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Research Outputs

  1. 2021
  2. SERPINA1, generalized pustular psoriasis, and adult-onset immunodeficiency

    Kantaputra, P., Chaowattanapanit, S., Kiratikanon, S., Chaiwarith, R., Choonhakarn, C., Intachai, W., Quarto, N., Tongsima, S., Ketudat Cairns, J. R., Ngamphiw, C., McGrath, J. A. & Chuamanochan, M., Oct 2021, In: Journal of Dermatology. 48, 10, p. 1597-1601 5 p.

    Research output: Contribution to journalArticlepeer-review

  3. Metabolic perturbations in fibrosis disease

    Ung, C. Y., Onoufriadis, A., Parsons, M., McGrath, J. & Shaw, T., 25 Aug 2021, (Accepted/In press) In: International Journal of Biochemistry and Cell Biology.

    Research output: Contribution to journalReview articlepeer-review

  4. Spatial activation of ezrin by epidermal growth factor receptor and focal adhesion kinase co-ordinates epithelial cell migration

    Chan, G. K., McGrath, J. & Parsons, M., 11 Aug 2021, In: Open Biology. 11, 8, p. 210166 1 p., 210166.

    Research output: Contribution to journalArticlepeer-review

  5. A truncating variant in SERPINA3, skin pustules and adult-onset immunodeficiency

    Kantaputra, P. N., Chuamanochan, M., Kiratikanon, S., Chiewchanvit, S., Chaiwarith, R., Intachai, W., Quarto, N., Tongsima, S., McGrath, J. A. & Ngamphiw, C., Aug 2021, In: Journal of Dermatology. 48, 8, p. e370-e371

    Research output: Contribution to journalLetterpeer-review

  6. Induced pluripotent stem cell (iPSC) line MLi-004A derived from a patient with recessive dystrophic epidermolysis bullosa (RDEB)

    Ropret, S., Jeriha, J., Sorčan, T., Rogar, M., Zemljič Jokhadar, Š., McGrath, J. A., Ilic, D. & Liovic, M., Aug 2021, In: Stem Cell Research. 55, 102463.

    Research output: Contribution to journalArticlepeer-review

  7. Synergistic multiple early therapy (SMET) for inflammatory diseases with pathogenic autoinflammatory feedback circuits

    McFadden, J. P., Cunningham, L. S., Ferguson, F. J., Tziotzios, C. & McGrath, J. A., Aug 2021, In: British Journal of Dermatology. 185, 2, p. 469-470 2 p.

    Research output: Contribution to journalLetterpeer-review

  8. Structure and function of skin, hair and nails

    Lai-Cheong, J. E. & McGrath, J. A., Jun 2021, In: Medicine (United Kingdom). 49, 6, p. 337-342 6 p.

    Research output: Contribution to journalReview articlepeer-review

  9. Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation

    Vahidnezhad, H., Youssefian, L., Saeidian, A. H., Boyden, L. M., Touati, A., Harvey, N., Naji, M., Zabihi, M., Barzegar, M., Sotoudeh, S., Liu, L., Guy, A., Kariminejad, A., Zeinali, S., Choate, K. A., McGrath, J. A. & Uitto, J., May 2021, In: Matrix Biology. 99, p. 43-57 15 p.

    Research output: Contribution to journalArticlepeer-review

  10. A de novo COL17A1 splice-site mutation causing a 7-bp deletion in a Taiwanese patient with junctional epidermolysis bullosa

    Hou, P. C., Tu, W. T., Chen, P. C., Guevara, B. E. K., Yen, Y. F., Huang, H. Y., Lee, J. Y. Y., Tang, M. J., Kuo, P. L., Mcgrath, J. A. & Hsu, C. K., 1 Apr 2021, In: European journal of dermatology : EJD. 31, 2, p. 267-269 3 p.

    Research output: Contribution to journalLetterpeer-review

  11. Nanomedicine Approaches to Negotiate Local Biobarriers for Topical Drug Delivery

    Mustfa, S. A., Maurizi, E., McGrath, J. & Chiappini, C., Jan 2021, In: Advanced Therapeutics. 4, 1, 2000160.

