitch, C. & Smith, F. J. D., 19 Nov 2018, In : The British journal of dermatology. 7 p.Research output: Contribution to journal › Letter
Patients with atopic dermatitis with filaggrin loss-of-function mutations show good but lower responses to immunosuppressive treatment
Roekevisch, E., Leeflang, M. M. G., Schram, M. E., Campbell, L. E., Irwin McLean, W. H., Kezic, S., Bos, J. D., Spuls, P. I. & Middelkamp-Hup, M. A., 8 Jan 2018, In : British Journal of Dermatology. 177, 6, p. 1745-1746 2 p.Research output: Contribution to journal › Letter
Skin fragility, woolly hair syndrome with a desmoplakin mutation – a case from India
Peter, D. C. V., Thomas, M., Wilson, N. J. & Smith, F. J. D., Sep 2018, In : International Journal of Dermatology. 57, 9, p. e73-e75 3 p.Research output: Contribution to journal › Letter
Striate palmoplantar keratoderma resulting from a missense mutation in DSG1
Vodo, D., O'Toole, E. A., Malchin, N., Lahav, A., Adir, N., Sarig, O., Green, K., Smith, F. J. D. & Sprecher, E., 17 Sep 2018, In : British Journal of Dermatology. 179, 3, p. 755-757 3 p.Research output: Contribution to journal › Letter
Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4-related autoinflammatory disease, expansion of the phenotype
Volker-Touw, C. M. L., de Koning, H. D., Giltay, J., de Kovel, C., van Kempen, T. S., Oberndorff, K., Boes, M., van Steensel, M. A. M., van Well, G. T. J., Blokx, W. A. M., Schalkwijk, J., Simon, A., Frenkel, J. & van Gijn, M. E., Jan 2017, In : British Journal of Dermatology. 176, 1, p. 244-248 5 p.Research output: Contribution to journal › Letter
Keratin 6b variant p.Gly499Ser reported in delayed-onset pachyonychia congenita is a non-pathogenic polymorphism
Smith, F. J. D. & McLean, W. H. I., 3 Dec 2017, In : Journal of Dermatology. 44, 12, p. e312 1 p.Research output: Contribution to journal › Letter
Mutations in POGLUT1 in Galli-Galli/Dowling Degos-disease
Wilson, N. J., Cole, C., Kroboth, K., Hunter, W. N., Mann, J. A., Irwin McLean, W. H., Kernland Lang, K., Beltraminelli, H., Sabroe, R. A., Tiffin, N., Sobey, G. J., Borradori, L., Simpson, E. & Smith, F. J. D., Jan 2017, In : British Journal of Dermatology. 176, 1, p. 270-274 5 p.Research output: Contribution to journal › Letter
A novel KRT6A mutation in a case of pachyonychia congenita from India
Tiwary, A. K., Wilson, N. J., Schwartz, M. E. & Smith, F. J. D., 2 Dec 2016, In : Indian Journal of Dermatology, Venereology and Leprology. 83, 1, p. 95-98 4 p.Research output: Contribution to journal › Letter
Filaggrin genotype does not determine the skin's threshold to UV-induced erythema
Forbes, D., Johnston, L., Gardner, J., MacCallum, S. F., Campbell, L. E., Dinkova-Kostova, A. T., McLean, W. H. I., Ibbotson, S. H., Dawe, R. S. & Brown, S. J., Apr 2016, In : Journal of Allergy and Clinical Immunology. 137, 4, p. 1280-1282.e3 6 p.Research output: Contribution to journal › Letter
Focal PPK secondary to a novel KRT6C mutation (Pachyonychia congenita-K6c)
Wee, J. S., Smith, F. J. D., Wilson, N. J. & O'Toole, E. A., 12 Aug 2016, In : Journal of the European Academy of Dermatology and Venereology. 30, 8, p. 1415-1416 2 p.Research output: Contribution to journal › Letter
Open Lab as a source of hits and leads against tuberculosis, malaria and kinetoplastid diseases
Ballell, L., Strange, M., Cammack, N., Fairlamb, A. H. & Borysiewicz, L., Apr 2016, In : Nature Reviews Drug Discovery. 15, 4, 3 p., 292.Research output: Contribution to journal › Letter
The structure of a Trypanosoma cruzi glucose-6-phosphate dehydrogenase reveals differences from the mammalian enzyme
Mercaldi, G. F., Dawson, A., Hunter, W. N. & Cordeiro, A. T., 19 Aug 2016, In : FEBS Letters. 590, 16, p. 2776-2786 11 p.Research output: Contribution to journal › Letter
Expanding the phenotypic spectrum of Olmsted syndrome
