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Research Outputs

  1. 2017
  2. Tissue and circulating microRNA co-expression analysis reveals potential involvement of miRNAs in the pathobiology of frontal fibrosing alopecia

    Tziotzios, C., Ainali, C., Holmes, S., Cunningham, F., Lwin, S. M., Palamaras, I., Bhargava, K., Rymer, J., Stefanato, C., Kirkpatrick, N., Vano-Galvan, S., Petridis, C., Fenton, D. A., Simpson, M. A., Onoufriadis, A. & McGrath, J. A., 31 Jul 2017, In : Journal of Investigative Dermatology. 137, 11, p. 2440-2443

    Research output: Contribution to journalLetter

  3. Acne and Telomere Length: A New Spectrum between Senescence and Apoptosis Pathways

    Ribero, S., Sanna, M., Visconti, A., Navarini, A., Aviv, A., Glass, D., Spector, T. D., Smith, C., Simpson, M., Barker, J., Mangino, M., Falchi, M. & Bataille, V., Feb 2017, In : Journal of Investigative Dermatology. 137, 2, p. 513-515

    Research output: Contribution to journalLetter

  4. Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis by a homozygous deletion mutation in SDR9C7

    Takeichi, T., Nomura, T., Takama, H., Kono, M., Sugiura, K., Watanabe, D., Shimizu, H., Simpson, M. A., McGrath, J. A. & Akiyama, M., 23 Jan 2017, In : British Journal of Dermatology.

    Research output: Contribution to journalLetter

  5. 2016
  6. Hidradenitis suppurativa: Haploinsufficiency of gamma-secretase components does not affect gamma-secretase enzyme activity in vitro

    Pink, A. E., Dafou, D., Desai, N., Holmes, O., Hobbs, C., Smith, C. H., Mortimer, P., Simpson, M. A., Trembath, R. C. & Barker, J. N., 28 Jul 2016, In : British Journal of Dermatology.

    Research output: Contribution to journalLetter

  7. 2015
  8. Association between the COMT gene and neurological abnormalities and poorer executive function in psychosis

    Tosato, S., Ira, E., Russo, M., Iyegbe, C., Lasalvia, A., Di Forti, M., Morgan, K., Bonetto, C., Morgan, C., De Rossi, M., Nicolau, S., Chan, R. C. K., Reis Marques, T., Collier, D. A., Reichenberg, A., Murray, R. M., Tansella, M., Ruggeri, M. & Dazzan, P., 15 Dec 2015, In : Psychiatry Research. 230, 2, p. 742-743 2 p.

    Research output: Contribution to journalLetter

  9. Homozygous Missense Mutation in IL36RN in Generalized Pustular Dermatosis With Intraoral Involvement Compatible With Both AGEP and Generalized Pustular Psoriasis

    Navarini, A. A., Simpson, M. A., Borradori, L., Yawalkar, N. & Schlapbach, C., Apr 2015, In : JAMA dermatology. 151, 4, p. 452-453 3 p.

    Research output: Contribution to journalLetter

  10. 2014
  11. Genetic variation in schlafen genes in a patient with a recapitulation of the murine Elektra phenotype

    Recher, M., Karjalainen-Lindsberg, M-L., Lindlof, M., Soderlund-Venermo, M., Lanzi, G., Vaisanen, E., Kumar, A., Sadeghi, M., Berger, C. T., Alitalo, T., Anttila, P., Kolehmainen, M., Franssila, R., Chen, T., Siitonen, S., Delmonte, O. M., Walter, J. E., Pessach, I., Hess, C., Simpson, M. A. & 5 others, Navarini, A. A., Giliani, S., Hedman, K., Seppanen, M. & Notarangelo, L. D., May 2014, In : Journal of Allergy and Clinical Immunology. 133, 5, p. 1462-1465 4 p.

    Research output: Contribution to journalLetter

  12. The Missense Mutation p.R1303Q in Type XVII Collagen Underlies Junctional Epidermolysis Bullosa Resembling Kindler Syndrome

    Has, C., Kiritsi, D., Mellerio, J. E., Franzke, C-W., Wedgeworth, E., Tantcheva-Poor, I., Kernland-Lang, K., Itin, P., Simpson, M. A., Dopping-Hepenstal, P. J., Fujimoto, W., McGrath, J. A. & Bruckner-Tuderman, L., Mar 2014, In : Journal of Investigative Dermatology. 134, 3, p. 845-849 5 p., N/A.

