Search results

• 2023

  Genetic validation of psoriasis phenotyping in UK Biobank supports the utility of self-reported data and composite definitions for large genetic and epidemiological studies

  Saklatvala, J. R., Hanscombe, K. B., Mahil, S. K., Tsoi, L. C., Elder, J. T., Barker, J. N., Simpson, M. A., Smith, C. H. & Dand, N., Aug 2023, In: Journal of Investigative Dermatology. 143, 8, p. 1598-1601.e10

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File
  1 Citation (Scopus)

  4 Downloads (Pure)
• 2022

  Damaging alleles affecting multiple CARD14 domains are associated with palmoplantar pustulosis

  Niaouris, T., Hernandez Cordero, A., Haddad, S., Hassi, K., Benzian Olsson, N., Bugarin Diz, C., Burden, A. D., Cooper, H., Griffiths, C. E., Parslew, R., Pink, A. E., Reynolds, N. J., Wahie, S., Warren, R. B., Wright, A., Simpson, M., Baum, P., Visvanathan, S., Barker, J. N., Smith, C. H., & 1 othersCapon, F., 26 Sept 2022, (Accepted/In press) In: Journal of Investigative Dermatology.

  Research output: Contribution to journal › Letter › peer-review
• 2019

  Consanguinity and Double Recessive Gene Pathology: Cutis Laxa (PYCR1) and Nephrotic Syndrome (PLCE1)

  Onoufriadis, A., Nanda, A., Sheriff, A., Tomita, K., Gomaa, N. S., Simpson, M. A. & McGrath, J. A., 1 Feb 2019, In: JAMA dermatology. 155, 2, p. 257-259 3 p.

  Research output: Contribution to journal › Letter › peer-review
  4 Citations (Scopus)

• Novel ADA2 mutation presenting with neutropenia, lymphopenia and bone marrow failure in patients with deficiency in adenosine deaminase 2 (DADA2)

  Ghurye, R. R., Sundaram, K., Smith, F., Clark, B., Simpson, M. A., Fairbanks, L., Adhya, Z., Mufti, G. J., Marsh, J. C. W. & Ibrahim, M. A. A., 1 Aug 2019, In: British Journal of Haematology. 186, 3, p. e60-e64

  Research output: Contribution to journal › Letter › peer-review
  12 Citations (Scopus)

• Semidominant GPNMB Mutations in Amyloidosis Cutis Dyschromica

  Onoufriadis, A., Hsu, C. K., Eide, C. R., Nanda, A., Orchard, G. E., Tomita, K., Sheriff, A., Scott, W., Tierney, C., Lee, J. Y. W., Gomaa, N. S., Desomchoke, R., Lwin, S. M., Tu, W. T., Chen, L. Y., Huang, H. Y., Chao, S. C., Yu-Yun Lee, J., Bare, Y., Hayday, T., & 12 othersGuy, A. L., Liu, L., Lees, C., Hirdler, T., Lovell, P., Xia, L., Dayrit, J. F., Calonje, E., Simpson, M. A., Tolar, J., Parsons, M. & McGrath, J. A., 1 Dec 2019, In: Journal of Investigative Dermatology. 139, 12, p. 2550-2554.e9

  Research output: Contribution to journal › Letter › peer-review
  10 Citations (Scopus)
• 2018

  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. BY., 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 othersO’Toole, E. A., Simpson, M. A. & Kelsell, D. P., Dec 2018, In: Journal of Investigative Dermatology. 138, 12, p. 2674-2677

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File
  29 Citations (Scopus)

  53 Downloads (Pure)

• Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility

  Lee, J. Y. W., Farag, A., Tawdy, A., Liu, L., Michael, M., Rashidghamat, E., Aristodemou, S., Hsu, C. K., Simpson, M. A., Parsons, M. & McGrath, J. A., Feb 2018, In: Journal of Dermatological Science. 89, 2, p. 198-201

  Research output: Contribution to journal › Letter › peer-review
  7 Citations (Scopus)

• Mutation in GNE is associated with severe congenital thrombocytopenia

  behalf of the UK GAPP Study Group, 25 Oct 2018, In: Blood. 132, 17, p. 1855-1858 4 p.

  Research output: Contribution to journal › Letter › peer-review
  41 Citations (Scopus)
• 2017

  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 journal › Letter › peer-review

  Open Access

  File
  4 Citations (Scopus)

  341 Downloads (Pure)

• 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, (E-pub ahead of print) In: British Journal of Dermatology.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File
  19 Citations (Scopus)

  417 Downloads (Pure)

• 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, (E-pub ahead of print) In: Journal of Investigative Dermatology. 137, 11, p. 2440-2443

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File
  7 Citations (Scopus)

  227 Downloads (Pure)
• 2016

  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, (E-pub ahead of print) In: British Journal of Dermatology.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File
  12 Citations (Scopus)

  217 Downloads (Pure)
• 2015

  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 journal › Letter › peer-review
  41 Citations (Scopus)
• 2014

  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 journal › Letter › peer-review
  5 Citations (Scopus)

• 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 othersNavarini, 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 journal › Letter › peer-review
  5 Citations (Scopus)

• 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 journal › Letter › peer-review
  22 Citations (Scopus)
• 2013

  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 othersMcLean, 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 journal › Letter › peer-review

  • Mutation 100%
  • Desmoglein-1 100%
  • Nested Gene 50%
  • Membrane 50%
  • Cytoskeleton 50%
  244 Citations (Scopus)

• 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 othersMein, 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 journal › Letter › peer-review

  • Heritability 100%
  • Coding Region 100%
  • Autoimmune Disease 100%
  • Missing Heritability 100%
  • Nested Gene 60%
  158 Citations (Scopus)

• 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, (E-pub ahead of print) In: Journal of Investigative Dermatology. 133, 5, p. 1366-1369 4 p.

  Research output: Contribution to journal › Letter › peer-review
  140 Citations (Scopus)

• 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 journal › Letter › peer-review
  103 Citations (Scopus)
• 2012

  Identification of Rare, Disease-Associated Variants in the Promoter Region of the RNF114 Psoriasis Susceptibility Gene

  Onoufriadis, A., Simpson, M. A., Burden, A. D., Barker, J. N., Trembath, R. & Capon, F., Apr 2012, In: Journal of Investigative Dermatology. 132, 4, p. 1297 - 1299 3 p.

  Research output: Contribution to journal › Letter › peer-review
  9 Citations (Scopus)

• 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 journal › Letter › peer-review
  120 Citations (Scopus)
• 2011

  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 journal › Letter › peer-review
  94 Citations (Scopus)