    Research output: Contribution to journalReview articlepeer-review

  12. Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry

    Warshauer, E. M., Brown, A., Fuentes, I., Shortt, J., Gignoux, C., Montinaro, F., Metspalu, M., Youssefian, L., Vahidnezhad, H., Jacków, J., Christiano, A. M., Uitto, J., Fajardo-Ramírez, Ó. R., Salas-Alanis, J. C., McGrath, J. A., Consuegra, L., Rivera, C., Maier, P. A., Runfeldt, G., Behar, D. M. & 8 others, Skorecki, K., Sprecher, E., Palisson, F., Norris, D. A., Bruckner, A. L., Kogut, I., Bilousova, G. & Roop, D. R., 2021, (Accepted/In press) In: American Journal of Medical Genetics, Part A.

    Research output: Contribution to journalArticlepeer-review

  13. Investigational Treatments for Epidermolysis Bullosa

    Hou, P. C., Wang, H. T., Abhee, S., Tu, W. T., McGrath, J. A. & Hsu, C. K., 2021, (Accepted/In press) In: American Journal of Clinical Dermatology.

    Research output: Contribution to journalReview articlepeer-review

  14. The natural history of laryngo-onycho-cutaneous syndrome: A case series of six pediatric patients and literature review

    Prodinger, C., Chottianchaiwat, S., Mellerio, J. E., McGrath, J. A., Ozoemena, L., Liu, L., Moore, W., Laimer, M., Petrof, G. & Martinez, A. E., 2021, (Accepted/In press) In: Pediatric Dermatology.

    Research output: Contribution to journalArticlepeer-review

  15. Transcriptomic Analysis of Blaschko-Linear Psoriasis Reveals Shared and Distinct Features with Psoriasis Vulgaris

    Onoufriadis, A., Niazi, U., Dimitrakopoulou, K., Reich, J., Ainali, C., Papanikolaou, M., Kesidou, E., Hsu, C. K., Saqi, M., McGrath, J. A. & Reich, K., 2021, (Accepted/In press) In: Journal of Investigative Dermatology.

    Research output: Contribution to journalArticlepeer-review

  16. WNT10A, dermatology and dentistry

    Doolan, B. J., Onoufriadis, A., Kantaputra, P. & McGrath, J. A., 2021, (Accepted/In press) In: British Journal of Dermatology.

    Research output: Contribution to journalReview articlepeer-review

  17. 2020
  18. PLACK syndrome: the penny dropped

    O'Sullivan, S., Ozoemena, L., Liu, L., McGrath, J. A., Mellerio, J. E. & Martinez, A. E., 1 Dec 2020, In: Clinical and Experimental Dermatology. 45, 8, p. 1091-1092 2 p.

    Research output: Contribution to journalArticlepeer-review

  19. Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility

    Vahidnezhad, H., Youssefian, L., Faghankhani, M., Mozafari, N., Saeidian, A. H., Niaziorimi, F., Abdollahimajd, F., Sotoudeh, S., Rajabi, F., Mirsafaei, L., Sani, Z. A., Liu, L., Guy, A., Zeinali, S., Kariminejad, A., Ho, R. T., McGrath, J. A. & Uitto, J., Dec 2020, In: Scientific Reports. 10, 1, 21622.

    Research output: Contribution to journalArticlepeer-review

  20. Frontal fibrosing alopecia: a descriptive cross-sectional study of 711 cases in female patients from the UK

    McSweeney, S. M., Christou, E. A. A., Dand, N., Boalch, A., Holmes, S., Harries, M., Palamaras, I., Cunningham, F., Parkins, G., Kaur, M., Farrant, P., McDonagh, A., Messenger, A., Jones, J., Jolliffe, V., Ali, I., Ardern-Jones, M., Mitchell, C., Burrows, N., Atkar, R. & 25 others, Banfield, C., Alexandroff, A., Champagne, C., Cooper, H. L., Patel, G. K., Macbeth, A., Page, M., Bryden, A., Mowbray, M., Wahie, S., Armstrong, K., Cooke, N., Goodfield, M., Man, I., de Berker, D., Dunnil, G., Takwale, A., Rao, A., Siah, T. W., Sinclair, R., Wade, M. S., Bhargava, K., Fenton, D. A., McGrath, J. A. & Tziotzios, C., Dec 2020, In: British Journal of Dermatology. 183, 6, p. 1136-1138 3 p.

