Thomas Jefferson University

John McGrath

TitleVolunteer Faculty
InstitutionThomas Jefferson University
DepartmentFaculty Records
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. 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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    2. McGrath JA, Hsu CK. Inflammatory dermatoses and an era of new diagnostic dermatopathology. Br J Dermatol. 2024 Jul 27. PMID: 39066646.
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    3. McGrath JA. Publications in the BJD: the impact of being read (and cited). Br J Dermatol. 2024 Jun 28. PMID: 38941442.
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    4. McGrath JA. BJD: striving to be the Best Journal in?Dermatology in a changing world. Br J Dermatol. 2024 Jun 20; 191(1):1-2. PMID: 38875110.
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    5. 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 May 29. PMID: 38809548.
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    6. McGrath JA, Ahmed S. Paper mill-backed writers: here, there and everywhere? Br J Dermatol. 2024 May 23. PMID: 38781446.
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    7. 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 Jun 11; 18(23):14938-14953. PMID: 38726598.
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    8. 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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    9. 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 Apr 17; 190(5):617-627. PMID: 38149939.
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    10. 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 Apr 12. PMID: 38613531.
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    11. 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 Apr 05. PMID: 38583743.
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    12. 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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    13. 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 Mar 15; 190(4):588-590. PMID: 38170465.
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    14. 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 Mar 15; 190(4):583-585. PMID: 38149684.
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    15. 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+ Th2 cells which may contribute to pruritus in lesional skin. Br J Dermatol. 2024 Mar 13. PMID: 38477474.
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    16. 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 Jul; 91(1):130-133. PMID: 38484894.
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    17. 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 Mar 10. PMID: 38462666.
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    18. 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 May 01; 32(5):1497-1509. PMID: 38429928.
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    19. 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 Feb 16; 190(3):340-342. PMID: 37936299.
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    20. 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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    21. 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 Mar; 75:103306. PMID: 38271763.
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    22. 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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    23. 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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    24. 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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    25. 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 Feb; 153(2):521-526.e11. PMID: 37690594.
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    26. 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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    27. 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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    28. 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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    29. 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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    30. 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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    31. 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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    32. 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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    33. 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 Mar 17. PMID: 36929380.
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    34. 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 Mar 02. PMID: 36864587.
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    35. 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 Mar 01. PMID: 36868990.
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    36. 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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    37. 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 Feb 15. PMID: 36796725.
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    38. 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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    39. 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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    40. Endzhievskaya S, Hsu CK, Yang HS, Huang HY, Lin YC, Hong YK, Lee JYW, Onoufriadis A, Takeichi T, Lee JY, 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 Feb 10. PMID: 36774976.
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    41. 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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    42. 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 Feb 01; 159(2):172-181. PMID: 36598763.
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    43. 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 Jan 23; 188(1):75-83. PMID: 36689522.
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    44. 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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    45. 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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    46. 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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    47. 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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    48. 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. A role for Collagen VII in matrix protein secretion. Matrix Biol. 2022 Jun 29. PMID: 35779741.
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    49. 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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    50. Lwin SM, McGrath JA. Restoring type VII collagen in skin. Med (N Y). 2022 05 13; 3(5):273-275. PMID: 35584643.
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    51. 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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    52. Trubetskoy V, Pardi?as AF, Qi T, Panagiotaropoulou G, Awasthi S, Bigdeli TB, Bryois J, Chen CY, Dennison CA, Hall LS, Lam M, Watanabe K, Frei O, Ge T, Harwood JC, Koopmans F, Magnusson S, Richards AL, Sidorenko J, Wu Y, Zeng J, Grove J, Kim M, Li Z, Voloudakis G, Zhang W, Adams M, Agartz I, Atkinson EG, Agerbo E, Al Eissa M, Albus M, Alexander M, Alizadeh BZ, Alptekin K, Als TD, Amin F, Arolt V, Arrojo M, Athanasiu L, Azevedo MH, Bacanu SA, Bass NJ, Begemann M, Belliveau RA, Bene J, Benyamin B, Bergen SE, Blasi G, Bobes J, Bonassi S, Braun A, Bressan RA, Bromet EJ, Bruggeman R, Buckley PF, Buckner RL, Bybjerg-Grauholm J, Cahn W, Cairns MJ, Calkins ME, Carr VJ, Castle D, Catts SV, Chambert KD, Chan RCK, Chaumette B, Cheng W, Cheung EFC, Chong SA, Cohen D, Consoli A, Cordeiro Q, Costas J, Curtis C, Davidson M, Davis KL, de Haan L, Degenhardt F, DeLisi LE, Demontis D, Dickerson F, Dikeos D, Dinan T, Djurovic S, Duan J, Ducci G, Dudbridge F, Eriksson JG, Fa?an?s L, Faraone SV, Fiorentino A, Forstner A, Frank J, Freimer NB, Fromer M, Frustaci A, Gadelha A, Genovese G, Gershon ES, Giannitelli M, Giegling I, Giusti-Rodr?guez P, Godard S, Goldstein JI, Gonz?lez Pe?as J, Gonz?lez-Pinto A, Gopal S, Gratten J, Green MF, Greenwood TA, Guillin O, G?l?ks?z S, Gur RE, Gur RC, Guti?rrez B, Hahn E, Hakonarson H, Haroutunian V, Hartmann AM, Harvey C, Hayward C, Henskens FA, Herms S, Hoffmann P, Howrigan DP, Ikeda M, Iyegbe C, Joa I, Juli? A, K?hler AK, Kam-Thong T, Kamatani Y, Karachanak-Yankova S, Kebir O, Keller MC, Kelly BJ, Khrunin A, Kim SW, Klovins J, Kondratiev N, Konte B, Kraft J, Kubo M, Kucinskas V, Kucinskiene ZA, Kusumawardhani A, Kuzelova-Ptackova H, Landi S, Lazzeroni LC, Lee PH, Legge SE, Lehrer DS, Lencer R, Lerer B, Li M, Lieberman J, Light GA, Limborska S, Liu CM, L?nnqvist J, Loughland CM, Lubinski J, Luykx JJ, Lynham A, Macek M, Mackinnon A, Magnusson PKE, Maher BS, Maier W, Malaspina D, Mallet J, Marder SR, Marsal S, Martin AR, Martorell L, Mattheisen M, McCarley RW, McDonald C, McGrath JJ, Medeiros H, Meier S, Melegh B, Melle I, Mesholam-Gately RI, Metspalu A, Michie PT, Milani L, Milanova V, Mitjans M, Molden E, Molina E, Molto MD, Mondelli V, Moreno C, Morley CP, Muntan? G, Murphy KC, Myin-Germeys I, Nenadic I, Nestadt G, Nikitina-Zake L, Noto C, Nuechterlein KH, O'Brien NL, O'Neill FA, Oh SY, Olincy A, Ota VK, Pantelis C, Papadimitriou GN, Parellada M, Paunio T, Pellegrino R, Periyasamy S, Perkins DO, Pfuhlmann B, Pietil?inen O, Pimm J, Porteous D, Powell J, Quattrone D, Quested D, Radant AD, Rampino A, Rapaport MH, Rautanen A, Reichenberg A, Roe C, Roffman JL, Roth J, Rothermundt M, Rutten BPF, Saker-Delye S, Salomaa V, Sanjuan J, Santoro ML, Savitz A, Schall U, Scott RJ, Seidman LJ, Sharp SI, Shi J, Siever LJ, Sigurdsson E, Sim K, Skarabis N, Slominsky P, So HC, Sobell JL, S?derman E, Stain HJ, Steen NE, Steixner-Kumar AA, St?gmann E, Stone WS, Straub RE, Streit F, Strengman E, Stroup TS, Subramaniam M, Sugar CA, Suvisaari J, Svrakic DM, Swerdlow NR, Szatkiewicz JP, Ta TMT, Takahashi A, Terao C, Thibaut F, Toncheva D, Tooney PA, Torretta S, Tosato S, Tura GB, Turetsky BI, ??ok A, Vaaler A, van Amelsvoort T, van Winkel R, Veijola J, Waddington J, Walter H, Waterreus A, Webb BT, Weiser M, Williams NM, Witt SH, Wormley BK, Wu JQ, Xu Z, Yolken R, Zai CC, Zhou W, Zhu F, Zimprich F, Atbasoglu EC, Ayub M, Benner C, Bertolino A, Black DW, Bray NJ, Breen G, Buccola NG, Byerley WF, Chen WJ, Cloninger CR, Crespo-Facorro B, Donohoe G, Freedman R, Galletly C, Gandal MJ, Gennarelli M, Hougaard DM, Hwu HG, Jablensky AV, McCarroll SA, Moran JL, Mors O, Mortensen PB, M?ller-Myhsok B, Neil AL, Nordentoft M, Pato MT, Petryshen TL, Pirinen M, Pulver AE, Schulze TG, Silverman JM, Smoller JW, Stahl EA, Tsuang DW, Vilella E, Wang SH, Xu S, Adolfsson R, Arango C, Baune BT, Belangero SI, B?rglum AD, Braff D, Bramon E, Buxbaum JD, Campion D, Cervilla JA, Cichon S, Collier DA, Corvin A, Curtis D, Forti MD, Domenici E, Ehrenreich H, et al. Mapping genomic loci implicates genes and synaptic biology in schizophrenia. Nature. 2022 04; 604(7906):502-508. PMID: 35396580.
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    53. Petrof G, Papanikolaou M, Martinez AE, Mellerio JE, McGrath JA, Bardhan A, Harper N, Heagerty A, Ogboli M, Chiswell C, Moss C. The epidemiology of epidermolysis bullosa in England and Wales: data from the national epidermolysis bullosa database. Br J Dermatol. 2022 05; 186(5):843-848. PMID: 34927719.
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    54. Theocharidis G, Tekkela S, Veves A, McGrath JA, Onoufriadis A. Single-cell transcriptomics in human skin research: available technologies, technical considerations and disease applications. Exp Dermatol. 2022 05; 31(5):655-673. PMID: 35196402.
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    55. Doolan BJ, McGrath JA, Onoufriadis A. A clinician's guide to omics resources in dermatology. Clin Exp Dermatol. 2022 May; 47(5):858-866. PMID: 35104371.
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    56. Onoufriadis A, McGrath JA. The Past and Future of Rare Skin Disease Research and Therapy. J Invest Dermatol. 2022 04; 142(4):1010-1014. PMID: 35131257.
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    57. Endo Y, Tabara Y, Kawaguchi T, Onoufriadis A, McGrath JA, Matsuda F, Kabashima K. Metabolic syndrome and comorbidities in patients with psoriasis: a community-based case-control study from the Nagahama cohort in Japan. Eur J Dermatol. 2022 02 01; 32(1):86-93. PMID: 35514103.
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    58. Stefanski HE, Xing Y, Nicholls J, Jonart L, Goren E, Taylor PA, Mills AA, Riddle M, McGrath J, Tolar J, Hollander GA, Blazar BR. P63 targeted deletion under the FOXN1 promoter disrupts pre-and post-natal thymus development, function and maintenance as well as induces severe hair loss. PLoS One. 2022; 17(1):e0261770. PMID: 35077450.
      Citations:    
    59. Natsuga K, Shinkuma S, Hsu CK, Fujita Y, Ishiko A, Tamai K, McGrath JA. Current topics in Epidermolysis bullosa: Pathophysiology and therapeutic challenges. J Dermatol Sci. 2021 Dec; 104(3):164-176. PMID: 34916041.
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    123. Cho RJ, Alexandrov LB, den Breems NY, Atanasova VS, Farshchian M, Purdom E, Nguyen TN, Coarfa C, Rajapakshe K, Prisco M, Sahu J, Tassone P, Greenawalt EJ, Collisson EA, Wu W, Yao H, Su X, Guttmann-Gruber C, Hofbauer JP, Hashmi R, Fuentes I, Benz SC, Golovato J, Ehli EA, Davis CM, Davies GE, Covington KR, Murrell DF, Salas-Alanis JC, Palisson F, Bruckner AL, Robinson W, Has C, Bruckner-Tuderman L, Titeux M, Jonkman MF, Rashidghamat E, Lwin SM, Mellerio JE, McGrath JA, Bauer JW, Hovnanian A, Tsai KY, South AP. APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa. Sci Transl Med. 2018 Aug 22; 10(455). PMID: 30135250.
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    124. Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Sotoudeh S, Jazayeri A, Guy A, Lovell PA, Liu L, Kariminejad A, McGrath JA, Zeinali S, Uitto J. Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa. Hum Mutat. 2018 Oct; 39(10):1349-1354. PMID: 30016581.
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    125. Nanda A, Liu L, Al-Ajmi H, Al-Saleh QA, Al-Fadhli S, Anim JT, Ozoemena L, Mellerio JE, McGrath JA. Clinical subtypes and molecular basis of epidermolysis bullosa in Kuwait. Int J Dermatol. 2018 Sep; 57(9):1058-1067. PMID: 30011071.
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    126. Onoufriadis A, Hsu CK, Ainali C, Ung CY, Rashidghamat E, Yang HS, Huang HY, Niazi U, Tziotzios C, Yang JC, Nuamah R, Tang MJ, Saxena A, de Rinaldis E, McGrath JA. Time Series Integrative Analysis of RNA Sequencing?and MicroRNA Expression Data Reveals?Key Biologic Wound Healing Pathways?in?Keloid-Prone Individuals. J Invest Dermatol. 2018 12; 138(12):2690-2693. PMID: 29870686.
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    127. Liao Y, Ivanova L, Sivalenka R, Plumer T, Zhu H, Zhang X, Christiano AM, McGrath JA, Gurney JP, Cairo MS. Efficacy of Human Placental-Derived Stem Cells in Collagen VII Knockout (Recessive Dystrophic Epidermolysis Bullosa) Animal Model. Stem Cells Transl Med. 2018 07; 7(7):530-542. PMID: 29745997.
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    128. Tolar J, Bauer JW, Kaplan DH, Leachman SA, McGrath JA, Paller AS, Griffith-Bauer KA, Stemwedel CE, Kulesz-Martin MF. Montagna Symposium 2017-Precision Dermatology: Next Generation Prevention, Diagnosis, and Treatment. J Invest Dermatol. 2018 06; 138(6):1243-1248. PMID: 29550416.
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    129. Hale GI, Cohen MC, Quarrell OW, McGrath JA, Messenger AG. Coinheritance of 2 New Potentially Damaging Heterozygous COL7A1 Variants in a Family With Autosomal Dominant Epidermolysis Bullosa Pruriginosa. Pediatr Dev Pathol. 2018 Nov-Dec; 21(6):580-584. PMID: 29504492.
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    130. Scott KM, Saha S, Lim CCW, Aguilar-Gaxiola S, Al-Hamzawi A, Alonso J, Benjet C, Bromet EJ, Bruffaerts R, Caldas-de-Almeida JM, de Girolamo G, de Jonge P, Degenhardt L, Florescu S, Gureje O, Haro JM, Hu C, Karam EG, Kovess-Masfety V, Lee S, Lepine JP, Mneimneh Z, Navarro-Mateu F, Piazza M, Posada-Villa J, Sampson NA, Stagnaro JC, Kessler RC, McGrath JJ. Psychotic experiences and general medical conditions: a cross-national analysis based on 28 002 respondents from 16 countries in the WHO World Mental Health Surveys. Psychol Med. 2018 12; 48(16):2730-2739. PMID: 29478433.
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    131. Degenhardt L, Saha S, Lim CCW, Aguilar-Gaxiola S, Al-Hamzawi A, Alonso J, Andrade LH, Bromet EJ, Bruffaerts R, Caldas-de-Almeida JM, de Girolamo G, Florescu S, Gureje O, Haro JM, Karam EG, Karam G, Kovess-Masfety V, Lee S, Lepine JP, Makanjuola V, Medina-Mora ME, Mneimneh Z, Navarro-Mateu F, Piazza M, Posada-Villa J, Sampson NA, Scott KM, Stagnaro JC, Ten Have M, Kendler KS, Kessler RC, McGrath JJ. The associations between psychotic experiences and substance use and substance use disorders: findings from the World Health Organization World Mental Health surveys. Addiction. 2018 05; 113(5):924-934. PMID: 29284197.
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    132. Uitto J, Bruckner-Tuderman L, McGrath JA, Riedl R, Robinson C. EB2017-Progress in Epidermolysis Bullosa Research toward Treatment and Cure. J Invest Dermatol. 2018 Jan 31. PMID: 29391251.
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    133. Lee JYW, Farag A, Tawdy A, Liu L, Michael M, Rashidghamat E, Aristodemou S, Hsu CK, Simpson MA, Parsons M, McGrath JA. Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility. J Dermatol Sci. 2018 Feb; 89(2):198-201. PMID: 29229434.
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    134. Vahidnezhad H, Youssefian L, Saeidian AH, Mahmoudi H, Touati A, Abiri M, Kajbafzadeh AM, Aristodemou S, Liu L, McGrath JA, Ertel A, Londin E, Kariminejad A, Zeinali S, Fortina P, Uitto J. Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy. Matrix Biol. 2018 Mar; 66:22-33. PMID: 29138120.
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    135. Hsu CK, Lin HH, Harn HI, Ogawa R, Wang YK, Ho YT, Chen WR, Lee YC, Lee JY, Shieh SJ, Cheng CM, McGrath JA, Tang MJ. Caveolin-1 Controls Hyperresponsiveness to Mechanical Stimuli and Fibrogenesis-Associated RUNX2 Activation?in Keloid Fibroblasts. J Invest Dermatol. 2018 01; 138(1):208-218. PMID: 28899682.
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    136. Straussberg R, Onoufriadis A, Konen O, Zouabi Y, Cohen L, Lee JYW, Hsu CK, Simpson MA, McGrath JA. Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45. Am J Med Genet A. 2017 Nov; 173(11):3109-3113. PMID: 28884889.
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    137. Tziotzios C, Ainali C, Holmes S, Cunningham F, Lwin SM, Palamaras I, Bhargava K, Rymer J, Stefanato CM, Kirkpatrick N, Vano-Galvan S, Petridis C, Fenton DA, Simpson MA, Onoufriadis A, McGrath JA. Tissue and Circulating MicroRNA Co-expression Analysis Shows Potential Involvement of miRNAs in the Pathobiology of?Frontal Fibrosing Alopecia. J Invest Dermatol. 2017 11; 137(11):2440-2443. PMID: 28774594.
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    138. Takeichi T, Torrelo A, Lee JYW, Ohno Y, Lozano ML, Kihara A, Liu L, Yasuda Y, Ishikawa J, Murase T, Rodrigo AB, Fern?ndez-Crehuet P, Toi Y, Mellerio J, Rivera J, Vicente V, Kelsell DP, Nishimura Y, Okuno Y, Kojima D, Ogawa Y, Sugiura K, Simpson MA, McLean WHI, Akiyama M, McGrath JA. Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a?Spectrum of Keratinization Disorders Associated with Thrombocytopenia. J Invest Dermatol. 2017 11; 137(11):2344-2353. PMID: 28774589.
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    139. Xu M, Horrell J, Snitow M, Cui J, Gochnauer H, Syrett CM, Kallish S, Seykora JT, Liu F, Gaillard D, Katz JP, Kaestner KH, Levin B, Mansfield C, Douglas JE, Cowart BJ, Tordoff M, Liu F, Zhu X, Barlow LA, Rubin AI, McGrath JA, Morrisey EE, Chu EY, Millar SE. WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation. Nat Commun. 2017 06 07; 8:15397. PMID: 28589954.
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    140. Atanasova VS, Jiang Q, Prisco M, Gruber C, Piñón 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 May 23. PMID: 28549954.
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    141. 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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    142. 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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    143. 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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    144. 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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    145. 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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    146. 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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    147. 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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    148. 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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    149. 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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    150. 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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    151. 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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    152. 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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    153. 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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    154. 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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    155. 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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    156. 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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    157. 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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    158. 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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    159. 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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    160. 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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    161. 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):352-8. PMID: 26802230.
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    162. 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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    163. 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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    164. McGrath JA. Recently Identified Forms of Epidermolysis Bullosa. Ann Dermatol. 2015 Dec; 27(6):658-66. PMID: 26719633.
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    165. 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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    166. 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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    167. 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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    168. 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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    169. 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; PMCID: PMC4575209.
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    170. 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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    171. 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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    172. 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):765-769.e1. PMID: 26148662.
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    173. 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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    174. 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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    175. 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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    176. 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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    177. 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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    178. 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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    179. 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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    180. 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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    181. 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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    182. 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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    183. Mcgrath JA. Lipoid proteinosis. Handb Clin Neurol. 2015; 132:317-22. PMID: 26564090.
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    184. 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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    185. Najman JM, Alati R, Bor W, Clavarino A, Mamun A, McGrath JJ, McIntyre D, O'Callaghan M, Scott J, Shuttlewood G, Williams GM, Wray N. Cohort Profile Update: The Mater-University of Queensland Study of Pregnancy (MUSP). Int J Epidemiol. 2015 Feb; 44(1):78-78f. PMID: 25519422.
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    186. Liu Y, Pham X, Zhang L, Chen PL, Burzynski G, McGaughey DM, He S, McGrath JA, Wolyniec P, Fallin MD, Pierce MS, McCallion AS, Pulver AE, Avramopoulos D, Valle D. Functional variants in DPYSL2 sequence increase risk of schizophrenia and suggest a link to mTOR signaling. G3 (Bethesda). 2014 Nov 20; 5(1):61-72. PMID: 25416705.
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    187. Perdoni C, McGrath JA, Tolar J. Preconditioning of mesenchymal stem cells for improved transplantation efficacy in recessive dystrophic epidermolysis bullosa. Stem Cell Res Ther. 2014 Nov 06; 5(6):121. PMID: 25376815.
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    188. Shipman AR, Liu L, Lai-Cheong JE, McGrath JA, Heagerty A. Somatic forward (nonrevertant) mosaicism in recessive dystrophic epidermolysis bullosa. JAMA Dermatol. 2014 Sep; 150(9):1025-7. PMID: 24989707.
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    189. Tolar J, McGrath JA. Augmentation of cutaneous wound healing by pharmacologic mobilization of endogenous bone marrow stem cells. J Invest Dermatol. 2014 Sep; 134(9):2312-2314. PMID: 25120149.
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    190. Petrof G, Nanda A, Howden J, Takeichi T, McMillan JR, Aristodemou S, Ozoemena L, Liu L, South AP, Pourreyron C, Dafou D, Proudfoot LE, Al-Ajmi H, Akiyama M, McLean WH, Simpson MA, Parsons M, McGrath JA. Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome. Am J Hum Genet. 2014 Sep 4; 95(3):308-14. PMID: 25152456.
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    191. Petrof G, Abdul-Wahab A, McGrath JA. Cell therapy in dermatology. Cold Spring Harb Perspect Med. 2014 Jun 02; 4(6). PMID: 24890834.
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    192. Pedersen CB, Mors O, Bertelsen A, Waltoft BL, Agerbo E, McGrath JJ, Mortensen PB, Eaton WW. A comprehensive nationwide study of the incidence rate and lifetime risk for treated mental disorders. JAMA Psychiatry. 2014 May; 71(5):573-81. PMID: 24806211.
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    193. Petrova A, Celli A, Jacquet L, Dafou D, Crumrine D, Hupe M, Arno M, Hobbs C, Cvoro A, Karagiannis P, Devito L, Sun R, Adame LC, Vaughan R, McGrath JA, Mauro TM, Ilic D. 3D In vitro model of a functional epidermal permeability barrier from human embryonic stem cells and induced pluripotent stem cells. Stem Cell Reports. 2014 May 06; 2(5):675-89. PMID: 24936454.
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    194. Campbell P, Morton PE, Takeichi T, Salam A, Roberts N, Proudfoot LE, Mellerio JE, Aminu K, Wellington C, Patil SN, Akiyama M, Liu L, McMillan JR, Aristodemou S, Ishida-Yamamoto A, Abdul-Wahab A, Petrof G, Fong K, Harnchoowong S, Stone KL, Harper JI, Irwin McLean WH, Simpson MA, Parsons M, McGrath JA. Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR. J Invest Dermatol. 2014 Oct; 134(10):2570-2578. PMID: 24691054.
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    195. Rognoni E, Widmaier M, Jakobson M, Ruppert R, Ussar S, Katsougkri D, B?ttcher RT, Lai-Cheong JE, Rifkin DB, McGrath JA, F?ssler R. Kindlin-1 controls Wnt and TGF-? availability to regulate cutaneous stem cell proliferation. Nat Med. 2014 Apr; 20(4):350-9. PMID: 24681597.
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    196. Fine JD, Bruckner-Tuderman L, Eady RA, Bauer EA, Bauer JW, Has C, Heagerty A, Hintner H, Hovnanian A, Jonkman MF, Leigh I, Marinkovich MP, Martinez AE, McGrath JA, Mellerio JE, Moss C, Murrell DF, Shimizu H, Uitto J, Woodley D, Zambruno G. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol. 2014 Jun; 70(6):1103-26. PMID: 24690439.
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    197. McGrath JJ, Petersen L, Agerbo E, Mors O, Mortensen PB, Pedersen CB. A comprehensive assessment of parental age and psychiatric disorders. JAMA Psychiatry. 2014 Mar; 71(3):301-9. PMID: 24452535.
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    198. Hsu CK, Wang SP, Lee JY, McGrath JA. Treatment of hereditary epidermolysis bullosa: updates and future prospects. Am J Clin Dermatol. 2014 Feb; 15(1):1-6. PMID: 24402870.
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    199. Tolar J, Tolarova S, McGrath JA. On Medawar's 'Actively acquired tolerance of foreign cells'. Exp Dermatol. 2014 Feb; 23(2):97-8. PMID: 24476006.
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    200. Dayal JH, Cole CL, Pourreyron C, Watt SA, Lim YZ, Salas-Alanis JC, Murrell DF, McGrath JA, Stieger B, Jahoda C, Leigh IM, South AP. Type VII collagen regulates expression of OATP1B3, promotes front-to-rear polarity and increases structural organisation in 3D spheroid cultures of RDEB tumour keratinocytes. J Cell Sci. 2014 Feb 15; 127(Pt 4):740-51. PMID: 24357722.
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    201. Tolar J, McGrath JA, Xia L, Riddle MJ, Lees CJ, Eide C, Keene DR, Liu L, Osborn MJ, Lund TC, Blazar BR, Wagner JE. Patient-specific naturally gene-reverted induced pluripotent stem cells in recessive dystrophic epidermolysis bullosa. J Invest Dermatol. 2014 May; 134(5):1246-1254. PMID: 24317394.
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    202. Takeichi T, Nanda A, Liu L, Salam A, Campbell P, Fong K, Akiyama M, Ozoemena L, Stone KL, Al-Ajmi H, Simpson MA, McGrath JA. Impact of next generation sequencing on diagnostics in a genetic skin disease clinic. Exp Dermatol. 2013 Dec; 22(12):825-31. PMID: 24279917.
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    203. Di WL, Mellerio JE, Bernadis C, Harper J, Abdul-Wahab A, Ghani S, Chan L, Martinez-Queipo M, Hara H, McNicol AM, Farzaneh F, McGrath J, Thrasher A, Qasim W. Phase I study protocol for ex vivo lentiviral gene therapy for the inherited skin disease, Netherton syndrome. Hum Gene Ther Clin Dev. 2013 Dec; 24(4):182-90. PMID: 24329107.
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    204. Almeida HL, Heckler GT, Fong K, Lai-Cheong J, McGrath J. Sporadic Kindler syndrome with a novel mutation. An Bras Dermatol. 2013 Nov-Dec; 88(6 Suppl 1):212-5. PMID: 24346923.
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    205. Di WL, Mellerio JE, Bernadis C, Harper J, Abdul-Wahab A, Ghani S, Martinez-Queipo M, Hara H, McNicol AM, McGrath J, Thrasher AJ, Qasim W. Phase I study protocol for ex-vivo lentiviral gene therapy for the inherited skin disease, Netherton Syndrome. Hum Gene Ther Clin Dev. 2013 Oct 18. PMID: 24138501.
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    206. Michael M, Begum R, Fong K, Pourreyron C, Pourreyrone C, South AP, McGrath JA, Parsons M. BPAG1-e restricts keratinocyte migration through control of adhesion stability. J Invest Dermatol. 2014 Mar; 134(3):773-82. PMID: 24025550.
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    207. Has C, Kiritsi D, Mellerio JE, Franzke CW, Wedgeworth E, Tantcheva-Poor I, Kernland-Lang K, Itin P, Simpson MA, Dopping-Hepenstal PJ, Fujimoto W, McGrath JA, Bruckner-Tuderman L. The missense mutation p.R1303Q in type XVII collagen underlies junctional epidermolysis bullosa resembling Kindler syndrome. J Invest Dermatol. 2014 Mar; 134(3):845-849. PMID: 24005051.
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    208. Bruckner-Tuderman L, McGrath JA, Robinson EC, Uitto J. Progress in Epidermolysis Bullosa Research: Summary of DEBRA International Research Conference 2012. J Invest Dermatol. 2013 Sep; 133(9):2121-6. PMID: 23949764.
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    209. Samuelov L, Sarig O, Harmon RM, Rapaport D, Ishida-Yamamoto A, Isakov O, Koetsier JL, Gat A, Goldberg I, Bergman R, Spiegel R, Eytan O, Geller S, Peleg S, Shomron N, Goh CSM, Wilson NJ, Smith FJD, Pohler E, Simpson MA, McLean WHI, Irvine AD, Horowitz M, McGrath JA, Green KJ, Sprecher E. Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting. Nat Genet. 2013 Oct; 45(10):1244-1248. PMID: 23974871.
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    210. Saha S, McGrath J, Scott J. Service use for mental health problems in people with delusional-like experiences: a nationwide population based survey. PLoS One. 2013; 8(8):e71951. PMID: 23991012.
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    211. Fu DJ, Thomson C, Lunny DP, Dopping-Hepenstal PJ, McGrath JA, Smith FJD, Irwin McLean WH, Leslie Pedrioli DM. Keratin 9 is required for the structural integrity and terminal differentiation of the palmoplantar epidermis. J Invest Dermatol. 2014 Mar; 134(3):754-763. PMID: 23962810.
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    212. Salam A, Simpson MA, Stone KL, Takeichi T, Nanda A, Akiyama M, McGrath JA. Next generation diagnostics of heritable connective tissue disorders. Matrix Biol. 2014 Jan; 33:35-40. PMID: 23896220.
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    213. Vivehanantha S, Carr RA, McGrath JA, Taibjee SM, Madhogaria S, Ilchyshyn A. Epidermolysis bullosa pruriginosa: a case with prominent histopathologic inflammation. JAMA Dermatol. 2013 Jun; 149(6):727-31. PMID: 23616197.
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    214. Petrof G, Abdul-Wahab A, Proudfoot L, Pramanik R, Mellerio JE, McGrath JA. Serum levels of high mobility group box 1 correlate with disease severity in recessive dystrophic epidermolysis bullosa. Exp Dermatol. 2013 Jun; 22(6):433-5. PMID: 23711070.
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    215. Frans EM, Sandin S, Reichenberg A, L?ngstr?m N, Lichtenstein P, McGrath JJ, Hultman CM. Autism risk across generations: a population-based study of advancing grandpaternal and paternal age. JAMA Psychiatry. 2013 May; 70(5):516-21. PMID: 23553111.
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    216. Krunic AL, Stone KL, Simpson MA, McGrath JA. Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A. Pediatr Dermatol. 2013 Sep-Oct; 30(5):e87-8. PMID: 23534700.
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    217. Lozano R, Naghavi M, Foreman K, Lim S, Shibuya K, Aboyans V, Abraham J, Adair T, Aggarwal R, Ahn SY, Alvarado M, Anderson HR, Anderson LM, Andrews KG, Atkinson C, Baddour LM, Barker-Collo S, Bartels DH, Bell ML, Benjamin EJ, Bennett D, Bhalla K, Bikbov B, Bin Abdulhak A, Birbeck G, Blyth F, Bolliger I, Boufous S, Bucello C, Burch M, Burney P, Carapetis J, Chen H, Chou D, Chugh SS, Coffeng LE, Colan SD, Colquhoun S, Colson KE, Condon J, Connor MD, Cooper LT, Corriere M, Cortinovis M, de Vaccaro KC, Couser W, Cowie BC, Criqui MH, Cross M, Dabhadkar KC, Dahodwala N, De Leo D, Degenhardt L, Delossantos A, Denenberg J, Des Jarlais DC, Dharmaratne SD, Dorsey ER, Driscoll T, Duber H, Ebel B, Erwin PJ, Espindola P, Ezzati M, Feigin V, Flaxman AD, Forouzanfar MH, Fowkes FG, Franklin R, Fransen M, Freeman MK, Gabriel SE, Gakidou E, Gaspari F, Gillum RF, Gonzalez-Medina D, Halasa YA, Haring D, Harrison JE, Havmoeller R, Hay RJ, Hoen B, Hotez PJ, Hoy D, Jacobsen KH, James SL, Jasrasaria R, Jayaraman S, Johns N, Karthikeyan G, Kassebaum N, Keren A, Khoo JP, Knowlton LM, Kobusingye O, Koranteng A, Krishnamurthi R, Lipnick M, Lipshultz SE, Ohno SL, Mabweijano J, MacIntyre MF, Mallinger L, March L, Marks GB, Marks R, Matsumori A, Matzopoulos R, Mayosi BM, McAnulty JH, McDermott MM, McGrath J, Mensah GA, Merriman TR, Michaud C, Miller M, Miller TR, Mock C, Mocumbi AO, Mokdad AA, Moran A, Mulholland K, Nair MN, Naldi L, Narayan KM, Nasseri K, Norman P, O'Donnell M, Omer SB, Ortblad K, Osborne R, Ozgediz D, Pahari B, Pandian JD, Rivero AP, Padilla RP, Perez-Ruiz F, Perico N, Phillips D, Pierce K, Pope CA, Porrini E, Pourmalek F, Raju M, Ranganathan D, Rehm JT, Rein DB, Remuzzi G, Rivara FP, Roberts T, De Le?n FR, Rosenfeld LC, Rushton L, Sacco RL, Salomon JA, Sampson U, Sanman E, Schwebel DC, Segui-Gomez M, Shepard DS, Singh D, Singleton J, Sliwa K, Smith E, Steer A, Taylor JA, Thomas B, Tleyjeh IM, Towbin JA, Truelsen T, Undurraga EA, Venketasubramanian N, Vijayakumar L, Vos T, Wagner GR, Wang M, Wang W, Watt K, Weinstock MA, Weintraub R, Wilkinson JD, Woolf AD, Wulf S, Yeh PH, Yip P, Zabetian A, Zheng ZJ, Lopez AD, Murray CJ, AlMazroa MA, Memish ZA. Global and regional mortality from 235 causes of death for 20 age groups in 1990 and 2010: a systematic analysis for the Global Burden of Disease Study 2010. Lancet. 2012 Dec 15; 380(9859):2095-128. PMID: 23245604.
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    221. Abdul-Wahab A, Petrof G, McGrath JA. Bone marrow transplantation in epidermolysis bullosa. Immunotherapy. 2012 Dec; 4(12):1859-67. PMID: 23240753.
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    222. McGrath JA, Stone KL, Begum R, Simpson MA, Dopping-Hepenstal PJ, Liu L, McMillan JR, South AP, Pourreyron C, McLean WH, Martinez AE, Mellerio JE, Parsons M. Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility. Am J Hum Genet. 2012 Dec 7; 91(6):1115-21. PMID: 23176819.
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    223. Cho RJ, Simpson MA, McGrath JA. Next-generation diagnostics for genodermatoses. J Invest Dermatol. 2012 Nov 15; 132(E1):E27-8. PMID: 23154629.
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    224. Cho RJ, Simpson MA, McGrath JA. Next-Generation Diagnostics for Genodermatoses. J Invest Dermatol. 2012 Nov; 132 Suppl 3:E27-8. PMID: 26875439.
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    225. