Thomas Jefferson University

John Mcgrath

TitleVolunteer Faculty
InstitutionThomas Jefferson University
DepartmentFaculty Records and Publicatio - Thomas Jefferson University
Address833 Chestnut Street
Philadelphia PA 19107
Phone215-465-8800
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Mellerio JE, Pillay EI, Sollesta K, Thiel KE, Zimmerman G, McGrath JA, Martinez AE, Jeffs E. Milestone events in recessive dystrophic epidermolysis bullosa: findings of the PEBLES study. Clin Exp Dermatol. 2025 May 23; 50(6):1125-1131. PMID: 39874247.
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    2. McGrath JA. Press play for impact: enhancing BJD article appeal through video. Br J Dermatol. 2025 Apr 28; 192(5):785-786. PMID: 39907363.
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    3. Rayinda T, Dand N, McSweeney SM, Christou E, Ung CY, Stefanato CM, Fenton DA, Harries M, Palamaras I, Tidman A, Holmes S, Koutalopoulou A, Ardern-Jones M, Kaur M, Papanikou S, Chasapi V, Va??-Galvan S, Saceda-Corralo D, Meli?n-Olivera A, Azcarraga-Llobet C, Lobato-Berezo A, Bustamante M, Sunyer J, Starace MVR, Piraccini BM, Wiss IP, Senna MM, Singh R, Hillmann K, Kanti-Schmidt V, Blume-Peytavi U, McGrath JA, Simpson MA, Tziotzios C. Epistasis of ERAP1 With 4 Major Histocompatibility Complex Class I Alleles in Frontal Fibrosing Alopecia: A Genome-Wide Association Study Meta-Analysis. JAMA Dermatol. 2025 03 01; 161(3):310-314. PMID: 39937552.
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    4. McGrath JA. Recently discovered roles for macrophages in human skin development. Br J Dermatol. 2025 Feb 18; 192(3):371-372. PMID: 39656653.
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    5. McGrath JA, Lu KQ. Single high-dose vitamin D3: a promising sunburn therapy. Br J Dermatol. 2025 Jan 24; 192(2):181-182. PMID: 39270729.
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    6. Dand N, Ung CY, Saklatvala JR, Simpson MA, Barker JN, Shaw TJ, McGrath JA, Onoufriadis A. GWAS Meta-Analysis Identifies Susceptibility Loci for Keloids and Hypertrophic Scarring in Europeans. J Invest Dermatol. 2025 Jun; 145(6):1538-1540.e8. PMID: 39746571.
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    7. McGrath JA, Hsu CK. Inflammatory dermatoses and an era of new diagnostic dermatopathology. Br J Dermatol. 2024 Nov 18; 191(6):855-856. PMID: 39066646.
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    8. Gopee NH, Winheim E, Olabi B, Admane C, Foster AR, Huang N, Botting RA, Torabi F, Sumanaweera D, Le AP, Kim J, Verger L, Stephenson E, Ad?o D, Ganier C, Gim KY, Serdy SA, Deakin C, Goh I, Steele L, Annusver K, Miah MU, Tun WM, Moghimi P, Kwakwa KA, Li T, Basurto Lozada D, Rumney B, Tudor CL, Roberts K, Chipampe NJ, Sidhpura K, Englebert J, Jardine L, Reynolds G, Rose A, Rowe V, Pritchard S, Mulas I, Fletcher J, Popescu DM, Poyner E, Dubois A, Guy A, Filby A, Lisgo S, Barker RA, Glass IA, Park JE, Vento-Tormo R, Nikolova MT, He P, Lawrence JEG, Moore J, Ballereau S, Hale CB, Shanmugiah V, Horsfall D, Rajan N, McGrath JA, O'Toole EA, Treutlein B, Bayraktar O, Kasper M, Progatzky F, Mazin P, Lee J, Gambardella L, Koehler KR, Teichmann SA, Haniffa M. A prenatal skin atlas reveals immune regulation of human skin morphogenesis. Nature. 2024 11; 635(8039):679-689. PMID: 39415002.
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    9. Jeffs E, Pillay EI, Ledwaba-Chapman L, Bisquera A, Robertson SJ, McGrath JA, Wang Y, Martinez AE, Mellerio JE. Pain in recessive dystrophic epidermolysis bullosa (RDEB): findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study (PEBLES). Orphanet J Rare Dis. 2024 10 11; 19(1):375. PMID: 39394129.
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    10. McGrath JA. Publications in the BJD: the impact of being read (and?cited). Br J Dermatol. 2024 09 18; 191(4):475-476. PMID: 38941442.
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    11. McGrath JA. Pioneers in Dermatology and Venereology: An interview with Professor John McGrath. J Eur Acad Dermatol Venereol. 2024 Aug; 38(8):1465-1468. PMID: 39049763.
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    12. Aala WJF, Hou PC, Hong YK, Lin YC, Lee YR, Tu WT, Papanikolaou M, Benzian-Olsson N, Onoufriadis A, I Chen Harn H, Hwang DY, Cheng SM, Lu K, Chen PC, McGrath JA, Hsu CK. Dominant dystrophic epidermolysis bullosa is associated with glycolytically active GATA3+ T helper 2 cells which may contribute to pruritus in lesional skin. Br J Dermatol. 2024 07 16; 191(2):252-260. PMID: 38477474.
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    13. McGrath JA, Ahmed S. Paper mill-backed writers: Here, there and everywhere? Br J Dermatol. 2024 07 16; 191(2):151-152. PMID: 38781446.
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    14. Rayinda T, McSweeney SM, Christou E, Ung CY, Fenton DA, McGrath JA, Dand N, Simpson MA, Tziotzios C. Gene-Environment Interaction Between CYP1B1 and Oral Contraception on Frontal Fibrosing Alopecia. JAMA Dermatol. 2024 07 01; 160(7):732-735. PMID: 38809548.
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    15. McGrath JA. BJD: striving to be the Best Journal in?Dermatology in a changing world. Br J Dermatol. 2024 06 20; 191(1):1-2. PMID: 38875110.
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    16. Wang C, Gu C, Popp C, Vashisth P, Mustfa SA, Martella DA, Spiteri C, McLennan S, Sun N, Riddle M, Eide CR, Parsons M, Tolar J, McGrath JA, Chiappini C. Integrating Porous Silicon Nanoneedles within Medical Devices for Nucleic Acid Nanoinjection. ACS Nano. 2024 06 11; 18(23):14938-14953. PMID: 38726598.
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    17. Stone W, Strege C, Miller W, Geurts AM, Grzybowski M, Riddle M, Lees C, Eide C, Keene DR, Tufa SF, Seelig D, McGrath J, Tolar J. Creation and characterization of novel rat model for recessive dystrophic epidermolysis bullosa: Frameshift mutation of the Col7a1 gene leads to severe blistered phenotype. PLoS One. 2024; 19(5):e0302991. PMID: 38722855.
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    18. Guri-Lamce I, AlRokh Y, Kim Y, Maeshima R, Graham C, Hart SL, McGrath JA, Jack?w-Malinowska J. Topical gene editing therapeutics using lipid nanoparticles: 'gene creams' for genetic skin diseases? Br J Dermatol. 2024 04 17; 190(5):617-627. PMID: 38149939.
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    19. Popp C, Miller W, Eide C, Tolar J, McGrath JA, Ebens CL. Beyond the Surface: A Narrative Review Examining the Systemic Impacts of Recessive Dystrophic Epidermolysis Bullosa. J Invest Dermatol. 2024 Sep; 144(9):1943-1953. PMID: 38613531.
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    20. Guri-Lamce I, Alrokh Y, Graham C, Maeshima R, Rognoni E, Caley M, Laczmanski L, Hart SL, McGrath JA, Jack?w-Malinowska J. Lipid Nanoparticles Efficiently Deliver the Base Editor ABE8e for COL7A1 Correction in Dystrophic Epidermolysis Bullosa Fibroblasts In?Vitro. J Invest Dermatol. 2024 Oct; 144(10):2314-2317.e3. PMID: 38583743.
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    21. Beck C, Pedersen CB, Plana-Ripoll O, Dalsgaard S, Debost JP, Laursen TM, Musliner KL, Mortensen PB, Pedersen MG, Petersen LV, Yilmaz Z, McGrath J, Agerbo E. A comprehensive analysis of age of onset and cumulative incidence of mental disorders: A Danish register study. Acta Psychiatr Scand. 2024 06; 149(6):467-478. PMID: 38523413.
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    22. Nanda A, Chang YH, Cheng HC, Lai IT, Al-Lafi A, McGrath JA, Hsu CK. Autosomal recessive plantar keratoderma with ragged periungual hyperkeratosis caused by a homozygous missense variant in?KRT16. Br J Dermatol. 2024 03 15; 190(4):588-590. PMID: 38170465.
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    23. Brooks IR, Alrokh Y, Kazemizadeh A, Balon K, Newby G, Liu DR, Laczmanski L, McGrath JA, Jack?w-Malinowska J. Highly efficient biallelic correction of homozygous COL7A1 mutation using ABE8e adenine base editor. Br J Dermatol. 2024 03 15; 190(4):583-585. PMID: 38149684.
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    24. Papanikolaou M, Nattkemper L, Benzian-Olsson N, Liu L, Guy A, Lu H, Kadiyirire T, Hou PC, Aala W, Serrano S, Pramanik R, Walters N, Dimitrakopoulou K, Lwin S, Kalfas E, Satoc J, Laddach R, Cozzetto D, Thomas B, Kesidou E, Rashidghamat E, Orchard G, O'Toole EA, Hsu CK, Saqi M, Steinhoff M, Onoufriadis A, Yosipovitch G, Gould H, Mellerio JE, McGrath JA. Th2 response drives itch in dystrophic epidermolysis bullosa pruriginosa: A case-control study. J Am Acad Dermatol. 2024 07; 91(1):130-133. PMID: 38484894.
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    25. Tartaglia G, Fuentes I, Patel N, Varughese A, Israel LE, Park PH, Alexander MH, Poojan S, Cao Q, Solomon B, Padron ZM, Dyer JA, Mellerio JE, McGrath JA, Palisson F, Salas-Alanis J, Han L, South AP. Antiviral drugs prolong survival in murine recessive dystrophic epidermolysis bullosa. EMBO Mol Med. 2024 04; 16(4):870-884. PMID: 38462666.
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    26. Lau CH, Rouhani MJ, Maughan EF, Orr JC, Kolluri KK, Pearce DR, Haughey EK, Sutton L, Flatau S, Balboa PL, Bageta ML, O'Callaghan C, Smith CM, Janes SM, Hewitt R, Petrof G, Martinez AE, McGrath JA, Butler CR, Hynds RE. Lentiviral expression of wild-type LAMA3A restores cell adhesion in airway basal cells from children with epidermolysis bullosa. Mol Ther. 2024 05 01; 32(5):1497-1509. PMID: 38429928.
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    27. Doolan BJ, McGrath JA, Mellerio JE. Beremagene geperpavec (B-VEC) gene therapy for the treatment of cutaneous wounds in patients with dystrophic epidermolysis bullosa: a critically appraised research paper. Br J Dermatol. 2024 02 16; 190(3):340-342. PMID: 37936299.
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    28. Hong YK, Lin YC, Cheng TL, Lai CH, Chang YH, Huang YL, Hung CY, Wu CH, Hung KS, Ku YC, Ho YT, Tang MJ, Lin SW, Shi GY, McGrath JA, Wu HL, Hsu CK. TEM1/endosialin/CD248 promotes pathologic scarring and TGF-? activity through its receptor stability in dermal fibroblasts. J Biomed Sci. 2024 Jan 23; 31(1):12. PMID: 38254097.
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    29. Ropret S, Khurana P, Fabcic T, Cvetkovska J, Trobec A, Jokhadar ?Z, Ilic D, McGrath JA, Guttmann-Gruber C, Liovic M. Induced pluripotent stem cell (iPSC) line MLi005-A derived from a patient with dominant dystrophic epidermolysis bullosa (DDEB). Stem Cell Res. 2024 03; 75:103306. PMID: 38271763.
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    30. Hong YK, Hwang DY, Yang CC, Cheng SM, Chen PC, Aala WJ, I-Chen Harn H, Evans ST, Onoufriadis A, Liu SL, Lin YC, Chang YH, Lo TK, Hung KS, Lee YC, Tang MJ, Lu KQ, McGrath JA, Hsu CK. Profibrotic Subsets of SPP1+ Macrophages and POSTN+ Fibroblasts Contribute to Fibrotic Scarring in Acne Keloidalis. J Invest Dermatol. 2024 Jul; 144(7):1491-1504.e10. PMID: 38218364.
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    31. Jeffs E, Pillay E, Ledwaba-Chapman L, Bisquera A, Robertson S, McGrath J, Wang Y, Martinez A, Patel A, Mellerio J. Costs of UK community care for individuals with recessive dystrophic epidermolysis bullosa: Findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study. Skin Health Dis. 2024 Feb; 4(1):e314. PMID: 38312260.
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    32. Saced?n R, de Arriba MC, Mart?nez-Santamar?a L, Maseda R, Herr?iz-Gil S, Jim?nez E, Rosales I, Quintana L, Illera N, Garc?a M, Butta N, Fern?ndez-Bello I, Lwin SM, Fern?ndez-Arquero M, Le?n C, McGrath JA, Vicente M?, Del R?o M, de Lucas R, S?nchez-Ram?n S, Esc?mez MJ. Gluten-sensitive enteropathy in recessive dystrophic epidermolysis bullosa. Br J Dermatol. 2023 11 16; 189(6):774-776. PMID: 37655918.
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    33. McSweeney SM, Saklatvala J, Rispoli R, Ganier C, Woszczek G, Thomas L, Hveem K, L?set M, Dand N, Tziotzios C, Simpson M, McGrath JA. Genome-wide meta-analysis implicates variation affecting mast cell biology in urticaria. J Allergy Clin Immunol. 2024 02; 153(2):521-526.e11. PMID: 37690594.
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    34. Dieter K, Niebergall-Roth E, Daniele C, Fluhr S, Frank NY, Ganss C, Kiritsi D, McGrath JA, Tolar J, Frank MH, Kluth MA. Corrigendum to ABCB5+ mesenchymal stromal cells facilitate complete and durable wound closure in recessive dystrophic epidermolysis bullosa [Cytotherapy 25 (2023) 782-788/1562]. Cytotherapy. 2023 Sep; 25(9):1016. PMID: 37517864.
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    35. Mellerio JE, Pillay EI, Ledwaba-Chapman L, Bisquera A, Robertson SJ, Papanikolaou M, McGrath JA, Wang Y, Martinez AE, Jeffs E. Itch in recessive dystrophic epidermolysis bullosa: findings of PEBLES, a prospective register study. Orphanet J Rare Dis. 2023 08 09; 18(1):235. PMID: 37559055.
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    36. Doolan BJ, Rayinda T, Chiu FP, McGrath JA, Onoufriadis A. A review of genotrichoses and hair pathology associated with inherited skin diseases. Br J Dermatol. 2023 07 17; 189(2):154-160. PMID: 36978220.
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    37. Rayinda T, McSweeney SM, Fassihi H, Fenton D, Liu L, Stefanato CM, Dand N, McGrath JA, Tziotzios C. A novel heterozygous missense variant in ribosomal protein L21 associated with familial hypotrichosis simplex. Clin Exp Dermatol. 2023 07 07; 48(7):840-843. PMID: 36929380.
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    38. Hou PC, Del Agua N, Lwin SM, Hsu CK, McGrath JA. Innovations in the Treatment of Dystrophic Epidermolysis Bullosa (DEB): Current Landscape and Prospects. Ther Clin Risk Manag. 2023; 19:455-473. PMID: 37337559.