    Research output: Contribution to journalLetterpeer-review

  21. Blaschko-linear lichen planus: Clinicopathological and genetic analysis

    Chuamanochan, M., Onoufriadis, A., Farnood, S., Hsu, C. K., Simpson, M. A., Mahanupab, P., Tovanabutra, N., Chiewchanvit, S. & McGrath, J. A., 1 Nov 2020, In: Journal of Dermatology. 47, p. e384-e385

    Research output: Contribution to journalLetterpeer-review

  22. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility

    Has, C., Bauer, J. W., Bodemer, C., Bolling, M. C., Bruckner-Tuderman, L., Diem, A., Fine, J. D., Heagerty, A., Hovnanian, A., Marinkovich, M. P., Martinez, A. E., McGrath, J. A., Moss, C., Murrell, D. F., Palisson, F., Schwieger-Briel, A., Sprecher, E., Tamai, K., Uitto, J., Woodley, D. T. & 2 others, Zambruno, G. & Mellerio, J. E., 1 Oct 2020, In: British Journal of Dermatology. 183, 4, p. 614-627 14 p.

    Research output: Contribution to journalReview articlepeer-review

  23. ESDR and the European Dermatology Forum: ESDR's Baby Big Brother

    Pincelli, C. & McGrath, J. A., Sep 2020, In: Journal of Investigative Dermatology. 140, 9, p. S181-S182

    Research output: Contribution to journalComment/debatepeer-review

  24. Genetic analysis in three Egyptian patients with Griscelli syndrome Type 1 reveals new nonsense mutations in MYO5A

    Abd Elmaksoud, M. S., Gomaa, N. S., Azouz, H. G., On, C. N. V., Ho, C. T., Omar, T. E., McGrath, J. A. & Onoufriadis, A., 1 Aug 2020, In: Clinical and Experimental Dermatology. 45, 6, p. 789-792 4 p.

    Research output: Contribution to journalComment/debatepeer-review

  25. Novel p.Ala675Thr missense mutation in TRPV3 in Olmsted syndrome

    Chiu, F. P. C., Salas-Alanis, J. C., Amaya-Guerra, M., Cepeda-Valdes, R., McGrath, J. A. & Hsu, C. K., 1 Aug 2020, In: Clinical and Experimental Dermatology. 45, 6, p. 796-798 3 p.

    Research output: Contribution to journalComment/debatepeer-review

  26. Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis

    Mohamad, J., Nanda, A., Pavlovsky, M., Peled, A., Malchin, N., Malovitski, K., Pramanik, R., Weissglas-Volkov, D., Shomron, N., McGrath, J., Sprecher, E. & Sarig, O., 1 Aug 2020, In: Experimental Dermatology. 29, 8, p. 742-748 7 p.

    Research output: Contribution to journalArticlepeer-review

  27. Plectin missense mutation p.Leu319pro in the pathogenesis of autosomal recessive epidermolysis bullosa simplex

    Tu, W. T., Chen, P. C., Hou, P. C., Huang, H. Y., Wang, J. Y., Chao, S. C., Lee, J. Y. Y., McGrath, J. A., Natsuga, K. & Hsu, C. K., Aug 2020, In: Acta Dermato-Venereologica. 100, 15, p. 1-2 2 p., adv00242.

    Research output: Contribution to journalArticlepeer-review

  28. Autosomal recessive mutations in plakoglobin and risk of cardiac abnormalities

    Oktem, A., Doolan, B. J., Akay, B. N., Onoufriadis, A., Okcu Heper, A., Kocak, O., Ersoy-Evans, S. & McGrath, J. A., 1 Jul 2020, In: Clinical and Experimental Dermatology. 45, 5, p. 654-657 4 p.

    Research output: Contribution to journalArticlepeer-review

  29. Molecular basis and inheritance patterns of amyloidosis cutis dyschromica

    Chiu, F. P. C., Wessagowit, V., Cakmak, M. F., Doolan, B. J., Kootiratrakarn, T., Chaowalit, P., Bunnag, T., Simpson, M. A., McGrath, J. A. & Onoufriadis, A., 1 Jul 2020, In: Clinical and Experimental Dermatology. 45, 5, p. 650-653 4 p.

    Research output: Contribution to journalArticlepeer-review

  30. Ectodermal dysplasia-skin fragility syndrome: Two new cases and review of this desmosomal genodermatosis

    Doolan, B. J., Gomaa, N. S., Fawzy, M. M., Dogheim, N. N., Liu, L., Mellerio, J. E., Onoufriadis, A. & McGrath, J. A., 1 Jun 2020, In: Experimental Dermatology. 29, 6, p. 520-530 11 p.