    Research output: Contribution to journalLetter

  13. Generalized Pustular Eruptions: Time to Adapt the Disease Taxonomy to the Genetic Architecture?

    Navarini, A. A., Valeyrie-Allanore, L., Setta-Kaffetzi, N., Barker, J. N., Capon, F., Creamer, D., Roujeau, J-C., Sekula, P., Simpson, M. A., Trembath, R. C., Mockenhaupt, M. & Smith, C. H., Feb 2014, In : Journal of Investigative Dermatology. 134, 2, p. 580-581 2 p.

    Research output: Contribution to journalLetter

  14. 2013
  15. Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

    Samuelov, L., Sarig, O., Harmon, R. M., Rapaport, D., Ishida-Yamamoto, A., Isakov, O., Koetsier, J. L., Gat, A., Goldberg, I., Bergman, R., Spiegel, R., Eytan, O., Geller, S., Peleg, S., Shomron, N., Goh, C. S. M., Wilson, N. J., Smith, F. J. D., Pohler, E., Simpson, M. A. & 6 others, McLean, W. H. I., Irvine, A. D., Horowitz, M., McGrath, J. A., Green, K. J. & Sprecher, E., Oct 2013, In : Nature Genetics. 45, 10, p. 1244-1248 6 p., N/A.

    Research output: Contribution to journalLetter

  16. Rare Variations in IL36RN in Severe Adverse Drug Reactions Manifesting as Acute Generalized Exanthematous Pustulosis

    Navarini, A. A., Valeyrie-Allanore, L., Setta-Kaffetzi, N., Barker, J. N., Capon, F., Creamer, D., Roujeau, J-C., Sekula, P., Simpson, M. A., Trembath, R. C., Mockenhaupt, M. & Smith, C. H., Jul 2013, In : Journal of Investigative Dermatology. 133, 7, p. 1904-1907 4 p.

    Research output: Contribution to journalLetter

  17. Negligible impact of rare autoimmune-locus coding-region variants on missing heritability

    Hunt, K. A., Mistry, V., Bockett, N. A., Ahmad, T., Ban, M., Barker, J. N., Barrett, J. C., Blackburn, H., Brand, O., Burren, O., Capon, F., Compston, A., Gough, S. C. L., Jostins, L., Kong, Y., Lee, J. C., Lek, M., MacArthur, D. G., Mansfield, J. C., Mathew, C. G. & 17 others, Mein, C. A., Mirza, M., Nutland, S., Onengut-Gumuscu, S., Papouli, E., Parkes, M., Rich, S. S., Sawcer, S., Satsangi, J., Simmonds, M. J., Trembath, R. C., Walker, N. M., Wozniak, E., Todd, J. A., Simpson, M. A., Plagnol, V. & van Heel, D. A., 13 Jun 2013, In : NATURE. 498, 7453, p. 232-235 4 p.

    Research output: Contribution to journalLetter

  18. Rare Pathogenic Variants in IL36RN Underlie a Spectrum of Psoriasis-Associated Pustular Phenotypes

    Setta-Kaffetzi, N., Navarini, A. A., Patel, V. M., Pullabhatla, V., Pink, A., Choon, S-E., Allen, M. A., Burden, A. D., Griffiths, C. E. M., Seyger, M. M. B., Kirby, B., Trembath, R. C., Simpson, M. A., Smith, C. H., Capon, F. & Barker, J. N., 10 Jan 2013, In : Journal of Investigative Dermatology. 133, 5, p. 1366-1369 4 p.

    Research output: Contribution to journalLetter

  19. 2012
  20. Mutations in the gamma-Secretase Genes NCSTN, PSENEN, and PSEN1 Underlie Rare Forms of Hidradenitis Suppurativa (Acne Inversa)

    Pink, A. E., Simpson, M. A., Desai, N., Dafou, D., Hills, A., Mortimer, P. S., Smith, C. H., Trembath, R. C. & Barker, J. N. W., Oct 2012, In : Journal of Investigative Dermatology. 132, 10, p. 2459-2461 3 p.