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    39. Rayinda T, McSweeney SM, Fenton D, Stefanato CM, Harries M, Palamaras I, Tidman A, Holmes S, Koutalopoulou A, Ardern-Jones M, Williams G, Papanikou S, Chasapi V, Va??-Galvan S, Saceda-Corralo D, Meli?n-Olivera A, Azcarraga-Llobet C, Lobato-Berezo A, Bustamante M, Sunyer J, Starace MVR, Piraccini BM, Wiss IP, Senna MM, Singh R, Hilmann K, Kanti-Schmidt V, Blume-Peytavi U, Simpson M, McGrath JA, Dand N, Tziotzios C. Shared Genetic Risk Variants in Both Male and Female Frontal Fibrosing Alopecia. J Invest Dermatol. 2023 Nov; 143(11):2311-2314.e5. PMID: 37211199.
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    40. Tekkela S, Theocharidis G, McGrath JA, Onoufriadis A. Spatial transcriptomics in human skin research. Exp Dermatol. 2023 06; 32(6):731-739. PMID: 37150587.
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    41. Rayinda T, McSweeney SM, Lalagianni N, Liu L, Guy A, Fenton D, Stefanato CM, Dand N, McGrath JA, Tziotzios C. Familial hypotrichosis simplex of the scalp associated with a novel heterozygous nonsense variant in CDSN. Clin Exp Dermatol. 2023 04 27; 48(5):579-583. PMID: 36864587.
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    42. McSweeney SM, Christou EAA, Maurer M, Grattan CE, Tziotzios C, McGrath JA. Physical urticaria: Clinical features, pathogenesis, diagnostic work-up, and management. J Am Acad Dermatol. 2023 08; 89(2):324-337. PMID: 37001733.
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    43. Dieter K, Niebergall-Roth E, Daniele C, Fluhr S, Frank NY, Ganss C, Kiritsi D, McGrath JA, Tolar J, Frank MH, Kluth MA. ABCB5+ mesenchymal stromal cells facilitate complete and durable wound closure in recessive dystrophic epidermolysis bullosa. Cytotherapy. 2023 07; 25(7):782-788. PMID: 36868990.
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    44. Naso G, Gkazi SA, Georgiadis C, Jayarajan V, Jack?w J, Fleck R, Allison L, Ogunbiyi OK, McGrath JA, Ilic D, Di WL, Petrova A, Qasim W. Cytosine Deaminase Base Editing to Restore COL7A1 in Dystrophic Epidermolysis Bullosa Human: Murine Skin Model. JID Innov. 2023 May; 3(3):100191. PMID: 37213713.
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    45. McSweeney SM, Kloczko E, Chadha M, Sarkany R, Fassihi H, Tziotzios C, McGrath JA. Systematic review of the clinical characteristics and natural history of solar urticaria. J Am Acad Dermatol. 2023 07; 89(1):138-140. PMID: 36796725.
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    46. McSweeney SM, Rayinda T, McGrath JA, Tziotzios C. Two phase III trials of baricitinib for alopecia areata: a critically appraised research paper. Br J Dermatol. 2023 02 10; 188(2):195-197. PMID: 36763859.
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    47. Alheggi A, McGrath JA, Hubbard L, Greenblatt DT, Mellerio JE. Treatment of multifactorial anaemia in adults with severe epidermolysis bullosa using intravenous ferric carboxymaltose: a single institution, observational, retrospective study. Br J Dermatol. 2023 02 10; 188(2):306-307. PMID: 36763865.
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    48. Endzhievskaya S, Hsu CK, Yang HS, Huang HY, Lin YC, Hong YK, Lee JYW, Onoufriadis A, Takeichi T, Yu-Yun Lee J, Shaw TJ, McGrath JA, Parsons M. Loss of RhoE Function in Dermatofibroma Promotes Disorganized Dermal Fibroblast Extracellular Matrix and Increased Integrin Activation. J Invest Dermatol. 2023 08; 143(8):1487-1497.e9. PMID: 36774976.
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    49. Lalagianni N, McSweeney SM, Christou EAA, Rayinda T, Ferguson J, Stefanato CM, McGrath JA, Tziotzios C. Actinic lichen planopilaris: a new variant of lichen planopilaris triggered by ultraviolet radiation. Clin Exp Dermatol. 2023 02 02; 48(2):158-160. PMID: 36730518.
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    50. Ung CY, Warwick A, Onoufriadis A, Barker JN, Parsons M, McGrath JA, Shaw TJ, Dand N. Comorbidities of Keloid and Hypertrophic Scars Among Participants in UK Biobank. JAMA Dermatol. 2023 02 01; 159(2):172-181. PMID: 36598763.
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    51. Jackson A, Moss C, Chandler KE, Balboa PL, Bageta ML, Petrof G, Martinez AE, Liu L, Guy A, Mellerio JE, Lee JYW, Ogboli M, Ryan G, McGrath JA, Banka S. Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects. Br J Dermatol. 2023 01 23; 188(1):75-83. PMID: 36689522.
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    52. Tu WT, Hou PC, Chen PC, Chen WR, Huang HY, Wang JY, Huang YT, Wu YH, Su CL, Tang YA, Iwata H, Natsuga K, Chao SC, Sun HS, Tang MJ, Lee JY, McGrath JA, Hsu CK. Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients. Orphanet J Rare Dis. 2022 12 28; 17(1):451. PMID: 36578049.
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    53. Sheriff A, Guri I, Zebrowska P, Llopis-Hernandez V, Brooks IR, Tekkela S, Subramaniam K, Gebrezgabher R, Naso G, Petrova A, Balon K, Onoufriadis A, Kujawa D, Kotulska M, Newby G, Laczmanski L, Liu DR, McGrath JA, Jack?w J. ABE8e adenine base editor precisely and efficiently corrects a recurrent COL7A1 nonsense mutation. Sci Rep. 2022 11 16; 12(1):19643. PMID: 36385635.
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    54. Greenblatt DT, Hubbard L, Bloor C, Card D, McGrath JA, Mellerio JE. Vitamin C concentrations in patients with epidermolysis bullosa. Br J Dermatol. 2022 11; 187(5):808-810. PMID: 35763388.
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    55. Chen YF, Lu HC, Hou PC, Lin YC, Aala WJ, Onoufriadis A, McGrath JA, Chen YL, Hsu CK. Plasma metabolomic profiling reflects the malnourished and chronic inflammatory state in recessive dystrophic epidermolysis bullosa. J Dermatol Sci. 2022 Aug; 107(2):82-88. PMID: 35909063.
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    56. Cao Q, Tartaglia G, Alexander M, Park PH, Poojan S, Farshchian M, Fuentes I, Chen M, McGrath JA, Palisson F, Salas-Alanis J, South AP. Collagen VII maintains proteostasis in dermal fibroblasts by scaffolding TANGO1 cargo. Matrix Biol. 2022 08; 111:226-244. PMID: 35779741.
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    57. Han JH, Ryan G, Guy A, Liu L, Quinodoz M, Helbling I, Lai-Cheong JE, Barwell J, Folcher M, McGrath JA, Moss C, Rivolta C. Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder. Hum Mol Genet. 2022 06 22; 31(12):1970-1978. PMID: 34999892.
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    58. Lwin SM, McGrath JA. Restoring type VII collagen in skin. Med. 2022 05 13; 3(5):273-275. PMID: 35584643.
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    59. Lin YC, Tu WT, Hou PC, Huang HY, Chen PC, Chang CH, Lee JY, McGrath JA, Hsu CK. Autosomal dominant epidermolysis bullosa simplex exacerbated by hyperkeratotic scabies. J Dermatol. 2022 08; 49(8):e283-e284. PMID: 35491651.
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    178. Atanasova VS, Jiang Q, Prisco M, Gruber C, Pi??n Hofbauer J, Chen M, Has C, Bruckner-Tuderman L, McGrath JA, Uitto J, South AP. Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa. J Invest Dermatol. 2017 09; 137(9):1842-1849. PMID: 28549954.
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    179. McGrath JA. The Molecular Revolution in Cutaneous Biology: Era of Molecular Diagnostics for Inherited Skin?Diseases. J Invest Dermatol. 2017 05; 137(5):e83-e86. PMID: 28411852.
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    180. Dinani N, Ali M, Liu L, McGrath J, Mellerio J. Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma. Clin Exp Dermatol. 2017 Apr; 42(3):316-319. PMID: 28239884.
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    181. Scott JG, Gi?rtz Pedersen M, Erskine HE, Bikic A, Demontis D, McGrath JJ, Dalsgaard S. Mortality in individuals with disruptive behavior disorders diagnosed by specialist services - A nationwide cohort study. Psychiatry Res. 2017 May; 251:255-260. PMID: 28219025.
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    182. Lee JYW, Eldeeb MS, Hsu CK, Saito R, Abouzeid SA, McGrath JA. Further evidence for genotype-phenotype disparity in Griscelli syndrome. Br J Dermatol. 2017 04; 176(4):1086-1089. PMID: 27416802.
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    183. Lee JYW, Hsu CK, Michael M, Nanda A, Liu L, McMillan JR, Pourreyron C, Takeichi T, Tolar J, Reid E, Hayday T, Blumen SC, Abu-Mouch S, Straussberg R, Basel-Vanagaite L, Barhum Y, Zouabi Y, Al-Ajmi H, Huang HY, Lin TC, Akiyama M, Lee JYY, McLean WHI, Simpson MA, Parsons M, McGrath JA. Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23. Am J Hum Genet. 2017 Feb 02; 100(2):364-370. PMID: 28157540.
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    184. Rashidghamat E, McGrath JA. Novel and emerging therapies in the treatment of recessive dystrophic epidermolysis bullosa. Intractable Rare Dis Res. 2017 Feb; 6(1):6-20. PMID: 28357176.
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    185. Lee JYW, Liu L, Hsu CK, Aristodemou S, Ozoemena L, Ogboli M, Moss C, Martinez AE, Mellerio JE, McGrath JA. Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa?Simplex. J Invest Dermatol. 2017 06; 137(6):1378-1380. PMID: 28111128.
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    186. Hsu CK, Romano MT, Nanda A, Rashidghamat E, Lee JYW, Huang HY, Songsantiphap C, Lee JY, Al-Ajmi H, Betz RC, Simpson MA, McGrath JA, Tziotzios C. Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3. J Invest Dermatol. 2017 05; 137(5):1176-1179. PMID: 28087452.
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    187. Takeichi T, Sugiura K, Nomura T, Sakamoto T, Ogawa Y, Oiso N, Futei Y, Fujisaki A, Koizumi A, Aoyama Y, Nakajima K, Hatano Y, Hayashi K, Ishida-Yamamoto A, Fujiwara S, Sano S, Iwatsuki K, Kawada A, Suga Y, Shimizu H, McGrath JA, Akiyama M. Pityriasis Rubra Pilaris Type V as an Autoinflammatory Disease by CARD14 Mutations. JAMA Dermatol. 2017 01 01; 153(1):66-70. PMID: 27760266.
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    188. Jeannon JP, Tanaka A, Thavaraj S, Guerrero-Urbano T, McGrath JA, Tavassoli M. ATR gene mutations in HPV negative oropharyngeal cancer. Oral Oncol. 2017 02; 65:121-123. PMID: 28017652.
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    189. Takeichi T, Nanda A, Yang HS, Hsu CK, Lee JY, Al-Ajmi H, Akiyama M, Simpson MA, McGrath JA. Syndromic inherited poikiloderma due to a de novo mutation in FAM111B. Br J Dermatol. 2017 02; 176(2):534-536. PMID: 27406236.
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    190. Saito R, Boyce A, Hsu CK, Rashidghamat E, Hide M, Wedgeworth EK, Flohr C, Mellerio JE, McGrath JA. Predictive phenotyping of inherited ichthyosis by next-generation DNA sequencing. Br J Dermatol. 2017 Jan; 176(1):249-251. PMID: 27291450.
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    191. Fong K, Bailey CV, Tuttle P, Cunningham B, McGrath JA, Cho RJ. Questioning the Clinical Utility of Exome Sequencing in Developing Countries. Pediatr Dermatol. 2017 Jan; 34(1):e32-e34. PMID: 27874213.
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    192. Suetani S, Saha S, Milad A, Eakin E, Scott JG, McGrath JJ. Common mental disorders and recent physical activity status: findings from a National Community Survey. Soc Psychiatry Psychiatr Epidemiol. 2017 07; 52(7):795-802. PMID: 27832319.
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    193. Tziotzios C, Stefanato CM, Fenton DA, Simpson MA, McGrath JA. Frontal fibrosing alopecia: reflections and hypotheses on aetiology and pathogenesis. Exp Dermatol. 2016 11; 25(11):847-852. PMID: 27198858.
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    194. Seegobin SD, Tziotzios C, Stefanato CM, Bhargava K, Fenton DA, McGrath JA. Frontal fibrosing alopecia: there is no statistically significant association with leave-on facial skin care products and sunscreens. Br J Dermatol. 2016 Dec; 175(6):1407-1408. PMID: 27614082.
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    195. Zhong FL, Mama? O, Sborgi L, Boussofara L, Hopkins R, Robinson K, Szever?nyi I, Takeichi T, Balaji R, Lau A, Tye H, Roy K, Bonnard C, Ahl PJ, Jones LA, Baker PJ, Lacina L, Otsuka A, Fournie PR, Malecaze F, Lane EB, Akiyama M, Kabashima K, Connolly JE, Masters SL, Soler VJ, Omar SS, McGrath JA, Nedelcu R, Gribaa M, Denguezli M, Saad A, Hiller S, Reversade B. Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation. Cell. 2016 Sep 22; 167(1):187-202.e17. PMID: 27662089.
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    196. Lwin SM, Hsu CK, McMillan JR, Mellerio JE, McGrath JA. Ichthyosis Prematurity Syndrome: From Fetus to Adulthood. JAMA Dermatol. 2016 09 01; 152(9):1055-8. PMID: 27224495.
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    197. Petrova A, Capalbo A, Jacquet L, Hazelwood-Smith S, Dafou D, Hobbs C, Arno M, Farcomeni A, Devito L, Badraiq H, Simpson M, McGrath JA, Di WL, Cheng JB, Mauro TM, Ilic D. Induced Pluripotent Stem Cell Differentiation and Three-Dimensional Tissue Formation Attenuate Clonal Epigenetic Differences in Trichohyalin. Stem Cells Dev. 2016 09 15; 25(18):1366-75. PMID: 27460132.
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    198. Hsu CK, Liu L, Can PK, Kocat?rk E, McMillan JR, G?ng?r S, H?rdogan ?, Sargan A, Degirmentepe EN, Lee JY, Simpson MA, McGrath JA. Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1. J Dermatol Sci. 2016 Nov; 84(2):210-212. PMID: 27554337.
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    199. Boente Mdel C, Nanda A, Baselaga PA, Kelsell DP, McGrath JA, South AP. Cardiomyopathy diagnosed in the eldest child harbouring p.S24X mutation in JUP. Br J Dermatol. 2016 Sep; 175(3):644-6. PMID: 27037756.
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    200. Rashidghamat E, Hsu CK, Nanda A, Liu L, Al-Ajmi H, McGrath JA. Incontinentia pigmenti in a father and daughter. Br J Dermatol. 2016 Nov; 175(5):1059-1060. PMID: 27037530.
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    201. Zhang G, Gu Y, Begum R, Chen H, Gao X, McGrath JA, Parsons M, Song B. Kindlin-1 Regulates Keratinocyte Electrotaxis. J Invest Dermatol. 2016 11; 136(11):2229-2239. PMID: 27427485.