    Research output: Contribution to journalArticlepeer-review

  31. Genomics-based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica

    Vahidnezhad, H., Youssefian, L., Sotoudeh, S., Liu, L., Guy, A., Lovell, P. A., Kariminejad, A., Zeinali, S., McGrath, J. A. & Uitto, J., 1 May 2020, In: Human Mutation. 41, 5, p. 906-912 7 p.

    Research output: Contribution to journalArticlepeer-review

  32. A novel mutation in ITGB4 gene in a newborn with epidermolysis bullosa, pyloric atresia, and aplasia cutis congenita

    Okulu, E., Durmaz, C. D., Tunc, G., Guzel, A., Kutlay, N. Y., Erdeve, O., Atasay, B., McGrath, J. A., Liu, L. & Arsan, S., 1 Apr 2020, In: Egyptian Journal of Medical Human Genetics. 21, 16.

    Research output: Contribution to journalArticlepeer-review

  33. Detailed hair shaft analysis in a man with delayed-onset Chediak-Higashi syndrome

    Veraitch, O., Allison, L., Vizcay-Barrena, G., Fleck, R. A., Price, A., Fenton, D. A., McGrath, J. A. & Stefanato, C. M., 1 Jan 2020, In: British Journal of Dermatology. 182, 1, p. 223-225 3 p.

    Research output: Contribution to journalLetterpeer-review

  34. Human Mesenchymal Stromal Cells Engineered to Express Collagen VII Can Restore Anchoring Fibrils in Recessive Dystrophic Epidermolysis Bullosa Skin Graft Chimeras

    Petrova, A., Georgiadis, C., Fleck, R. A., Allison, L., McGrath, J. A., Dazzi, F., Di, W. L. & Qasim, W., 1 Jan 2020, In: Journal of Investigative Dermatology. 140, 1, p. 121-131.e6

    Research output: Contribution to journalArticlepeer-review

  35. Mutations in genes encoding desmosomal proteins: spectrum of cutaneous and extracutaneous abnormalities

    Lee, J. Y. W. & McGrath, J. A., 1 Jan 2020, (Accepted/In press) In: British Journal of Dermatology.

    Research output: Contribution to journalReview articlepeer-review

  36. Recurrent KRT10 variant in ichthyosis with confetti

    Takeichi, T., Suga, Y., Mizuno, T., Okuno, Y., Ichikawa, D., Kono, M., Lee, J. Y. W., McGrath, J. A. & Akiyama, M., 1 Jan 2020, In: Acta Dermato-Venereologica. 100, 14, p. 1-2 2 p.

    Research output: Contribution to journalComment/debatepeer-review

  37. A decade of next-generation sequencing in genodermatoses: the impact on gene discovery and clinical diagnostics

    Chiu, F. P. C., Doolan, B. J., McGrath, J. A. & Onoufriadis, A., 2020, (Accepted/In press) In: British Journal of Dermatology.

    Research output: Contribution to journalArticlepeer-review

  38. A germline mutation in the platelet-derived growth factor receptor beta gene may be implicated in hereditary progressive mucinous histiocytosis

    Onoufriadis, A., Boulouadnine, B., Dachy, G., Higashino, T., Huang, H. Y., Hsu, C. K., Simpson, M. A., Bork, K., Demoulin, J. B. & McGrath, J. A., 2020, (Accepted/In press) In: British Journal of Dermatology.

    Research output: Contribution to journalLetterpeer-review

  39. Autosomal recessive hypotrichosis with loose anagen hairs associated with TKFC mutations

    Onoufriadis, A., Cabezas, A., Ng, J. C. F., Canales, J., Costas, M. J., Ribeiro, J. M., Rodrigues, J. R., McAleer, M. A., Castelo-Soccio, L., Simpson, M. A., Fraternali, F., Irvine, A. D., Cameselle, J. C. & McGrath, J. A., 2020, (Accepted/In press) In: British Journal of Dermatology.

    Research output: Contribution to journalArticlepeer-review

  40. Heterogeneous addiction to transforming growth factor-beta signalling in recessive dystrophic epidermolysis bullosa-associated cutaneous squamous cell carcinoma

    Dayal, J. H. S., Mason, S. M., Salas-Alanis, J. C., McGrath, J. A., Taylor, R. G., Mellerio, J. E., Blyth, K., South, A. P. & Inman, G. J., 2020, (Accepted/In press) In: British Journal of Dermatology.