Wilson, N. J., Cole, C., Milstone, L. M., Kiszewski, A. E., Hansen, C. D., O'Toole, E. A., Schwartz, M. E., McLean, W. H. I. & Smith, F. J. D., Nov 2015, In : Journal of Investigative Dermatology. 135, 11, p. 2879-2883 5 p.Research output: Contribution to journal › Letter
Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis
Paternoster, L., Standl, M., Waage, J., Baurecht, H., Hotze, M., Strachan, D. P., Curtin, J. A., Bønnelykke, K., Tian, C., Takahashi, A., Esparza-Gordillo, J., Alves, A. C., Thyssen, J. P., Den Dekker, H. T., Ferreira, M. A., Altmaier, E., Sleiman, P. M. A., Xiao, F. L., Gonzalez, J. R., Marenholz, I. & 130 others, , Dec 2015, In : Nature Genetics. 47, 12, p. 1449-1456 8 p.Research output: Contribution to journal › Letter
Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis
Pohler, E., Cunningham, F., Sandilands, A., Cole, C., Digby, S., McMillan, J. R., Aristodemou, S., McGrath, J. A., Smith, F. J. D., Mclean, W. H. I., Munro, C. S. & Zamiri, M., 26 Nov 2015, In : British Journal of Dermatology. 173, 5, p. 1292-1294 4 p.Research output: Contribution to journal › Letter
Genome-wide dissection of the quorum sensing signalling pathway in Trypanosoma brucei
Mony, B. M., MacGregor, P., Ivens, A., Rojas, F., Cowton, A., Young, J., Horn, D. & Matthews, K., 30 Jan 2014, In : Nature. 505, 7485, p. 681-685 5 p.Research output: Contribution to journal › Letter
In Vitro and In Vivo studies of trypanocidal activity of dietary isothiocyanates
Steverding, D., Michaels, S. & Read, K. D., 22 Jan 2014, In : Planta Medica.Research output: Contribution to journal › Letter
Is NMR fragment screening fine-tuned to assess druggability of protein-protein interactions?
Dias, D. M., Van Molle, I., Baud, M. G. J., Galdeano, C., Geraldes, C. F. G. C. & Ciulli, A., 9 Jan 2014, In : ACS Medicinal Chemistry Letters. 5, 1, p. 23-28 6 p.Research output: Contribution to journal › Letter
New and recurrent AAGAB mutations in punctate palmoplantar keratoderma
Pohler, E., Huber, M., Boonen, S. E., Zamiri, M., Gregersen, P. A., Sommerlund, M., Ramsing, M., Hohl, D., McLean, W. H. I. & Smith, F. J., 18 Aug 2014, In : British Journal of Dermatology. 171, 2, p. 433-436 4 p.Research output: Contribution to journal › Letter
Resolution of the plantar hyperkeratosis of pachyonychia congenita during chemotherapy for Ewing sarcoma
Higgins, E., Capra, M., Schwartz, M. E., Smith, F. J. D., McLean, W. H. I. & Irvine, A. D., Dec 2013, In : British Journal of Dermatology. 169, 6, p. 1357-1360 4 p.Research output: Contribution to journal › Letter
Triclosan is minimally effective in rodent malaria models
Baschong, W., Wittlin, S., Inglis, K. A., Fairlamb, A. H., Croft, S. L., Kumar, T. R. S., Fidock, D. A. & Brun, R., Jan 2011, In : Nature Medicine. 17, 1, p. 33-34 2 p.Research output: Contribution to journal › Letter
Evidence for genetic modifiers other than filaggrin mutations in X-linked ichthyosis
Gruber, R., Janecke, A. R., Grabher, D., Sandilands, A., Fauth, C. & Schmuth, M., 13 Apr 2010, In : Journal of Dermatological Science. 58, 1, p. 72-75 4 p.Research output: Contribution to journal › Letter
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
Wen, Y., Liu, Y., Xu, Y., Zhao, Y., Hua, R., Wang, K., Sun, M., Li, Y., Yang, S., Zhang, X-J., Kruse, R., Cichon, S., Betz, R. C., Noethen, M. M., van Steensel, M. A. M., van Geel, M., Steijlen, P. M., Hohl, D., Huber, M., Dunnill, G. S. & 20 others, , Feb 2009, In : Nature Genetics. 41, 2, p. 228-233 6 p.Research output: Contribution to journal › Letter
Chronic myeloid leukemia CD34+ cells have elevated levels of phosphatidylinositol 3,4,5 trisphosphate (PtdIns(3,4,5)P3) and lack a PtdIns(3,4,5)P3 response to cytokines and chemotactic factors; effects reversed by imatinib [9]
Hamzah, H. G., Pierce, A., Stewart, W. A., Downes, C. P., Gray, A., Irvine, A., Spooncer, E. & Whetton, A. D., 18 Aug 2005, In : Leukemia. 19, 10, p. 1851-1853 3 p.Research output: Contribution to journal › Letter