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    202. Takeichi T, Liu L, Abdul-Wahab A, McMillan JR, Stone KL, Akiyama M, Simpson MA, Parsons M, Mellerio JE, McGrath JA. Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic?Ichthyosis. J Invest Dermatol. 2016 10; 136(10):2095-2098. PMID: 27349861.
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    203. Mehta D, Tropf FC, Gratten J, Bakshi A, Zhu Z, Bacanu SA, Hemani G, Magnusson PK, Barban N, Esko T, Metspalu A, Snieder H, Mowry BJ, Kendler KS, Yang J, Visscher PM, McGrath JJ, Mills MC, Wray NR, Lee SH, Andreassen OA, Bramon E, Bruggeman R, Buxbaum JD, Cairns MJ, Cantor RM, Cloninger CR, Cohen D, Crespo-Facorro B, Darvasi A, DeLisi LE, Dinan T, Djurovic S, Donohoe G, Drapeau E, Escott-Price V, Freimer NB, Georgieva L, de Haan L, Henskens FA, Joa I, Juli? A, Khrunin A, Lerer B, Limborska S, Loughland CM, Macek M, Magnusson PK, Marsal S, McCarley RW, McIntosh AM, McQuillin A, Melegh B, Michie PT, Morris DW, Murphy KC, Myin-Germeys I, Olincy A, Van Os J, Pantelis C, Posthuma D, Quested D, Schall U, Scott RJ, Seidman LJ, Toncheva D, Tooney PA, Waddington J, Weinberger DR, Weiser M, Wu JQ. Evidence for Genetic Overlap Between Schizophrenia and Age at First Birth in Women. JAMA Psychiatry. 2016 05 01; 73(5):497-505. PMID: 27007234.
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    204. Tziotzios C, Fenton DA, Stefanato CM, McGrath JA. Finasteride is of uncertain utility in treating frontal fibrosing alopecia. J Am Acad Dermatol. 2016 Apr; 74(4):e73-4. PMID: 26979373.
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    205. Tolarov? M, McGrath JA, Tolar J. Venturing into the New Science of?Nucleases. J Invest Dermatol. 2016 Apr; 136(4):742-745. PMID: 27012560.
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    206. Uitto J, Bruckner-Tuderman L, Christiano AM, McGrath JA, Has C, South AP, Kopelan B, Robinson EC. Progress toward Treatment and Cure of Epidermolysis Bullosa: Summary of the DEBRA International Research Symposium EB2015. J Invest Dermatol. 2016 Feb; 136(2):352-358. PMID: 26802230.
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    207. McGrath JA. Rare inherited skin diseases and the Genomics England 100 000 Genome Project. Br J Dermatol. 2016 Feb; 174(2):257-8. PMID: 26871914.
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    208. Georgiadis C, Syed F, Petrova A, Abdul-Wahab A, Lwin SM, Farzaneh F, Chan L, Ghani S, Fleck RA, Glover L, McMillan JR, Chen M, Thrasher AJ, McGrath JA, Di WL, Qasim W. Lentiviral Engineered Fibroblasts Expressing Codon-Optimized COL7A1 Restore Anchoring Fibrils in RDEB. J Invest Dermatol. 2016 Jan; 136(1):284-92. PMID: 26763448.
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    209. Sathishkumar D, Orrin E, Terron-Kwiatkowski A, Browne F, Martinez AE, Mellerio JE, Ogboli M, Hoey S, Ozoemena L, Liu L, Baty D, McGrath JA, Moss C. The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex. J Invest Dermatol. 2016 Mar; 136(3):719-721. PMID: 26743602.
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    210. McGrath JA. Recently Identified Forms of Epidermolysis Bullosa. Ann Dermatol. 2015 Dec; 27(6):658-66. PMID: 26719633.
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    211. Rashidghamat E, Ozoemena L, Liu L, McGrath JA, Martinez AE, Mellerio JE. Mutations in EXPH5 underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex. Br J Dermatol. 2016 Feb; 174(2):452-3. PMID: 26211931.
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    212. Abdul-Wahab A, Takeichi T, Liu L, Lomas D, Hughes B, Akiyama M, McGrath JA, Mellerio JE. Autosomal dominant diffuse nonepidermolytic palmoplantar keratoderma due to a recurrent mutation in aquaporin-5. Br J Dermatol. 2016 Feb; 174(2):430-2. PMID: 26032342.
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    213. Mellerio JE, Robertson SJ, Bernardis C, Diem A, Fine JD, George R, Goldberg D, Halmos GB, Harries M, Jonkman MF, Lucky A, Martinez AE, Maubec E, Morris S, Murrell DF, Palisson F, Pillay EI, Robson A, Salas-Alanis JC, McGrath JA. Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines. Br J Dermatol. 2016 Jan; 174(1):56-67. PMID: 26302137.
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    214. Wali A, Liu L, Takeichi T, Jelani M, Rahman OU, Heng YK, Thng S, Lee J, Akiyama M, McGrath JA, Betz RC. Familial primary localized cutaneous amyloidosis results from either dominant or recessive mutations in OSMR. Acta Derm Venereol. 2015 Nov; 95(8):1005-7. PMID: 25792357.
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    215. Takeichi T, Sugiura K, Tso S, Simpson MA, McGrath JA, Akiyama M. Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome. J Dermatol Sci. 2016 Feb; 81(2):134-6. PMID: 26547112.
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    216. Martins VL, Caley MP, Moore K, Szentpetery Z, Marsh ST, Murrell DF, Kim MH, Avari M, McGrath JA, Cerio R, Kivisaari A, K?h?ri VM, Hodivala-Dilke K, Brennan CH, Chen M, Marshall JF, O'Toole EA. Suppression of TGF? and Angiogenesis by Type VII Collagen in Cutaneous SCC. J Natl Cancer Inst. 2016 Jan; 108(1). PMID: 26476432.
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    217. Cunningham L, Liu L, Menzies S, McGrath JA, Lally A. Novel missense mutation in a patient with recessive pretibial epidermolysis bullosa and a mild phenotype. J Eur Acad Dermatol Venereol. 2016 Nov; 30(11):e115-e116. PMID: 26446410.
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    218. Moore RC, Harmell AL, Harvey PD, Bowie CR, Depp CA, Pulver AE, McGrath JA, Patterson TL, Cardenas V, Wolyniec P, Thornquist MH, Luke JR, Palmer BW, Jeste DV, Mausbach BT. Improving the understanding of the link between cognition and functional capacity in schizophrenia and bipolar disorder. Schizophr Res. 2015 Dec; 169(1-3):121-127. PMID: 26427917.
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    219. Hsu CK, Saito R, Nanda A, Rashidghamat E, Al-Ajmi H, Lee JY, Hide M, McGrath JA. Systematised naevus sebaceus resulting from post-zygotic mutation in HRAS. Australas J Dermatol. 2017 Feb; 58(1):58-60. PMID: 26400620.
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    220. Watt SA, Dayal JH, Wright S, Riddle M, Pourreyron C, McMillan JR, Kimble RM, Prisco M, Gartner U, Warbrick E, McLean WH, Leigh IM, McGrath JA, Salas-Alanis JC, Tolar J, South AP. Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis Bullosa. PLoS One. 2015; 10(9):e0137639. PMID: 26380979.
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    221. Abdul-Wahab A, Takeichi T, Liu L, Stephens C, Akiyama M, McGrath JA. Intrafamilial phenotypic heterogeneity of epidermolytic ichthyosis associated with a new missense mutation in keratin 10. Clin Exp Dermatol. 2016 Apr; 41(3):290-3. PMID: 26338057.
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    222. Pohler E, Cunningham F, Sandilands A, Cole C, Digby S, McMillan JR, Aristodemou S, McGrath JA, Smith FJ, McLean WH, Munro CS, Zamiri M. Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis. Br J Dermatol. 2015 Nov; 173(5):1291-4. PMID: 25965869.
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    223. Berki DM, Liu L, Choon SE, David Burden A, Griffiths CEM, Navarini AA, Tan ES, Irvine AD, Ranki A, Ogo T, Petrof G, Mahil SK, Duckworth M, Allen MH, Vito P, Trembath RC, McGrath J, Smith CH, Capon F, Barker JN. Activating CARD14 Mutations Are Associated with Generalized Pustular Psoriasis but Rarely Account for Familial Recurrence in Psoriasis Vulgaris. J Invest Dermatol. 2015 Dec; 135(12):2964-2970. PMID: 26203641.
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    224. Cuell A, Bansal N, Cole T, Kaur MR, Lee J, Loffeld A, Moss C, O'Donnell M, Takeichi T, Thind CK, McGrath JA. Familial progressive hyper- and hypopigmentation and malignancy in two families with new mutations in KITLG. Clin Exp Dermatol. 2015 Dec; 40(8):860-4. PMID: 26179221.
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    225. Takeichi T, Sugiura K, Hsu CK, Tanahashi K, Takama H, Simpson MA, McGrath JA, Akiyama M. Novel indel mutation of STS underlies a new phenotype of self-healing recessive X-linked ichthyosis. J Dermatol Sci. 2015 Sep; 79(3):317-9. PMID: 26169345.
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    226. Geyer MB, Radhakrishnan K, Giller R, Umegaki N, Harel S, Kiuru M, Morel KD, LeBoeuf N, Kandel J, Bruckner A, Fabricatore S, Chen M, Woodley D, McGrath J, Baxter-Lowe L, Uitto J, Christiano AM, Cairo MS. Reduced Toxicity Conditioning and Allogeneic Hematopoietic Progenitor Cell Transplantation for Recessive Dystrophic Epidermolysis Bullosa. J Pediatr. 2015 Sep; 167(3):765-9.e1. PMID: 26148662.
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    227. Tziotzios C, Fenton DA, Stefanato CM, McGrath JA. Familial frontal fibrosing alopecia. J Am Acad Dermatol. 2015 Jul; 73(1):e37. PMID: 26089074.
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    228. Mutlu M, Kalay E, Dilber B, Aslan Y, Dilber E, Almaani N, McGrath JA. Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4). Turk J Pediatr. 2015 Jul-Aug; 57(4):385-387. PMID: 27186702.
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    229. Almeida HL, Goetze FM, Fong K, Lai-Cheong J, McGrath J. Is adermatoglyphia an additional feature of Kindler Syndrome? An Bras Dermatol. 2015 Jul-Aug; 90(4):592-3. PMID: 26375235.
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    230. McGrath JJ, Saha S, Al-Hamzawi A, Alonso J, Bromet EJ, Bruffaerts R, Caldas-de-Almeida JM, Chiu WT, de Jonge P, Fayyad J, Florescu S, Gureje O, Haro JM, Hu C, Kovess-Masfety V, Lepine JP, Lim CC, Mora ME, Navarro-Mateu F, Ochoa S, Sampson N, Scott K, Viana MC, Kessler RC. Psychotic Experiences in the General Population: A Cross-National Analysis Based on 31,261 Respondents From 18 Countries. JAMA Psychiatry. 2015 Jul; 72(7):697-705. PMID: 26018466.
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    231. Petrof G, Lwin SM, Martinez-Queipo M, Abdul-Wahab A, Tso S, Mellerio JE, Slaper-Cortenbach I, Boelens JJ, Tolar J, Veys P, Ofuya M, Peacock JL, Martinez AE, McGrath JA. Potential of Systemic Allogeneic Mesenchymal Stromal Cell Therapy for Children with Recessive Dystrophic Epidermolysis Bullosa. J Invest Dermatol. 2015 Sep; 135(9):2319-2321. PMID: 25905587.
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    232. van der Velden JJ, van Geel M, Nellen RG, Jonkman MF, McGrath JA, Nanda A, Sprecher E, van Steensel MA, McLean WH, Cassidy AJ. Novel TGM5 mutations in acral peeling skin syndrome. Exp Dermatol. 2015 Apr; 24(4):285-9. PMID: 25644735.
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    233. Kubota T, Mizuta T, Katagiri H, Shimaguchi M, Okumura K, Sakamoto T, Sakata T, Kunisaki S, Matsumoto R, Nishida K, Schaprynsky V, Vorovsky O, Romanchuk V, Basta M, Fischer J, Wink J, Kovach S, Tan WB, Tang SW, Clara ES, Hu J, Wijerathne S, Cheah WK, Shabbir A, Lomanto D, Siawash M, de Jager-Kieviet JW, Tjon A Ten W, Roumen RM, Scheltinga MR, van Assen T, Boelens OB, van Eerten PV, Perquin C, DeAsis F, Salabat M, Leung D, Schindler N, Robicsek A, Denham W, Ujiki M, Bauder A, Mackay D, Maggiori L, Moszkowicz D, Zappa M, Mongin C, Panis Y, K?hler G, Hofmann A, Lechner M, Mayer F, Emmanuel K, Fortelny R, Gruber-Blum S, May C, Glaser K, Redl H, Petter-Puchner A, Narang S, Alam N, Campain N, McGrath J, Daniels IR, Smart NJ. Complex Cases in Abdominal Wall Repair and Prophilactic Mesh. Hernia. 2015 Apr; 19 Suppl 1:S133-7. PMID: 26518790.
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    234. Takeichi T, Nanda A, Aristodemou S, McMillan JR, Lee J, Akiyama M, Al-Ajmi H, Simpson MA, McGrath JA. Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family. Br J Dermatol. 2015; 172(5):1407-11. PMID: 25308318.
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    235. Takeichi T, Hsu CK, Yang HS, Chen HY, Wong TW, Tsai WL, Chao SC, Lee JY, Akiyama M, Simpson MA, McGrath JA. Progressive hyperpigmentation in a Taiwanese child due to an inborn error of vitamin B12 metabolism (cblJ). Br J Dermatol. 2015 Apr; 172(4):1111-5. PMID: 25234635.
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    236. Tolar J, McGrath JA. The three-body problem of therapy with induced pluripotent stem cells. Genome Med. 2015; 7(1):15. PMID: 25705260.
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    237. Fong K, Takeichi T, Liu L, Pramanik R, Lee J, Akiyama M, McGrath JA. Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2. Clin Exp Dermatol. 2015 Jul; 40(5):529-32. PMID: 25683132.
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    238. Lee BK, McGrath JJ. Advancing parental age and autism: multifactorial pathways. Trends Mol Med. 2015 Feb; 21(2):118-25. PMID: 25662027.
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    239. Dousset L, Seneschal J, Boniface K, Charreau S, Ezzedine K, Milpied B, Mossalayi MD, McGrath JA, Lecron JC, Ta?eb A. A Th2 cytokine interleukin-31 signature in a case of sporadic lichen amyloidosis. Acta Derm Venereol. 2015 Feb; 95(2):223-4. PMID: 24573820.
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    240. Iinuma S, Aikawa E, Tamai K, Fujita R, Kikuchi Y, Chino T, Kikuta J, McGrath JA, Uitto J, Ishii M, Iizuka H, Kaneda Y. Transplanted bone marrow-derived circulating PDGFRa+ cells restore type VII collagen in recessive dystrophic epidermolysis bullosa mouse skin graft. J Immunol. 2015 Feb 15; 194(4):1996-2003. PMID: 25601922.
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    241. Mcgrath JA. Lipoid proteinosis. Handb Clin Neurol. 2015; 132:317-22. PMID: 26564090.
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    242. Salam A, McGrath JA. Diagnosis by numbers: defining skin disease pathogenesis through collated gene signatures. J Invest Dermatol. 2015 Jan; 135(1):17-19. PMID: 25501379.
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    243. Takeichi T, Nanda A, Liu L, Aristodemou S, McMillan JR, Sugiura K, Akiyama M, Al-Ajmi H, Simpson MA, McGrath JA. Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait. Br J Dermatol. 2015 Feb; 172(2):527-31. PMID: 25059916.