    Research output: Contribution to journalArticlepeer-review

  41. Immune tolerance of allogeneic haematopoietic cell transplantation supports donor epidermal grafting of recessive dystrophic epidermolysis bullosa chronic wounds

    Ebens, C. L., McGrath, J. A., Riedl, J. A., Keith, A. R., Lilja, G., Rusch, S., Keene, D. R., Tufa, S. F., Riddle, M. J., Shanley, R., Van Heest, A. E. & Tolar, J., 2020, (Accepted/In press) In: British Journal of Dermatology.

    Research output: Contribution to journalArticlepeer-review

  42. New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis

    Kalay Yildizhan, I., Gökplnar İli, E., Onoufriadis, A., Kocyigit, P., Kesidou, E., Simpson, M. A., McGrath, J. A., Kutlay, N. Y. & Kundakci, N., 2020, (Accepted/In press) In: CYTOGENETIC AND GENOME RESEARCH.

    Research output: Contribution to journalArticlepeer-review

  43. Prevalence, pathophysiology and management of itch in epidermolysis bullosa

    Papanikolaou, M., Onoufriadis, A., Mellerio, J. E., Nattkemper, L. A., Yosipovitch, G., Steinhoff, M. & McGrath, J. A., 2020, (Accepted/In press) In: British Journal of Dermatology.

    Research output: Contribution to journalReview articlepeer-review

  44. 2019
  45. Bone marrow transplant with post-transplant cyclophosphamide for recessive dystrophic epidermolysis bullosa expands the related donor pool and permits tolerance of nonhaematopoietic cellular grafts

    Ebens, C. L., McGrath, J. A., Tamai, K., Hovnanian, A., Wagner, J. E., Riddle, M. J., Keene, D. R., DeFor, T. E., Tryon, R., Chen, M., Woodley, D. T., Hook, K. & Tolar, J., 1 Dec 2019, In: British Journal of Dermatology. 181, 6, p. 1238-1246 9 p.

    Research output: Contribution to journalArticlepeer-review

  46. PADI3, hair disorders and genomic investigation

    McGrath, J. A., Ohyama, M. & Simpson, M. A., 1 Dec 2019, In: British Journal of Dermatology. 181, 6, p. 1115-1116 2 p.

    Research output: Contribution to journalEditorialpeer-review

  47. Revertant mosaic fibroblasts in recessive dystrophic epidermolysis bullosa

    Twaroski, K., Eide, C., Riddle, M. J., Xia, L., Lees, C. J., Chen, W., Mathews, W., Keene, D. R., McGrath, J. A. & Tolar, J., 1 Dec 2019, In: British Journal of Dermatology. 181, 6, p. 1247-1253 7 p.

    Research output: Contribution to journalArticlepeer-review

  48. 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 others, Guy, 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 journalLetterpeer-review

  49. Genetics of scars and keloids

    Hsu, C. K., Yang, H. S. & McGrath, J. A., 29 Nov 2019, Total Scar Management: From Lasers to Surgery for Scars, Keloids, and Scar Contractures. Springer Singapore, p. 47-53 7 p.

    Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

  50. Phase I/II open-label trial of intravenous allogeneic mesenchymal stromal cell therapy in adults with recessive dystrophic epidermolysis bullosa

    Rashidghamat, E., Kadiyirire, T., Ayis, S., Petrof, G., Liu, L., Pullabhatla, V., Ainali, C., Guy, A., Aristodemou, S., McMillan, J. R., Ozoemena, L., Mee, J., Pramanik, R., Saxena, A., Nuamah, R., de Rinaldis, E., Serrano, S., Maurin, C., Martinez-Queipo, M., Lwin, S. & 10 others, Ilic, D., Martinez, A. E., Dazzi, F., Slaper-Cortenbach, I., Westinga, K., Zeddies, S., van den Broek, M., Onoufriadis, A., Mellerio, J. & McGrath, J. A., 28 Nov 2019, In: Journal of the American Academy of Dermatology.

    Research output: Contribution to journalArticlepeer-review

  51. Sneddon Syndrome associated with two novel ADA2 gene mutations

    Tull, T. J., Martin, B., Spencer, J. M., Sangle, S., Chua, S., McGrath, J. A., D'Cruz, D. & McGibbon, D. H., 29 Oct 2019, (Accepted/In press) In: Rheumatology.

    Research output: Contribution to journalArticlepeer-review

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