    Research output: Contribution to journalLetter

  21. Therapygenetics: the 5HTTLPR and response to psychological therapy

    Eley, T. C., Hudson, J. L., Creswell, C., Tropeano, M., Lester, K. J., Cooper, P., Farmer, A., Lewis, C. M., Lyneham, H. J., Rapee, R. M., Uher, R., Zavos, H. M. S. & Collier, D. A., Mar 2012, In : Molecular Psychiatry. 17, 3, p. 236 - 237 2 p.

    Research output: Contribution to journalLetter

  22. 2011
  23. The impact of the CACNA1C gene polymorphism on frontolimbic function in bipolar disorder

    Jogia, J., Ruberto, G., Lelli-Chiesa, G., Vassos, E., Maieru, M., Tatarelli, R., Girardi, P., Collier, D. & Frangou, S., Nov 2011, In : Molecular Psychiatry. 16, 11, p. 1070-1071 2 p.

    Research output: Contribution to journalLetter

  24. PSENEN and NCSTN mutations in familial hidradenitis suppurativa (Acne Inversa)

    Pink, A. E., Simpson, M. A., Brice, G. W., Smith, C. H., Desai, N., Mortimer, P. S., Barker, J. N. W. N. & Trembath, R. C., Jul 2011, In : Journal of Investigative Dermatology. 131, 7, p. 1568-70 3 p.

    Research output: Contribution to journalLetter

  25. Gene-environment interaction in anorexia nervosa: relevance of non-shared environment and the serotonin transporter gene

    Karwautz, A. F. K., Wagner, G., Waldherr, K., Nader, I. W., Fernandez-Aranda, F., Estivill, X., Holliday, J., Collier, D. A. & Treasure, J. L., Jun 2011, In : Molecular Psychiatry. 16, 6, p. 590 - 592 3 p.

    Research output: Contribution to journalLetter

  26. Genome-Wide Association Study of Hoarding Traits

    Perroud, N., Guipponi, M., Pertusa, A., Fullana, M. A., Iervolino, A. C., Cherkas, L., Spector, T., Collier, D. & Mataix-Cols, D., Mar 2011, In : American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics. 156B, 2, p. 240 - 242 3 p.

    Research output: Contribution to journalLetter

  27. Replication of association of 3p21.1 with susceptibility to bipolar disorder but not major depression

    Breen, G., Lewis, C. M., Vassos, E., Pergadia, M. L., Blackwood, D. H. R., Boomsma, D. I., Penninx, B., Sullivan, P. F., Pedroso, I., Collier, D. & McGuffin, P., Jan 2011, In : Nature Genetics. 43, 1, p. 3 - 5 3 p.

    Research output: Contribution to journalLetter

  28. 2009
  29. Effects of the CACNA1C risk allele for bipolar disorder on cerebral gray matter volume in healthy individuals

    Kempton, M. J., Ruberto, G., Vassos, E., Tatarelli, R., Girardi, P., Collier, D. & Frangou, S., 1 Dec 2009, In : The American Journal of Psychiatry. 166, 12, p. 1413-1414 2 p., N/A.

    Research output: Contribution to journalLetter

  30. 2008
  31. The functional MMP-9 microsatellite marker is not associated with episodic memory in humans

    Vassos, E., Ma, X., Fiotti, N., Wang, D., Sham, P. C., Liu, X., Wang, Y., Yan, C., Meng, H., Deng, W., Collier, D. A. & Li, T., Oct 2008, In : Psychiatric Genetics. 18, 5, p. 252 - 252 1 p., N/A.

    Research output: Contribution to journalLetter

  32. 2007
  33. No association between a promoter polymorphism in the noradrenaline transporter gene and anorexia nervosa

    Hu, X., Karwautz, A., Wagner, G., Holliday, J., Li, T., Treasure, J. & Collier, D. A., Aug 2007, In : Psychiatric Genetics. 17, 4, p. 247 - 248 2 p.

    Research output: Contribution to journalLetter

  34. 2004
  35. No association between polymorphisms of methylenetetrahydrofolate reductase gene and schizophrenia in both Chinese and Scottish populations

    Yu, L., Li, T., Robertson, Z., Dean, J., Gu, N. F., Feng, G. Y., Yates, P., Sinclair, M., Crombie, C., Collier, D. A., Walker, N., He, L. & St Clair, D., Dec 2004, In : Molecular Psychiatry. 9, 12, p. 1063 - 1065 3 p.

    Research output: Contribution to journalLetter

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