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    331. Tamai K, Yamazaki T, Chino T, Ishii M, Otsuru S, Kikuchi Y, Iinuma S, Saga K, Nimura K, Shimbo T, Umegaki N, Katayama I, Miyazaki J, Takeda J, McGrath JA, Uitto J, Kaneda Y. PDGFRalpha-positive cells in bone marrow are mobilized by high mobility group box 1 (HMGB1) to regenerate injured epithelia. Proc Natl Acad Sci U S A. 2011 Apr 19; 108(16):6609-14. PMID: 21464317.
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    332. Salih MA, Abu-Amero KK, Alrasheed S, Alorainy IA, Liu L, McGrath JA, Van Maldergem L, Al-Faky YH, AlSuhaibani AH, Oystreck DT, Bosley TM. Molecular and neurological characterizations of three Saudi families with lipoid proteinosis. BMC Med Genet. 2011 Feb 24; 12:31. PMID: 21349189.
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    333. Saha S, Scott JG, Varghese D, McGrath JJ. The association between general psychological distress and delusional-like experiences: a large population-based study. Schizophr Res. 2011 Apr; 127(1-3):246-51. PMID: 21239145.
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    334. Lai-Cheong JE, McGrath JA, Uitto J. Revertant mosaicism in skin: natural gene therapy. Trends Mol Med. 2011 Mar; 17(3):140-8. PMID: 21195026.
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    335. Fong K, Akdeniz S, Isi H, Taskesen M, McGrath JA, Lai-Cheong JE. New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome. Clin Exp Dermatol. 2011 Jun; 36(4):412-5. PMID: 21564178.
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    336. Lai-Cheong J, McGrath J. Images in clinical medicine. Tinea. N Engl J Med. 2010 Dec 23; 363(26):e39. PMID: 21175309.
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    337. P?rez A, Almaani N, Stefanato CM, BhogaL B, Groves RW, Mellerio JE, McGrath JA. Bullous pemphigoid in a patient with suspected non-Herlitz junctional epidermolysis bullosa. Clin Exp Dermatol. 2010 Dec; 35(8):881-4. PMID: 20456391.
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    338. van den Akker PC, Mellerio JE, Martinez AE, Liu L, Meijer R, Dopping-Hepenstal PJ, van Essen AJ, Scheffer H, Hofstra RM, McGrath JA, Jonkman MF. The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen. J Med Genet. 2011 Mar; 48(3):160-7. PMID: 21113014.
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    339. Petrova A, Ilic D, McGrath JA. Stem cell therapies for recessive dystrophic epidermolysis bullosa. Br J Dermatol. 2010 Dec; 163(6):1149-56. PMID: 20716209.
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    340. Nagy N, Tanaka A, Techanukul T, McGrath JA. Common IL-31 gene haplotype associated with non-atopic eczema is not implicated in epidermolysis bullosa pruriginosa. Acta Derm Venereol. 2010 Nov; 90(6):631-2. PMID: 21057749.
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    341. Kivisaari AK, Kallajoki M, Ala-aho R, McGrath JA, Bauer JW, K?nigov? R, Medvecz M, Beckert W, Gr?nman R, K?h?ri VM. Matrix metalloproteinase-7 activates heparin-binding epidermal growth factor-like growth factor in cutaneous squamous cell carcinoma. Br J Dermatol. 2010 Oct; 163(4):726-35. PMID: 20586780.
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    342. Clements SE, Techanukul T, Holden ST, Mellerio JE, Dorkins H, Escande F, McGrath JA. Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder. Br J Dermatol. 2010 Sep; 163(3):624-9. PMID: 20491771.
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    343. Aksan A, McGrath JJ. Acute recovery of patellar tendon from heat-induced shrinkage and its inhibition by cross-linking. J Biomech Eng. 2010 Sep; 132(9):091007. PMID: 20815641.
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    344. Purdie KJ, Pourreyron C, Fassihi H, Cepeda-Valdes R, Frew JW, Volz A, Weissenborn SJ, Pfister H, Proby CM, Bruckner-Tuderman L, Murrell DF, Salas-Alanis JC, McGrath JA, Leigh IM, Harwood CA, South AP. No evidence that human papillomavirus is responsible for the aggressive nature of recessive dystrophic epidermolysis bullosa-associated squamous cell carcinoma. J Invest Dermatol. 2010 Dec; 130(12):2853-5. PMID: 20739945.
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    345. Wagner JE, Ishida-Yamamoto A, McGrath JA, Hordinsky M, Keene DR, Woodley DT, Chen M, Riddle MJ, Osborn MJ, Lund T, Dolan M, Blazar BR, Tolar J. Bone marrow transplantation for recessive dystrophic epidermolysis bullosa. N Engl J Med. 2010 Aug 12; 363(7):629-39. PMID: 20818854.
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    346. Frew JW, Dopping-Hepenstal PJ, McGrath JA. Categorizing immunoflourescence mapping in epidermolysis bullosa with pyloric atresia: Use as a broad prognostic indicator. Australas J Dermatol. 2010 Aug; 51(3):212-4. PMID: 20695865.
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    347. Nagy N, Grattan CE, McGrath JA. New insights into hereditary angio-oedema: Molecular diagnosis and therapy. Australas J Dermatol. 2010 Aug; 51(3):157-62. PMID: 20695852.
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    348. Forrest K, Mellerio JE, Robb S, Dopping-Hepenstal PJ, McGrath JA, Liu L, Buk SJ, Al-Sarraj S, Wraige E, Jungbluth H. Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin. Neuromuscul Disord. 2010 Nov; 20(11):709-11. PMID: 20624679.
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    349. Li Q, Fallin MD, Louis TA, Lasseter VK, McGrath JA, Avramopoulos D, Wolyniec PS, Valle D, Liang KY, Pulver AE, Ruczinski I. Detection of SNP-SNP interactions in trios of parents with schizophrenic children. Genet Epidemiol. 2010 Jul; 34(5):396-406. PMID: 20568257.
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    350. Tanaka A, Morice-Picard F, Lacombe D, Nagy N, Hide M, Ta?eb A, McGrath J. Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia. Am J Med Genet A. 2010 Jun; 152A(6):1347-8. PMID: 20503306.
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    351. Bruckner-Tuderman L, McGrath JA, Robinson EC, Uitto J. Animal models of epidermolysis bullosa: update 2010. J Invest Dermatol. 2010 Jun; 130(6):1485-8. PMID: 20463671.
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    352. Tanaka A, Lai-Cheong JE, van den Akker PC, Nagy N, Millington G, Diercks GF, van Voorst Vader PC, Clements SE, Almaani N, Techanukul T, Hide M, South AP, McGrath JA. The molecular skin pathology of familial primary localized cutaneous amyloidosis. Exp Dermatol. 2010 May; 19(5):416-23. PMID: 20507362.
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    353. Uitto J, McGrath JA, Rodeck U, Bruckner-Tuderman L, Robinson EC. Progress in epidermolysis bullosa research: toward treatment and cure. J Invest Dermatol. 2010 Jul; 130(7):1778-84. PMID: 20393479.
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    354. Almaani N, Nagy N, Liu L, Dopping-Hepenstal PJ, Lai-Cheong JE, Clements SE, Techanukul T, Tanaka A, Mellerio JE, McGrath JA. Revertant mosaicism in recessive dystrophic epidermolysis bullosa. J Invest Dermatol. 2010 Jul; 130(7):1937-40. PMID: 20357813.
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    355. Fassihi H, McGrath JA. Prenatal diagnosis of epidermolysis bullosa. Dermatol Clin. 2010 Apr; 28(2):231-7, viii. PMID: 20447485.
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    356. Nagy N, Wedgeworth E, Hamada T, White JM, Hashimoto T, McGrath JA. Sch?pf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation in WNT10A. J Dermatol Sci. 2010 Jun; 58(3):220-2. PMID: 20418069.
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    357. El-Kamah GY, Fong K, El-Ruby M, Afifi HH, Clements SE, Lai-Cheong JE, Amr K, El-Darouti M, McGrath JA. Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis. Br J Dermatol. 2010 Jul; 163(1):213-5. PMID: 20331448.
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    358. Groves RW, Liu L, Dopping-Hepenstal PJ, Markus HS, Lovell PA, Ozoemena L, Lai-Cheong JE, Gawler J, Owaribe K, Hashimoto T, Mellerio JE, Mee JB, McGrath JA. A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex. J Invest Dermatol. 2010 Jun; 130(6):1551-7. PMID: 20164846.
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    359. Fassihi H, Liu L, Renwick PJ, Braude PR, McGrath JA. Development and successful clinical application of preimplantation genetic haplotyping for Herlitz junctional epidermolysis bullosa. Br J Dermatol. 2010 Jun; 162(6):1330-6. PMID: 20163412.
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    360. Cabral RM, Liu L, Hogan C, Dopping-Hepenstal PJ, Winik BC, Asial RA, Dobson R, Mein CA, Baselaga PA, Mellerio JE, Nanda A, Boente Mdel C, Kelsell DP, McGrath JA, South AP. Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children. J Invest Dermatol. 2010 Jun; 130(6):1543-50. PMID: 20130592.
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    361. McGrath JA, Bolling MC, Jonkman MF. Lethal acantholytic epidermolysis bullosa. Dermatol Clin. 2010 Jan; 28(1):131-5. PMID: 19945626.
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    362. McGrath JA, Mellerio JE. Ectodermal dysplasia-skin fragility syndrome. Dermatol Clin. 2010 Jan; 28(1):125-9. PMID: 19945625.
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    363. Lin MW, Lee DD, Liu TT, Lin YF, Chen SY, Huang CC, Weng HY, Liu YF, Tanaka A, Arita K, Lai-Cheong J, Palisson F, Chang YT, Wong CK, Matsuura I, McGrath JA, Tsai SF. Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis. Eur J Hum Genet. 2010 Jan; 18(1):26-32. PMID: 19690585.
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    364. Lai-Cheong JE, McGrath JA. Kindler syndrome. Dermatol Clin. 2010 Jan; 28(1):119-24. PMID: 19945624.
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    365. Nagy N, McGrath JA. Blistering skin diseases: a bridge between dermatopathology and molecular biology. Histopathology. 2010 Jan; 56(1):91-9. PMID: 20055907.
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    366. Almaani N, Liu L, Dopping-Hepenstal PJ, Lovell PA, Lai-Cheong JE, Graham RM, Mellerio JE, McGrath JA. Autosomal dominant junctional epidermolysis bullosa. Br J Dermatol. 2009 May; 160(5):1094-7. PMID: 19120338.
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    367. Almaani N, Liu L, Perez A, Robson A, Mellerio JE, McGrath JA. Epidermolysis bullosa pruriginosa in association with lichen planopilaris. Clin Exp Dermatol. 2009 Dec; 34(8):e825-8. PMID: 20055845.
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    368. Clements SE, Techanukul T, Coman D, Mellerio JE, McGrath JA. Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation. Br J Dermatol. 2010 Jan; 162(1):201-7. PMID: 19903181.
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    369. Lai-Cheong JE, Parsons M, McGrath JA. The role of kindlins in cell biology and relevance to human disease. Int J Biochem Cell Biol. 2010 May; 42(5):595-603. PMID: 19854292.
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    370. Saha S, Barnett AG, Buka SL, McGrath JJ. Maternal age and paternal age are associated with distinct childhood behavioural outcomes in a general population birth cohort. Schizophr Res. 2009 Dec; 115(2-3):130-5. PMID: 19781913.
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    371. Lai-Cheong JE, Parsons M, Tanaka A, Ussar S, South AP, Gomathy S, Mee JB, Barbaroux JB, Techanukul T, Almaani N, Clements SE, Hart IR, McGrath JA. Loss-of-function FERMT1 mutations in kindler syndrome implicate a role for fermitin family homolog-1 in integrin activation. Am J Pathol. 2009 Oct; 175(4):1431-41. PMID: 19762710.
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    372. Sakuma TH, Hans-Filho G, Arita K, Odashiro M, Odashiro DN, Hans NR, Hans-Neto G, McGrath JA. Familial primary localized cutaneous amyloidosis in Brazil. Arch Dermatol. 2009 Jun; 145(6):695-9. PMID: 19528426.
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    373. Tanaka A, Arita K, Lai-Cheong JE, Palisson F, Hide M, McGrath JA. New insight into mechanisms of pruritus from molecular studies on familial primary localized cutaneous amyloidosis. Br J Dermatol. 2009 Dec; 161(6):1217-24. PMID: 19663869.
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    374. Martins VL, Vyas JJ, Chen M, Purdie K, Mein CA, South AP, Storey A, McGrath JA, O'Toole EA. Increased invasive behaviour in cutaneous squamous cell carcinoma with loss of basement-membrane type VII collagen. J Cell Sci. 2009 Jun 01; 122(Pt 11):1788-99. PMID: 19435799.
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    375. Saha S, Barnett AG, Foldi C, Burne TH, Eyles DW, Buka SL, McGrath JJ. Advanced paternal age is associated with impaired neurocognitive outcomes during infancy and childhood. PLoS Med. 2009 Mar 10; 6(3):e40. PMID: 19278291.
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    376. Clements SE, Mellerio JE, Holden ST, McCauley J, McGrath JA. PORCN gene mutations and the protean nature of focal dermal hypoplasia. Br J Dermatol. 2009 May; 160(5):1103-9. PMID: 19292719.
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    377. Almaani N, Liu L, Harrison N, Tanaka A, Lai-Cheong J, Mellerio JE, McGrath JA. New glycine substitution mutations in type VII collagen underlying epidermolysis bullosa pruriginosa but the phenotype is not explained by a common polymorphism in the matrix metalloproteinase-1 gene promoter. Acta Derm Venereol. 2009; 89(1):6-11. PMID: 19197535.
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    378. Welham J, Scott J, Williams G, Najman J, O'Callaghan M, McGrath J. Growth in young adults who screen positive for non-affective psychosis: birth cohort study. Aust N Z J Psychiatry. 2009 Jan; 43(1):61-7. PMID: 19085529.
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    379. Horev L, Wollina DU, Potikha T, Hafner A, Ingber A, Liu L, McGrath JA, Zlotogorski A. Lipoid proteinosis: identification of two novel mutations in the human ECM-1 gene and lack of genotype-phenotype correlation. Acta Derm Venereol. 2009; 89(5):528-9. PMID: 19734986.
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    380. Lai-Cheong JE, Tanaka A, Hawche G, Emanuel P, Maari C, Taskesen M, Akdeniz S, Liu L, McGrath JA. Kindler syndrome: a focal adhesion genodermatosis. Br J Dermatol. 2009 Feb; 160(2):233-42. PMID: 19120339.
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    381. Winik BC, Asial RA, McGrath JA, South AP, Boente MC. Acantholytic ectodermal dysplasia: clinicopathological study of a new desmosomal disorder. Br J Dermatol. 2009 Apr; 160(4):868-74. PMID: 19067702.
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    382. Salvestrini C, McGrath JA, Ozoemena L, Husain K, Buhamrah E, Sabery N, Leichtner A, Rufo PA, Perez-Atayde A, Orteu CH, Torrente F, Heuschkel RB, Thomson MA, Murch SH. Desquamative enteropathy and pyloric atresia without skin disease caused by a novel intracellular beta4 integrin mutation. J Pediatr Gastroenterol Nutr. 2008 Nov; 47(5):585-91. PMID: 18955862.
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    383. Mostefai R, Morice-Picard F, Boralevi F, Sautarel M, Lacombe D, Stasia MJ, McGrath J, Ta?eb A. Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco. Am J Med Genet A. 2008 Nov 01; 146A(21):2762-9. PMID: 18925663.
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    384. Tanaka A, Lai-Cheong JE, Caf? ME, Gontijo B, Salom?o PR, Pereira L, McGrath JA. Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families. Br J Dermatol. 2009 Mar; 160(3):692-7. PMID: 19016709.
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    385. Welham J, Isohanni M, Jones P, McGrath J. The antecedents of schizophrenia: a review of birth cohort studies. Schizophr Bull. 2009 May; 35(3):603-23. PMID: 18658128.
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    386. Lai-Cheong JE, Ussar S, Arita K, Hart IR, McGrath JA. Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome. J Invest Dermatol. 2008 Sep; 128(9):2156-65. PMID: 18528435.
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    387. McGrath JA. Filaggrin and the great epidermal barrier grief. Australas J Dermatol. 2008 May; 49(2):67-73; quiz 73-4. PMID: 18412804.
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    388. Fine JD, Eady RA, Bauer EA, Bauer JW, Bruckner-Tuderman L, Heagerty A, Hintner H, Hovnanian A, Jonkman MF, Leigh I, McGrath JA, Mellerio JE, Murrell DF, Shimizu H, Uitto J, Vahlquist A, Woodley D, Zambruno G. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol. 2008 Jun; 58(6):931-50. PMID: 18374450.
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    389. Wong T, Gammon L, Liu L, Mellerio JE, Dopping-Hepenstal PJ, Pacy J, Elia G, Jeffery R, Leigh IM, Navsaria H, McGrath JA. Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa. J Invest Dermatol. 2008 Sep; 128(9):2179-89. PMID: 18385758.
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    390. Rinne T, Clements SE, Lamme E, Duijf PH, Bolat E, Meijer R, Scheffer H, Rosser E, Tan TY, McGrath JA, Schalkwijk J, Brunner HG, Zhou H, van Bokhoven H. A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes. Hum Mol Genet. 2008 Jul 01; 17(13):1968-77. PMID: 18364388.
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    391. Kivisaari AK, Kallajoki M, Mirtti T, McGrath JA, Bauer JW, Weber F, K?nigov? R, Sawamura D, Sato-Matsumura KC, Shimizu H, Csik?s M, Sinemus K, Beckert W, K?h?ri VM. Transformation-specific matrix metalloproteinases (MMP)-7 and MMP-13 are expressed by tumour cells in epidermolysis bullosa-associated squamous cell carcinomas. Br J Dermatol. 2008 Apr; 158(4):778-85. PMID: 18284387.
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    392. J??skel?inen E, Miettunen J, Veijola J, McGrath JJ, Murray GK, Jones PB, Isohanni M. Associations between early development and outcome in schizophrenia--A 35-year follow-up of the Northern Finland 1966 Birth Cohort. Schizophr Res. 2008 Feb; 99(1-3):29-37. PMID: 18180143.
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    393. Arita K, South AP, Hans-Filho G, Sakuma TH, Lai-Cheong J, Clements S, Odashiro M, Odashiro DN, Hans-Neto G, Hans NR, Holder MV, Bhogal BS, Hartshorne ST, Akiyama M, Shimizu H, McGrath JA. Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis. Am J Hum Genet. 2008 Jan; 82(1):73-80. PMID: 18179886.
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    394. McGrath JA, Uitto J. The filaggrin story: novel insights into skin-barrier function and disease. Trends Mol Med. 2008 Jan; 14(1):20-7. PMID: 18068483.
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    395. Lai-Cheong JE, Arita K, McGrath JA. Genetic diseases of junctions. J Invest Dermatol. 2007 Dec; 127(12):2713-25. PMID: 18007692.
      Citations:    
    396. Lugassy J, McGrath JA, Itin P, Shemer R, Verbov J, Murphy HR, Ishida-Yamamoto A, Digiovanna JJ, Bercovich D, Karin N, Vitenshtein A, Uitto J, Bergman R, Richard G, Sprecher E. KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome. J Invest Dermatol. 2008 Jun; 128(6):1517-24. PMID: 18049449.
      Citations:    
    397. Thomas AC, Sinclair C, Mahmud N, Cullup T, Mellerio JE, Harper J, Dale BA, Turc-Carel C, Hohl D, McGrath JA, Vahlquist A, Hellstrom-Pigg M, Ganemo A, Metcalfe K, Mein CA, O'Toole EA, Kelsell DP. Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis. Br J Dermatol. 2008 Mar; 158(3):611-3. PMID: 17986308.
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    398. Chan I, Liu L, Hamada T, Sethuraman G, McGrath JA. The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1. Exp Dermatol. 2007 Nov; 16(11):881-90. PMID: 17927570.
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    399. Wessagowit V, Chunharas A, Wattanasirichaigoon D, McGrath JA. Globalization of DNA-based prenatal diagnosis for recessive dystrophic epidermolysis bullosa. Clin Exp Dermatol. 2007 Nov; 32(6):687-9. PMID: 17868393.
      Citations:    
    400. Arita K, Nanda A, Wessagowit V, Akiyama M, Alsaleh QA, McGrath JA. A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets. Br J Dermatol. 2008 Jan; 158(1):168-71. PMID: 17970811.
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    401. Clements SE, Wessagowit V, Lai-Cheong JE, Arita K, McGrath JA. Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene. J Dermatol Sci. 2008 Jan; 49(1):39-42. PMID: 17951029.
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    402. Martignago BC, Lai-Cheong JE, Liu L, McGrath JA, Cestari TF. Recurrent KIND1 (C20orf42) gene mutation, c.676insC, in a Brazilian pedigree with Kindler syndrome. Br J Dermatol. 2007 Dec; 157(6):1281-4. PMID: 17916195.
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    403. Arita K, Wessagowit V, Inamadar AC, Palit A, Fassihi H, Lai-Cheong JE, Pourreyron C, South AP, McGrath JA. Unusual molecular findings in Kindler syndrome. Br J Dermatol. 2007 Dec; 157(6):1252-6. PMID: 17854379.
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    404. Sercu S, Poumay Y, Herphelin F, Liekens J, Beek L, Zwijsen A, Wessagowit V, Huylebroeck D, McGrath JA, Merregaert J. Functional redundancy of extracellular matrix protein 1 in epidermal differentiation. Br J Dermatol. 2007 Oct; 157(4):771-5. PMID: 17711528.
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    405. Hamada T, Yasumoto S, Karashima T, Ishii N, Shimada H, Kawano Y, Imayama S, McGrath JA, Hashimoto T. Recurrent p.N767S mutation in the ATP2A2 gene in a Japanese family with haemorrhagic Darier disease clinically mimicking epidermolysis bullosa simplex with mottled pigmentation. Br J Dermatol. 2007 Sep; 157(3):605-8. PMID: 17635506.
      Citations:    
    406. Wong T, McGrath JA, Navsaria H. The role of fibroblasts in tissue engineering and regeneration. Br J Dermatol. 2007 Jun; 156(6):1149-55. PMID: 17535219.
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    407. Pourreyron C, Cox G, Mao X, Volz A, Baksh N, Wong T, Fassihi H, Arita K, O'Toole EA, Ocampo-Candiani J, Chen M, Hart IR, Bruckner-Tuderman L, Salas-Alanis JC, McGrath JA, Leigh IM, South AP. Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression. J Invest Dermatol. 2007 Oct; 127(10):2438-44. PMID: 17495952.
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    408. Ee HL, Liu L, Goh CL, McGrath JA. Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa. J Am Acad Dermatol. 2007 May; 56(5 Suppl):S77-81. PMID: 17434045.
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    409. Lai-Cheong JE, Liu L, Sethuraman G, Kumar R, Sharma VK, Reddy SR, Vahlquist A, Pather S, Arita K, Wessagowit V, McGrath JA. Five new homozygous mutations in the KIND1 gene in Kindler syndrome. J Invest Dermatol. 2007 Sep; 127(9):2268-70. PMID: 17460733.
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    410. Uitto J, Richard G, McGrath JA. Diseases of epidermal keratins and their linker proteins. Exp Cell Res. 2007 Jun 10; 313(10):1995-2009. PMID: 17531221.
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    411. Arita K, Jacyk WK, Wessagowit V, van Rensburg EJ, Chaplin T, Mein CA, Akiyama M, Shimizu H, Happle R, McGrath JA. The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1. J Invest Dermatol. 2007 Feb; 127(2):490-3. PMID: 16977323.
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    412. Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, Hennies HC, Indelman M, Bercovich D, Uitto J, Bergman R, McGrath JA, Richard G, Sprecher E. Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. Am J Hum Genet. 2006 Oct; 79(4):724-30. PMID: 16960809.
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    413. Liao H, Zhao Y, Baty DU, McGrath JA, Mellerio JE, McLean WH. A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease. J Invest Dermatol. 2007 Feb; 127(2):298-300. PMID: 16917491.
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    414. Ersoy-Evans S, Erkin G, Fassihi H, Chan I, Paller AS, S?r?c? S, McGrath JA. Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1. J Am Acad Dermatol. 2006 Jul; 55(1):157-61. PMID: 16781314.
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    415. Liu L, Choy YS, Wessagowit V, Ozoemena L, Dopping-Hepenstal PJ, Fassihi H, McGrath JA. Single nucleotide polymorphism in a commonly utilized LAMB3 primer sequence: implications for mutation detection and haplotype analysis in junctional epidermolysis bullosa. J Dermatol Sci. 2006 Oct; 44(1):48-51. PMID: 16814527.
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    416. Fassihi H, Lu L, Wessagowit V, Ozoemena LC, Jones CA, Dopping-Hepenstal PJ, Foster L, Atherton DJ, Mellerio JE, McGrath JA. Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities. J Invest Dermatol. 2006 Sep; 126(9):2039-43. PMID: 16710310.
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    417. Has C, Wessagowit V, Pascucci M, Baer C, Didona B, Wilhelm C, Pedicelli C, Locatelli A, Kohlhase J, Ashton GH, Tadini G, Zambruno G, Bruckner-Tuderman L, McGrath JA, Castiglia D. Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene. J Invest Dermatol. 2006 Aug; 126(8):1776-83. PMID: 16675959.
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    418. Burch JM, Fassihi H, Jones CA, Mengshol SC, Fitzpatrick JE, McGrath JA. Kindler syndrome: a new mutation and new diagnostic possibilities. Arch Dermatol. 2006 May; 142(5):620-4. PMID: 16702500.
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    419. Fujimoto N, Terlizzi J, Aho S, Brittingham R, Fertala A, Oyama N, McGrath JA, Uitto J. Extracellular matrix protein 1 inhibits the activity of matrix metalloproteinase 9 through high-affinity protein/protein interactions. Exp Dermatol. 2006 Apr; 15(4):300-7. PMID: 16512877.
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    420. McGrath JA, Mellerio JE. Epidermolysis bullosa. Br J Hosp Med (Lond). 2006 Apr; 67(4):188-91. PMID: 16681305.
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    421. Fassihi H, Wong T, Wessagowit V, McGrath JA, Mellerio JE. Target proteins in inherited and acquired blistering skin disorders. Clin Exp Dermatol. 2006 Mar; 31(2):252-9. PMID: 16487105.
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    422. Fassihi H, Grace J, Lashwood A, Whittock NV, Braude PR, Pickering SJ, McGrath JA. Preimplantation genetic diagnosis of skin fragility-ectodermal dysplasia syndrome. Br J Dermatol. 2006 Mar; 154(3):546-50. PMID: 16445790.
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    423. Fassihi H, Renwick PJ, Black C, McGrath JA. Single cell PCR amplification of microsatellites flanking the COL7A1 gene and suitability for preimplantation genetic diagnosis of Hallopeau-Siemens recessive dystrophic epidermolysis bullosa. J Dermatol Sci. 2006 Jun; 42(3):241-8. PMID: 16500083.
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    424. Fassihi H, Eady RA, Mellerio JE, Ashton GH, Dopping-Hepenstal PJ, Denyer JE, Nicolaides KH, Rodeck CH, McGrath JA. Prenatal diagnosis for severe inherited skin disorders: 25 years' experience. Br J Dermatol. 2006 Jan; 154(1):106-13. PMID: 16403102.
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    425. Salas-Alanis JC, McGrath JA. [2470insG, represents the commonest mutation in Mexican patients with dystrophic bullous epidermolysis. A study of 21 families]. Gac Med Mex. 2006 Jan-Feb; 142(1):29-34. PMID: 16548289.
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    426. McGrath JA. Inherited disorders of desmosomes. Australas J Dermatol. 2005 Nov; 46(4):221-9. PMID: 16197419.
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    427. Fassihi H, Diba VC, Wessagowit V, Dopping-Hepenstal PJ, Jones CA, Burrows NP, McGrath JA. Transient bullous dermolysis of the newborn in three generations. Br J Dermatol. 2005 Nov; 153(5):1058-63. PMID: 16225626.
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    428. Chew AL, Chan I, McGrath JA, Atherton DJ. Infantile acquired zinc deficiency resembling acrodermatitis enteropathica. Clin Exp Dermatol. 2005 Sep; 30(5):594-5. PMID: 16045711.
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    429. Fassihi H, Wessagowit V, Jones C, Dopping-Hepenstal P, Denyer J, Mellerio JE, Clark S, McGrath JA. Neonatal diagnosis of Kindler syndrome. J Dermatol Sci. 2005 Sep; 39(3):183-5. PMID: 16051467.
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    430. Fujimoto N, Terlizzi J, Brittingham R, Fertala A, McGrath JA, Uitto J. Extracellular matrix protein 1 interacts with the domain III of fibulin-1C and 1D variants through its central tandem repeat 2. Biochem Biophys Res Commun. 2005 Aug 12; 333(4):1327-33. PMID: 15990087.
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    431. Wessagowit V, Nalla VK, Rogan PK, McGrath JA. Normal and abnormal mechanisms of gene splicing and relevance to inherited skin diseases. J Dermatol Sci. 2005 Nov; 40(2):73-84. PMID: 16054339.
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    432. McGrath JA, Wessagowit V. Human hair abnormalities resulting from inherited desmosome gene mutations. Keio J Med. 2005 Jun; 54(2):72-9. PMID: 16077256.
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    433. Ozanic Bulic S, Fassihi H, Mellerio JE, McGrath JA, Atherton DJ. Thalidomide in the management of epidermolysis bullosa pruriginosa. Br J Dermatol. 2005 Jun; 152(6):1332-4. PMID: 15949003.
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    434. Lai Cheong JE, Wessagowit V, McGrath JA. Molecular abnormalities of the desmosomal protein desmoplakin in human disease. Clin Exp Dermatol. 2005 May; 30(3):261-6. PMID: 15807686.
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    435. Sethuraman G, Fassihi H, Ashton GH, Bansal A, Kabra M, Sharma VK, McGrath JA. An Indian child with Kindler syndrome resulting from a new homozygous nonsense mutation (C468X) in the KIND1 gene. Clin Exp Dermatol. 2005 May; 30(3):286-8. PMID: 15807691.
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    436. Wessagowit V, Kim SC, Woong Oh S, McGrath JA. Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: when missense doesn't make sense. J Invest Dermatol. 2005 Apr; 124(4):863-6. PMID: 15816848.
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    437. Kowalewski C, Kozlowska A, Chan I, G?rska M, Wozniak K, Jablonska S, McGrath JA. Three-dimensional imaging reveals major changes in skin microvasculature in lipoid proteinosis and lichen sclerosus. J Dermatol Sci. 2005 Jun; 38(3):215-24. PMID: 15927815.
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    438. Chan I, McGrath JA, Kivirikko S. Rapp-Hodgkin syndrome and the tail of p63. Clin Exp Dermatol. 2005 Mar; 30(2):183-6. PMID: 15725251.
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    439. Fassihi H, Ashton GH, Denyer J, Mellerio JE, Mason G, McGrath JA. Prenatal diagnosis of Herlitz junctional epidermolysis bullosa in nonidentical twins. Clin Exp Dermatol. 2005 Mar; 30(2):180-2. PMID: 15725250.
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    440. Ishida-Yamamoto A, Deraison C, Bonnart C, Bitoun E, Robinson R, O'Brien TJ, Wakamatsu K, Ohtsubo S, Takahashi H, Hashimoto Y, Dopping-Hepenstal PJ, McGrath JA, Iizuka H, Richard G, Hovnanian A. LEKTI is localized in lamellar granules, separated from KLK5 and KLK7, and is secreted in the extracellular spaces of the superficial stratum granulosum. J Invest Dermatol. 2005 Feb; 124(2):360-6. PMID: 15675955.
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    441. Fassihi H, Wessagowit V, Ashton GH, Moss C, Ward R, Denyer J, Mellerio JE, McGrath JA. Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa. Clin Exp Dermatol. 2005 Jan; 30(1):71-4. PMID: 15663509.
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    442. Chan I, Wong T, Martinez-Mir A, Christiano AM, McGrath JA. Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer. Clin Exp Dermatol. 2005 Jan; 30(1):75-8. PMID: 15663510.
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    443. Chan I, Harper JI, Mellerio JE, McGrath JA. ADULT ectodermal dysplasia syndrome resulting from the missense mutation R298Q in the p63 gene. Clin Exp Dermatol. 2004 Nov; 29(6):669-72. PMID: 15550149.
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    444. Wessagowit V, Mallipeddi R, McGrath JA, South AP. Altered expression of L-arginine metabolism pathway genes in chronic wounds in recessive dystrophic epidermolysis bullosa. Clin Exp Dermatol. 2004 Nov; 29(6):664-8. PMID: 15550148.
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    445. Cooper HL, Cook IS, Theaker JM, Mallipeddi R, McGrath J, Friedmann P, Healy E. Expression and glycosylation of MUC1 in epidermolysis bullosa-associated and sporadic cutaneous squamous cell carcinomas. Br J Dermatol. 2004 Sep; 151(3):540-5. PMID: 15377338.
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    446. Mallipeddi R, Keane FM, McGrath JA, Mayou BJ, Eady RA. Increased risk of squamous cell carcinoma in junctional epidermolysis bullosa. J Eur Acad Dermatol Venereol. 2004 Sep; 18(5):521-6. PMID: 15324385.
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    447. Chan I, Oyama N, Neill SM, Wojnarowska F, Black MM, McGrath JA. Characterization of IgG autoantibodies to extracellular matrix protein 1 in lichen sclerosus. Clin Exp Dermatol. 2004 Sep; 29(5):499-504. PMID: 15347336.
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    448. Chan I, Bingewar G, Patil K, Nayak C, Wadhwa SL, McGrath JA. An Indian child with lipoid proteinosis resulting from a recurrent frameshift mutation (507delT) in the extracellular matrix protein 1 gene. Br J Dermatol. 2004 Sep; 151(3):726-7. PMID: 15377379.
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    449. Chan I, Sethuraman G, Sharma VK, Bruning E, Hamada T, McGrath JA. Molecular basis of lipoid proteinosis in two Indian siblings. J Dermatol. 2004 Sep; 31(9):764-6. PMID: 15628326.
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    450. Van Hougenhouck-Tulleken W, Chan I, Hamada T, Thornton H, Jenkins T, McLean WH, McGrath JA, Ramsay M. Clinical and molecular characterization of lipoid proteinosis in Namaqualand, South Africa. Br J Dermatol. 2004 Aug; 151(2):413-23. PMID: 15327549.
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    451. Chan I, South AP, McGrath JA, Oyama N, Bhogal BS, Black MM, Hamada T. Rapid diagnosis of lipoid proteinosis using an anti-extracellular matrix protein 1 (ECM1) antibody. J Dermatol Sci. 2004 Aug; 35(2):151-3. PMID: 15265527.
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    452. Oyama N, Chan I, Neill SM, South AP, Wojnarowska F, Kawakami Y, D'Cruz D, Mepani K, Hughes GJ, Bhogal BS, Kaneko F, Black MM, McGrath JA. Development of antigen-specific ELISA for circulating autoantibodies to extracellular matrix protein 1 in lichen sclerosus. J Clin Invest. 2004 Jun; 113(11):1550-9. PMID: 15173881.
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    453. Mallipeddi R, Wessagowit V, South AP, Robson AM, Orchard GE, Eady RA, McGrath JA. Reduced expression of insulin-like growth factor-binding protein-3 (IGFBP-3) in Squamous cell carcinoma complicating recessive dystrophic epidermolysis bullosa. J Invest Dermatol. 2004 May; 122(5):1302-9. PMID: 15140235.
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    454. McGrath JA. Translational benefits from research on rare genodermatoses. Australas J Dermatol. 2004 May; 45(2):89-93. PMID: 15068453.
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    455. Wan H, Dopping-Hepenstal PJ, Gratian MJ, Stone MG, Zhu G, Purkis PE, South AP, Keane F, Armstrong DK, Buxton RS, McGrath JA, Eady RA. Striate palmoplantar keratoderma arising from desmoplakin and desmoglein 1 mutations is associated with contrasting perturbations of desmosomes and the keratin filament network. Br J Dermatol. 2004 May; 150(5):878-91. PMID: 15149499.
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    456. Ashton GH, McLean WH, South AP, Oyama N, Smith FJ, Al-Suwaid R, Al-Ismaily A, Atherton DJ, Harwood CA, Leigh IM, Moss C, Didona B, Zambruno G, Patrizi A, Eady RA, McGrath JA. Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome. J Invest Dermatol. 2004 Jan; 122(1):78-83. PMID: 14962093.
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    457. McGrath JA. Keratinocyte heal thyself: a new form of "natural gene therapy". J Invest Dermatol. 2004 Jan; 122(1):x-xi. PMID: 14962118.
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    458. McGrath JA. Biologic lessons from mutations in the Kreb's cycle enzyme, fumarate hydratase. J Invest Dermatol. 2003 Oct; 121(4):vii. PMID: 14632173.
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    459. Mallipeddi R, Bleck O, Mellerio JE, Ashton GH, Eady RA, McGrath JA. Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa. Br J Dermatol. 2003 Oct; 149(4):810-8. PMID: 14616374.
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    460. Chan I, El-Zurghany A, Zendah B, Benghazil M, Oyama N, Hamada T, McGrath JA. Molecular basis of lipoid proteinosis in a Libyan family. Clin Exp Dermatol. 2003 Sep; 28(5):545-8. PMID: 12950350.
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    461. Hanks S, Adams S, Douglas J, Arbour L, Atherton DJ, Balci S, Bode H, Campbell ME, Feingold M, Keser G, Kleijer W, Mancini G, McGrath JA, Muntoni F, Nanda A, Teare MD, Warman M, Pope FM, Superti-Furga A, Futreal PA, Rahman N. Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet. 2003 Oct; 73(4):791-800. PMID: 14508707.
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    462. Wan H, Dopping-Hepenstal PJ, Gratian MJ, Stone MG, McGrath JA, Eady RA. Desmosomes exhibit site-specific features in human palm skin. Exp Dermatol. 2003 Aug; 12(4):378-88. PMID: 12930293.
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    463. McLean WH, Irvine AD, Hamill KJ, Whittock NV, Coleman-Campbell CM, Mellerio JE, Ashton GS, Dopping-Hepenstal PJ, Eady RA, Jamil T, Phillips R, Shabbir SG, Haroon TS, Khurshid K, Moore JE, Page B, Darling J, Atherton DJ, Van Steensel MA, Munro CS, Smith FJ, McGrath JA, Phillips RJ. An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. Hum Mol Genet. 2003 Sep 15; 12(18):2395-409. PMID: 12915477.
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    464. Oyama N, Chan I, Neill SM, Hamada T, South AP, Wessagowit V, Wojnarowska F, D'Cruz D, Hughes GJ, Black MM, McGrath JA. Autoantibodies to extracellular matrix protein 1 in lichen sclerosus. Lancet. 2003 Jul 12; 362(9378):118-23. PMID: 12867112.
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    465. South AP, Wan H, Stone MG, Dopping-Hepenstal PJ, Purkis PE, Marshall JF, Leigh IM, Eady RA, Hart IR, McGrath JA. Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability. J Cell Sci. 2003 Aug 15; 116(Pt 16):3303-14. PMID: 12840072.
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    466. McMillan JR, Haftek M, Akiyama M, South AP, Perrot H, McGrath JA, Eady RA, Shimizu H. Alterations in desmosome size and number coincide with the loss of keratinocyte cohesion in skin with homozygous and heterozygous defects in the desmosomal protein plakophilin 1. J Invest Dermatol. 2003 Jul; 121(1):96-103. PMID: 12839569.
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    467. Siegel DH, Ashton GH, Penagos HG, Lee JV, Feiler HS, Wilhelmsen KC, South AP, Smith FJ, Prescott AR, Wessagowit V, Oyama N, Akiyama M, Al Aboud D, Al Aboud K, Al Githami A, Al Hawsawi K, Al Ismaily A, Al-Suwaid R, Atherton DJ, Caputo R, Fine JD, Frieden IJ, Fuchs E, Haber RM, Harada T, Kitajima Y, Mallory SB, Ogawa H, Sahin S, Shimizu H, Suga Y, Tadini G, Tsuchiya K, Wiebe CB, Wojnarowska F, Zaghloul AB, Hamada T, Mallipeddi R, Eady RA, McLean WH, McGrath JA, Epstein EH. Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. Am J Hum Genet. 2003 Jul; 73(1):174-87. PMID: 12789646.
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    468. Hamada T, Wessagowit V, South AP, Ashton GH, Chan I, Oyama N, Siriwattana A, Jewhasuchin P, Charuwichitratana S, Thappa DM, Jeevankumar B, Lenane P, Krafchik B, Kulthanan K, Shimizu H, Kaya TI, Erdal ME, Paradisi M, Paller AS, Seishima M, Hashimoto T, McGrath JA. Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation. J Invest Dermatol. 2003 Mar; 120(3):345-50. PMID: 12603844.
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    469. Gardella R, Castiglia D, Posteraro P, Bernardini S, Zoppi N, Paradisi M, Tadini G, Barlati S, McGrath JA, Zambruno G, Colombi M. Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa. J Invest Dermatol. 2002 Dec; 119(6):1456-62. PMID: 12485454.
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    470. Hamada T, Chan I, Willoughby CE, Goudie DR, McGrath JA. Common mutations in Arg304 of the p63 gene in ectrodactyly, ectodermal dysplasia, clefting syndrome: lack of genotype-phenotype correlation and implications for mutation detection strategies. J Invest Dermatol. 2002 Nov; 119(5):1202-3. PMID: 12445213.
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    471. Morris SD, Mallipeddi R, Oyama N, Gratian MJ, Harman KE, Bhogal BS, Black MM, Eady RA, Hashimoto T, McGrath JA. Psoriasis bullosa acquisita. Clin Exp Dermatol. 2002 Nov; 27(8):665-9. PMID: 12472542.
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    472. Sprecher E, Itin P, Whittock NV, McGrath JA, Meyer R, DiGiovanna JJ, Bale SJ, Uitto J, Richard G. Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes. J Invest Dermatol. 2002 Sep; 119(3):692-8. PMID: 12230514.
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    473. Whittock NV, Smith FJ, Wan H, Mallipeddi R, Griffiths WA, Dopping-Hepenstal P, Ashton GH, Eady RA, McLean WH, McGrath JA. Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. J Invest Dermatol. 2002 May; 118(5):838-44. PMID: 11982762.
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    474. O'Driscoll J, Muston GC, McGrath JA, Lam HM, Ashworth J, Christiano AM. A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome. Clin Exp Dermatol. 2002 May; 27(3):243-6. PMID: 12072018.
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    475. Hamada T, South AP, Mitsuhashi Y, Kinebuchi T, Bleck O, Ashton GH, Hozumi Y, Suzuki T, Hashimoto T, Eady RA, McGrath JA. Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1. Exp Dermatol. 2002 Apr; 11(2):107-14. PMID: 11994137.
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    476. Ashton GH, McGrath JA, South AP. Strategies to identify disease genes. Drugs Today (Barc). 2002 Apr; 38(4):235-44. PMID: 12532192.
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    477. Hamada T, McLean WH, Ramsay M, Ashton GH, Nanda A, Jenkins T, Edelstein I, South AP, Bleck O, Wessagowit V, Mallipeddi R, Orchard GE, Wan H, Dopping-Hepenstal PJ, Mellerio JE, Whittock NV, Munro CS, van Steensel MA, Steijlen PM, Ni J, Zhang L, Hashimoto T, Eady RA, McGrath JA. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Genet. 2002 Apr 01; 11(7):833-40. PMID: 11929856.
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    478. Reyes ML, Cattani A, Gajardo H, Garc?a C, McGrath JA, Palisson F. Bone metabolism in children with epidermolysis bullosa. J Pediatr. 2002 Apr; 140(4):467-9. PMID: 12006964.
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    479. Whittock NV, Wan H, Morley SM, Garzon MC, Kristal L, Hyde P, McLean WH, Pulkkinen L, Uitto J, Christiano AM, Eady RA, McGrath JA. Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. J Invest Dermatol. 2002 Feb; 118(2):232-8. PMID: 11841538.
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    480. Millard TP, Ashton GH, Kondeatis E, Vaughan RW, Hughes GR, Khamashta MA, Hawk JL, McGregor JM, McGrath JA. Human Ro60 (SSA2) genomic organization and sequence alterations, examined in cutaneous lupus erythematosus. Br J Dermatol. 2002 Feb; 146(2):210-5. PMID: 11903229.
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    481. South AP, Ashton GH, Willoughby C, Ellis IH, Bleck O, Hamada T, Mannion G, Wessagowit V, Hashimoto T, Eady RA, McGrath JA. EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome: heterozygous mutation in the p63 gene (R279H) and DNA-based prenatal diagnosis. Br J Dermatol. 2002 Feb; 146(2):216-20. PMID: 11903230.
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    482. Sorelli P, Gratian MJ, Bhogal BS, McGrath JA. Immunogold electron microscopy using skin in Michel's medium intended for immunofluorescence analysis. Clin Dermatol. 2001 Sep-Oct; 19(5):638-41. PMID: 11604312.
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    483. Bleck O, Ashton GH, Mallipeddi R, South AP, Whittock NV, McLean WH, Atherton DJ, McGrath JA. Genomic localization, organization and amplification of the human zinc transporter protein gene, ZNT4, and exclusion as a candidate gene in different clinical variants of acrodermatitis enteropathica. Arch Dermatol Res. 2001 Aug; 293(8):392-6. PMID: 11686514.
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    484. Whittock NV, Ashton GH, Griffiths WA, Eady RA, McGrath JA. New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens. Br J Dermatol. 2001 Aug; 145(2):330-5. PMID: 11531804.
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    485. Allen M, Ishida-Yamamoto A, McGrath J, Davison S, Iizuka H, Simon M, Guerrin M, Hayday A, Vaughan R, Serre G, Trembath R, Barker J. Corneodesmosin expression in psoriasis vulgaris differs from normal skin and other inflammatory skin disorders. Lab Invest. 2001 Jul; 81(7):969-76. PMID: 11454986.
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    486. Thornhill AR, McGrath JA, Eady RA, Braude PR, Handyside AH. A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis. Prenat Diagn. 2001 Jun; 21(6):490-7. PMID: 11438956.
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    487. Bleck O, McGrath JA, South AP. Searching for candidate genes in the new millennium. Clin Exp Dermatol. 2001 May; 26(3):279-83. PMID: 11422176.
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    488. McGrath JA. Keratinocyte adhesion and the missing link: from Dowling-Meara to Hay-Wells. St John's Hospital Dermatological Society Annual Oration 2000. Clin Exp Dermatol. 2001 May; 26(3):296-304. PMID: 11422179.
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    489. Hunt DM, Rickman L, Whittock NV, Eady RA, Simrak D, Dopping-Hepenstal PJ, Stevens HP, Armstrong DK, Hennies HC, K?ster W, Hughes AE, Arnemann J, Leigh IM, McGrath JA, Kelsell DP, Buxton RS. Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma. Eur J Hum Genet. 2001 Mar; 9(3):197-203. PMID: 11313759.
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    490. Ashton GH, Sorelli P, Mellerio JE, Keane FM, Eady RA, McGrath JA. Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia. Br J Dermatol. 2001 Feb; 144(2):408-14. PMID: 11251584.
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    491. McGrath JA, Duijf PH, Doetsch V, Irvine AD, de Waal R, Vanmolkot KR, Wessagowit V, Kelly A, Atherton DJ, Griffiths WA, Orlow SJ, van Haeringen A, Ausems MG, Yang A, McKeon F, Bamshad MA, Brunner HG, Hamel BC, van Bokhoven H. Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. Hum Mol Genet. 2001 Feb 01; 10(3):221-9. PMID: 11159940.
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    492. Dharma B, Moss C, McGrath JA, Mellerio JE, Ilchyshyn A. Dominant dystrophic epidermolysis bullosa presenting as familial nail dystrophy. Clin Exp Dermatol. 2001 Jan; 26(1):93-6. PMID: 11260188.
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    493. Wessagowit V, Ashton GH, Mohammedi R, Salas-Alanis JC, Denyer JE, Mellerio JE, Eady RA, McGrath JA. Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1. Clin Exp Dermatol. 2001 Jan; 26(1):97-9. PMID: 11260189.
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    494. McGrath JA, Eady RA. Recent advances in the molecular basis of inherited skin diseases. Adv Genet. 2001; 43:1-32. PMID: 11037297.
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    495. McGrath JA. Gene mutations, great expectations. Clin Dermatol. 2001 Jan-Feb; 19(1):59-64. PMID: 11369489.
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    496. Thornhill AR, Pickering SJ, Whittock NV, Caller J, Andritsos V, Bickerstaff HE, Handyside AH, Eady RA, Braude PR, McGrath JA. Preimplantation genetic diagnosis of compound heterozygous mutations leading to ablation of plakophilin-1 (PKP1) and resulting in skin fragility ectodermal dysplasia syndrome: a case report. Prenat Diagn. 2000 Dec; 20(13):1055-62. PMID: 11180229.
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    497. Ashton GH, Eady RA, McGrath JA. Prenatal diagnosis for inherited skin diseases. Clin Dermatol. 2000 Nov-Dec; 18(6):643-8. PMID: 11173198.
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    498. Whittock NV, Coleman CM, McLean WH, Ashton GH, Acland KM, Eady RA, McGrath JA. The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21. J Invest Dermatol. 2000 Oct; 115(4):694-8. PMID: 10998145.
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    499. Whittock NV, Eady RA, McGrath JA. Genomic organization and amplification of the human plakoglobin gene (JUP). Exp Dermatol. 2000 Oct; 9(5):323-6. PMID: 11016852.
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    500. Whittock NV, Hunt DM, Rickman L, Malhi S, Vogazianou AP, Dawson LF, Eady RA, Buxton RS, McGrath JA. Genomic organization and amplification of the human desmosomal cadherin genes DSC1 and DSC3, encoding desmocollin types 1 and 3. Biochem Biophys Res Commun. 2000 Sep 24; 276(2):454-60. PMID: 11027496.
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    501. Whittock NV, Haftek M, Angoulvant N, Wolf F, Perrot H, Eady RA, McGrath JA. Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome. J Invest Dermatol. 2000 Sep; 115(3):368-74. PMID: 10951270.
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    502. Whittock NV, Eady RA, McGrath JA. Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5. Biochem Biophys Res Commun. 2000 Jul 21; 274(1):149-52. PMID: 10903910.
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    503. Olague-Marchan M, Twining SS, Hacker MK, McGrath JA, Diaz LA, Giudice GJ. A disease-associated glycine substitution in BP180 (type XVII collagen) leads to a local destabilization of the major collagen triple helix. Matrix Biol. 2000 Jul; 19(3):223-33. PMID: 10936447.
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    504. Wessagowit V, Mellerio JE, Pembroke AC, McGrath JA. Heterozygous germline missense mutation in the p63 gene underlying EEC syndrome. Clin Exp Dermatol. 2000 Jul; 25(5):441-3. PMID: 11012604.
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    505. Fine JD, Eady RA, Bauer EA, Briggaman RA, Bruckner-Tuderman L, Christiano A, Heagerty A, Hintner H, Jonkman MF, McGrath J, McGuire J, Moshell A, Shimizu H, Tadini G, Uitto J. Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa. J Am Acad Dermatol. 2000 Jun; 42(6):1051-66. PMID: 10827412.
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    506. Salas-Alanis JC, Amaya-Guerra M, McGrath JA. The molecular basis of dystrophic epidermolysis bullosa in Mexico. Int J Dermatol. 2000 Jun; 39(6):436-42. PMID: 10944088.
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    507. Inoue M, Tamai K, Shimizu H, Owaribe K, Nakama T, Hashimoto T, McGrath JA. A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies Non-Herlitz junctional epidermolysis bullosa without pyloric atresia? J Invest Dermatol. 2000 May; 114(5):1061-4. PMID: 10792571.
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    508. Whittock NV, Eady RA, McGrath JA. Genomic organization and amplification of the human keratin 15 and keratin 19 genes. Biochem Biophys Res Commun. 2000 Jan 07; 267(1):462-5. PMID: 10623642.
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    509. Whittock NV, Ashton GH, Dopping-Hepenstal PJ, Gratian MJ, Keane FM, Eady RA, McGrath JA. Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. J Invest Dermatol. 1999 Dec; 113(6):940-6. PMID: 10594734.
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    510. McGrath JA. A novel genodermatosis caused by mutations in plakophilin 1, a structural component of desmosomes. J Dermatol. 1999 Nov; 26(11):764-9. PMID: 10635620.
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    511. Whittock NV, Ashton GH, Mohammedi R, Mellerio JE, Mathew CG, Abbs SJ, Eady RA, McGrath JA. Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis. J Invest Dermatol. 1999 Oct; 113(4):673-86. PMID: 10504458.
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    512. McGrath JA, Ashton GH, Mellerio JE, Salas-Alanis JC, Swensson O, McMillan JR, Eady RA. Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations. J Invest Dermatol. 1999 Sep; 113(3):314-21. PMID: 10469327.
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    513. Harman KE, Bhogal BS, Eady RA, McGrath JA, Black MM. Defining target antigens in linear IgA disease using skin from subjects with inherited epidermolysis bullosa as a substrate for indirect immunofluorescence microscopy. Br J Dermatol. 1999 Sep; 141(3):475-80. PMID: 10583051.
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    514. Ahmad W, Nomura K, McGrath JA, Hashimoto I, Christiano AM. A homozygous nonsense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia. J Invest Dermatol. 1999 Aug; 113(2):281-3. PMID: 10469319.
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    515. van Steensel M, Smith FJ, Steijlen PM, Kluijt I, Stevens HP, Messenger A, Kremer H, Dunnill MG, Kennedy C, Munro CS, Doherty VR, McGrath JA, Covello SP, Coleman CM, Uitto J, McLean WH. The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing. Am J Hum Genet. 1999 Aug; 65(2):413-9. PMID: 10417283.
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    516. Frank J, McGrath JA, Poh-Fitzpatrick MB, Hawk JL, Christiano AM. Mutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyria. Clin Exp Dermatol. 1999 Jul; 24(4):296-301. PMID: 10457135.
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    517. McGrath JA. Hereditary diseases of desmosomes. J Dermatol Sci. 1999 Jun; 20(2):85-91. PMID: 10379701.
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    518. Mellerio JE, Ashton GH, Mohammedi R, Lyon CC, Kirby B, Harman KE, Salas-Alanis JC, Atherton DJ, Harrison PV, Griffiths WA, Black MM, Eady RA, McGrath JA. Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa. J Invest Dermatol. 1999 Jun; 112(6):984-7. PMID: 10383749.
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    519. Tamai K, Murai T, Mayama M, Kon A, Nomura K, Sawamura D, Hanada K, Hashimoto I, Shimizu H, Masunaga T, Nishikawa T, Mitsuhashi Y, Ishida-Yamamoto A, Ikeda S, Ogawa H, McGrath JA, Pulkkinen L, Uitto J. Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa: positional effects of premature termination codon mutations on clinical severity. Japanese Collaborative Study Group on Epidermolysis Bullosa. J Invest Dermatol. 1999 Jun; 112(6):991-3. PMID: 10383751.
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    520. Ashton GH, Mellerio JE, Dunnill MG, Milana G, Mayou BJ, Carrera J, McGrath JA, Eady RA. Recurrent molecular abnormalities in type VII collagen in Southern Italian patients with recessive dystrophic epidermolysis bullosa. Clin Exp Dermatol. 1999 May; 24(3):232-5. PMID: 10354186.
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    521. McGrath JA. Dyskeratosis congenita: new clinical and molecular insights into ribosome function. Lancet. 1999 Apr 10; 353(9160):1204-5. PMID: 10217077.
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    522. Salas-Alanis JC, Mellerio JE, Ashton GH, McGrath JA. Frequency of the CCR5 gene 32-basepair deletion in Hispanic Mexicans. Clin Exp Dermatol. 1999 Mar; 24(2):127-9. PMID: 10233669.
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    523. McGrath JA, Hoeger PH, Christiano AM, McMillan JR, Mellerio JE, Ashton GH, Dopping-Hepenstal PJ, Lake BD, Leigh IM, Harper JI, Eady RA. Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1. Br J Dermatol. 1999 Feb; 140(2):297-307. PMID: 10233227.
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    524. Mellerio JE, Salas-Alanis JC, Amaya-Guerra M, Tamez E, Ashton GH, Mohammedi R, Eady RA, McGrath JA. A recurrent frameshift mutation in exon 19 of the type VII collagen gene (COL7A1) in Mexican patients with recessive dystrophic epidermolysis bullosa. Exp Dermatol. 1999 Feb; 8(1):22-9. PMID: 10206718.
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    525. Basarab T, Ashton GH, Menag? HP, McGrath JA. Sequence variations in the flavin-containing mono-oxygenase 3 gene (FMO3) in fish odour syndrome. Br J Dermatol. 1999 Jan; 140(1):164-7. PMID: 10215790.
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    526. Mohammedi R, Mellerio JE, Ashton GH, Eady RA, McGrath JA. A recurrent COL7A1 mutation, R2814X, in British patients with recessive dystrophic epidermolysis bullosa. Clin Exp Dermatol. 1999 Jan; 24(1):37-9. PMID: 10233647.
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    527. Cserhalmi-Friedman PB, McGrath JA, Mellerio JE, Romero R, Salas-Alanis JC, Paller AS, Dietz HC, Christiano AM. Restoration of open reading frame resulting from skipping of an exon with an internal deletion in the COL7A1 gene. Lab Invest. 1998 Dec; 78(12):1483-92. PMID: 9881948.
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    528. Mellerio JE, Pulkkinen L, McMillan JR, Lake BD, Horn HM, Tidman MJ, Harper JI, McGrath JA, Uitto J, Eady RA. Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease. Br J Dermatol. 1998 Nov; 139(5):862-71. PMID: 9892956.
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    529. Mellerio JE, Salas-Alanis JC, Talamantes ML, Horn H, Tidman MJ, Ashton GH, Eady RA, McGrath JA. A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa. Br J Dermatol. 1998 Oct; 139(4):730-7. PMID: 9892921.
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    530. Ahmad W, Irvine AD, Lam H, Buckley C, Bingham EA, Panteleyev AA, Ahmad M, McGrath JA, Christiano AM. A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers. Am J Hum Genet. 1998 Oct; 63(4):984-91. PMID: 9758627.
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    531. Mellerio JE, Eady RA, Atherton DJ, Lake BD, McGrath JA. E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa. Br J Dermatol. 1998 Aug; 139(2):325-31. PMID: 9767254.
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    532. Pulkkinen L, Jonkman MF, McGrath JA, Kuijpers A, Paller AS, Uitto J. LAMB3 mutations in generalized atrophic benign epidermolysis bullosa: consequences at the mRNA and protein levels. Lab Invest. 1998 Jul; 78(7):859-67. PMID: 9690563.
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    533. Salas-Alanis JC, Mellerio JE, Amaya-Guerra M, Ashton GH, Eady RA, McGrath JA. Frameshift mutations in the type VII collagen gene (COL7A1) in five Mexican cousins with recessive dystrophic epidermolysis bullosa. Br J Dermatol. 1998 May; 138(5):852-8. PMID: 9666834.
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    534. Mellerio JE, Denyer JE, Atherton DJ, Eady RA, McGrath JA. Prognostic implications of determining 180 kDa bullous pemphigoid antigen (BPAG2) gene/protein pathology in neonatal junctional epidermolysis bullosa. Br J Dermatol. 1998 Apr; 138(4):661-6. PMID: 9640376.
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    535. McGrath JA, Handyside AH. Preimplantation genetic diagnosis of severe inherited skin diseases. Exp Dermatol. 1998 Apr-Jun; 7(2-3):65-72. PMID: 9583745.
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    536. Frank J, McGrath J, Lam H, Graham RM, Hawk JL, Christiano AM. Homozygous variegate porphyria: identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband. J Invest Dermatol. 1998 Apr; 110(4):452-5. PMID: 9540991.
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    537. Darling TN, Yee C, Koh B, McGrath JA, Bauer JW, Uitto J, Hintner H, Yancey KB. Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa. J Invest Dermatol. 1998 Feb; 110(2):165-9. PMID: 9457913.
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    538. McMillan JR, McGrath JA, Tidman MJ, Eady RA. Hemidesmosomes show abnormal association with the keratin filament network in junctional forms of epidermolysis bullosa. J Invest Dermatol. 1998 Feb; 110(2):132-7. PMID: 9457907.
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    539. Takizawa Y, Shimizu H, Pulkkinen L, Hiraoka Y, McGrath JA, Suzumori K, Aiso S, Uitto J, Nishikawa T. Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing. J Invest Dermatol. 1998 Feb; 110(2):174-8. PMID: 9457915.
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    540. Ahmad W, Faiyaz ul Haque M, Brancolini V, Tsou HC, ul Haque S, Lam H, Aita VM, Owen J, deBlaquiere M, Frank J, Cserhalmi-Friedman PB, Leask A, McGrath JA, Peacocke M, Ahmad M, Ott J, Christiano AM. Alopecia universalis associated with a mutation in the human hairless gene. Science. 1998 Jan 30; 279(5351):720-4. PMID: 9445480.
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    541. McGrath JA, Eady RA. Molecular basis of blistering skin diseases. Hosp Med. 1998 Jan; 59(1):28-32. PMID: 9798561.
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    542. Corden LD, Mellerio JE, Gratian MJ, Eady RA, Harper JI, Lacour M, Magee G, Lane EB, McGrath JA, McLean WH. Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex. Hum Mutat. 1998; 11(4):279-85. PMID: 9554744.
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    543. Mellerio JE, Smith FJ, McMillan JR, McLean WH, McGrath JA, Morrison GA, Tierney P, Albert DM, Wiche G, Leigh IM, Geddes JF, Lane EB, Uitto J, Eady RA. Recessive epidermolysis bullosa simplex associated with plectin mutations: infantile respiratory complications in two unrelated cases. Br J Dermatol. 1997 Dec; 137(6):898-906. PMID: 9470905.
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    544. McGrath JA, McMillan JR, Shemanko CS, Runswick SK, Leigh IM, Lane EB, Garrod DR, Eady RA. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet. 1997 Oct; 17(2):240-4. PMID: 9326952.
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    545. Ishida-Yamamoto A, McGrath JA, Lam H, Iizuka H, Friedman RA, Christiano AM. The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope. Am J Hum Genet. 1997 Sep; 61(3):581-9. PMID: 9326323.
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    546. Shimizu H, Sato M, Ban M, Kitajima Y, Ishizaki S, Harada T, Bruckner-Tuderman L, Fine JD, Burgeson R, Kon A, McGrath JA, Christiano AM, Uitto J, Nishikawa T. Immunohistochemical, ultrastructural, and molecular features of Kindler syndrome distinguish it from dystrophic epidermolysis bullosa. Arch Dermatol. 1997 Sep; 133(9):1111-7. PMID: 9301588.
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    547. Mellerio JE, Dunnill MG, Allison W, Ashton GH, Christiano AM, Uitto J, Eady RA, McGrath JA. Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa. J Invest Dermatol. 1997 Aug; 109(2):246-9. PMID: 9242516.
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    548. Pulkkinen L, Meneguzzi G, McGrath JA, Xu Y, Blanchet-Bardon C, Ortonne JP, Christiano AM, Uitto J. Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy. J Invest Dermatol. 1997 Aug; 109(2):232-7. PMID: 9242513.
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    549. McMillan JR, McGrath JA, Pulkkinen L, Kon A, Burgeson RE, Ortonne JP, Meneguzzi G, Uitto J, Eady RA. Immunohistochemical analysis of the skin in junctional epidermolysis bullosa using laminin 5 chain specific antibodies is of limited value in predicting the underlying gene mutation. Br J Dermatol. 1997 Jun; 136(6):817-22. PMID: 9217810.
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    550. Ashton GH, Mellerio JE, Dunnill MG, Pulkkinen L, Christiano AM, Uitto J, Eady RA, McGrath JA. A recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral allele. Br J Dermatol. 1997 May; 136(5):674-7. PMID: 9205497.
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    551. Darling TN, McGrath JA, Yee C, Gatalica B, Hametner R, Bauer JW, Pohla-Gubo G, Christiano AM, Uitto J, Hintner H, Yancey KB. Premature termination codons are present on both alleles of the bullous pemphigoid antigen 2/type XVII collagen gene in five Austrian families with generalized atrophic benign epidermolysis bullosa. J Invest Dermatol. 1997 Apr; 108(4):463-8. PMID: 9077475.
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    552. Christiano AM, Pulkkinen L, McGrath JA, Uitto J. Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa. Prenat Diagn. 1997 Apr; 17(4):343-54. PMID: 9160387.
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    553. McGrath JA, Hawk JL, Graham RM, Christiano AM. Lack of the R59W South African founder effect mutation in protoporphyrinogen oxidase in a British patient with homozygous variegate porphyria. Br J Dermatol. 1997 Feb; 136(2):292. PMID: 9068758.
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    554. Pulkkinen L, McGrath J, Airenne T, Haakana H, Tryggvason K, Kivirikko S, Meneguzzi G, Ortonne JP, Christiano AM, Uitto J. Detection of novel LAMC2 mutations in Herlitz junctional epidermolysis Bullosa. Mol Med. 1997 Feb; 3(2):124-35. PMID: 9085255.
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    555. Gatalica B, Pulkkinen L, Li K, Kuokkanen K, Ryyn?nen M, McGrath JA, Uitto J. Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa. Am J Hum Genet. 1997 Feb; 60(2):352-65. PMID: 9012408.
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    556. Shimizu H, Takizawa Y, McGrath JA, Pulkkinen L, Christiano AM, Uitto J, Burgeson RE, Iwatsuki K, Niimi N, Noguchi M, Imayama S, Abe Y, Shirakata Y, Hagiwara S, Saida T, Ogawa H, Hashimoto I, Nishikawa T. Absence of R42X and R635X mutations in the LAMB3 gene in 12 Japanese patients with junctional epidermolysis bullosa. Arch Dermatol Res. 1997 Feb; 289(3):174-6. PMID: 9128767.
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    557. Kon A, McGrath JA, Pulkkinen L, Nomura K, Nakamura T, Maekawa Y, Christiano AM, Hashimoto I, Uitto J. Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling. J Invest Dermatol. 1997 Feb; 108(2):224-8. PMID: 9008239.
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    558. Tamai K, Ishida-Yamamoto A, Matsuo S, Iizuka H, Hashimoto I, Christiano AM, Uitto J, McGrath JA. Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa. Lab Invest. 1997 Feb; 76(2):209-17. PMID: 9042157.
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    559. McGrath JA, Eady RA. The role of immunohistochemistry in the diagnosis of the non-lethal forms of junctional epidermolysis bullosa. J Dermatol Sci. 1997 Jan; 14(1):68-75. PMID: 9049810.
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    560. Dunnill MG, McGrath JA, Richards AJ, Christiano AM, Uitto J, Pope FM, Eady RA. Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa. J Invest Dermatol. 1996 Aug; 107(2):171-7. PMID: 8757758.
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    561. McLean WH, Pulkkinen L, Smith FJ, Rugg EL, Lane EB, Bullrich F, Burgeson RE, Amano S, Hudson DL, Owaribe K, McGrath JA, McMillan JR, Eady RA, Leigh IM, Christiano AM, Uitto J. Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization. Genes Dev. 1996 Jul 15; 10(14):1724-35. PMID: 8698233.
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    562. McGrath JA, Gatalica B, Li K, Dunnill MG, McMillan JR, Christiano AM, Eady RA, Uitto J. Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition. Am J Pathol. 1996 Jun; 148(6):1787-96. PMID: 8669466.
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    563. Maestrini E, Monaco AP, McGrath JA, Ishida-Yamamoto A, Camisa C, Hovnanian A, Weeks DE, Lathrop M, Uitto J, Christiano AM. A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome. Nat Genet. 1996 May; 13(1):70-7. PMID: 8673107.
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    564. Christiano AM, McGrath JA, Uitto J. Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa. J Invest Dermatol. 1996 Apr; 106(4):766-70. PMID: 8618018.
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    565. McGrath JA, Dunnill MG, Christiano AM, Lake BD, Atherton DJ, Rodeck CH, Pope FM, Eady RA, Uitto J. First trimester DNA-based exclusion of recessive dystrophic epidermolysis bullosa from chorionic villus sampling. Br J Dermatol. 1996 Apr; 134(4):734-9. PMID: 8733382.
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    566. McGrath JA, Darling T, Gatalica B, Pohla-Gubo G, Hintner H, Christiano AM, Yancey K, Uitto J. A homozygous deletion mutation in the gene encoding the 180-kDa bullous pemphigoid antigen (BPAG2) in a family with generalized atrophic benign epidermolysis bullosa. J Invest Dermatol. 1996 Apr; 106(4):771-4. PMID: 8618019.
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    567. Christiano AM, McGrath JA, Tan KC, Uitto J. Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance. Am J Hum Genet. 1996 Apr; 58(4):671-81. PMID: 8644729.
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    568. McGrath JA, Kivirikko S, Ciatti S, Moss C, Christiano AM, Uitto J. A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect. J Invest Dermatol. 1996 Apr; 106(4):781-4. PMID: 8618022.
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    569. Kivirikko S, McGrath JA, Pulkkinen L, Uitto J, Christiano AM. Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa. Hum Mol Genet. 1996 Feb; 5(2):231-7. PMID: 8824879.
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    570. Shimizu H, McGrath JA, Christiano AM, Nishikawa T, Uitto J. Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype correlation in a case of moderate clinical severity. J Invest Dermatol. 1996 Jan; 106(1):119-24. PMID: 8592061.
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    571. Kong LB, Lekawa M, Navarro RA, McGrath J, Cohen M, Margulies DR, Hiatt JR. Pedestrian-motor vehicle trauma: an analysis of injury profiles by age. J Am Coll Surg. 1996 Jan; 182(1):17-23. PMID: 8542084.
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    572. Creamer JD, McGrath JA, Webb-Peploe M, Smith NP. Serum sickness-like illness following streptokinase therapy. A case report. Clin Exp Dermatol. 1995 Nov; 20(6):468-70. PMID: 8857338.
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    573. McGrath JA, Gatalica B, Christiano AM, Li K, Owaribe K, McMillan JR, Eady RA, Uitto J. Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. Nat Genet. 1995 Sep; 11(1):83-6. PMID: 7550320.
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    574. McGrath JA, Kivirikko S, Ciatti S, Moss C, Dunnill GS, Eady RA, Rodeck CH, Christiano AM, Uitto J. A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk. Genomics. 1995 Sep 01; 29(1):282-4. PMID: 8530087.
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    575. McGrath JA, McMillan JR, Dunnill MG, Pulkkinen L, Christiano AM, Rodeck CH, Eady RA, Uitto J. Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: implications for prenatal diagnosis in one family. Prenat Diagn. 1995 Jul; 15(7):647-54. PMID: 8532625.
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    576. Kivirikko S, McGrath JA, Baudoin C, Aberdam D, Ciatti S, Dunnill MG, McMillan JR, Eady RA, Ortonne JP, Meneguzzi G, et al. A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa. Hum Mol Genet. 1995 May; 4(5):959-62. PMID: 7633458.
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    577. McGrath JA, Pulkkinen L, Christiano AM, Leigh IM, Eady RA, Uitto J. Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa. J Invest Dermatol. 1995 Apr; 104(4):467-74. PMID: 7706760.
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    578. Latham KE, McGrath J, Solter D. Mechanistic and developmental aspects of genetic imprinting in mammals. Int Rev Cytol. 1995; 160:53-98. PMID: 7558687.
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    579. Pulkkinen L, McGrath JA, Christiano AM, Uitto J. Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3). Hum Mutat. 1995; 6(1):77-84. PMID: 7550237.
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    580. Eady RA, McGrath JA, McMillan JR. Ultrastructural clues to genetic disorders of skin: the dermal-epidermal junction. J Invest Dermatol. 1994 Nov; 103(5 Suppl):13S-18S. PMID: 7963675.
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    581. McGrath JA, Sakai LY, Eady RA. Fibrillin immunoreactivity is associated with normal or fragmented elastic microfibrils at the dermal-epidermal junction in recessive dystrophic epidermolysis bullosa. Br J Dermatol. 1994 Oct; 131(4):465-71. PMID: 7947198.
      Citations:    
    582. McGrath JA, Schofield OM, Eady RA. Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features. Br J Dermatol. 1994 May; 130(5):617-25. PMID: 8204470.
      Citations:    
    583. McGrath JA, Ishida-Yamamoto A, Shimizu H, Fine JD, Eady RA. Immunoelectron microscopy of skin basement membrane zone antigens: a pre-embedding method using 1-nm immunogold with silver enhancement. Acta Derm Venereol. 1994 May; 74(3):197-200. PMID: 7915461.
      Citations:    
    584. Vaughan Jones SA, Salas J, McGrath JA, Palmer I, Bhogal GS, Black MM. A retrospective analysis of tissue-fixed immunoreactants from skin biopsies maintained in Michel's medium. Dermatology. 1994; 189 Suppl 1:131-2. PMID: 8049555.
      Citations:    
    585. McGrath JA, Schofield OM, Ishida-Yamamoto A, O'Grady A, Mayou BJ, Navsaria H, Leigh IM, Eady RA. Cultured keratinocyte allografts and wound healing in severe recessive dystrophic epidermolysis bullosa. J Am Acad Dermatol. 1993 Sep; 29(3):407-19. PMID: 8349857.
      Citations:    
    586. McGrath JA, Ishida-Yamamoto A, O'Grady A, Leigh IM, Eady RA. Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: correlation with type VII collagen expression. J Invest Dermatol. 1993 Apr; 100(4):366-72. PMID: 8454899.
      Citations:    
    587. McGrath JA, Burrows NP, Russell Jones R, Eady RA. Epidermolysis bullosa simplex Dowling-Meara: troublesome blistering and pruritus in an adult patient. Dermatology. 1993; 186(1):68-71. PMID: 8435522.
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    588. Travis SP, McGrath JA, Turnbull AJ, Schofield OM, Chan O, O'Connor AF, Mayou B, Eady RA, Thompson RP. Oral and gastrointestinal manifestations of epidermolysis bullosa. Lancet. 1992 Dec 19-26; 340(8834-8835):1505-6. PMID: 1361600.
      Citations:    
    589. McGrath JA, O'Grady A, Mayou BJ, Eady RA. Mitten deformity in severe generalized recessive dystrophic epidermolysis bullosa: histological, immunofluorescence, and ultrastructural study. J Cutan Pathol. 1992 Oct; 19(5):385-9. PMID: 1474191.
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    590. McGrath JA, Leigh IM, Eady RA. Intracellular expression of type VII collagen during wound healing in severe recessive dystrophic epidermolysis bullosa and normal human skin. Br J Dermatol. 1992 Oct; 127(4):312-7. PMID: 1419750.
      Citations:    
    591. Ishida-Yamamoto A, McGrath JA, Judge MR, Leigh IM, Lane EB, Eady RA. Selective involvement of keratins K1 and K10 in the cytoskeletal abnormality of epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). J Invest Dermatol. 1992 Jul; 99(1):19-26. PMID: 1376754.
      Citations:    
    592. McGrath JA, Ishida-Yamamoto A, Tidman MJ, Heagerty AH, Schofield OM, Eady RA. Epidermolysis bullosa simplex (Dowling-Meara). A clinicopathological review. Br J Dermatol. 1992 May; 126(5):421-30. PMID: 1610681.
      Citations:    
    593. McGrath JA, Schofield OM, Mayou BJ, McKee PH, Eady RA. Epidermolysis bullosa complicated by squamous cell carcinoma: report of 10 cases. J Cutan Pathol. 1992 Apr; 19(2):116-23. PMID: 1597567.
      Citations:    
    594. Slater SD, McGrath JA, Hobbs C, Eady RA, McKee PH. Expression of mutant p53 gene in squamous carcinoma arising in patients with recessive dystrophic epidermolysis bullosa. Histopathology. 1992 Mar; 20(3):237-41. PMID: 1563710.
      Citations:    
    595. Ishida-Yamamoto A, McGrath JA, Chapman SJ, Leigh IM, Lane EB, Eady RA. Epidermolysis bullosa simplex (Dowling-Meara type) is a genetic disease characterized by an abnormal keratin-filament network involving keratins K5 and K14. J Invest Dermatol. 1991 Dec; 97(6):959-68. PMID: 1721080.
      Citations:    
    596. McGrath JA, Schofield OM, Mayou BJ, McKee PH, Eady RA. Metastatic squamous cell carcinoma resembling angiosarcoma complicating dystrophic epidermolysis bullosa. Dermatologica. 1991; 182(4):235-8. PMID: 1884860.
      Citations:    
    597. McGrath J, Cerio R, Wilson-Jones E. The phenotypic heterogenicity of bullous ichthyosis--a case report of three family members. Clin Exp Dermatol. 1991 Jan; 16(1):25-7. PMID: 2025929.
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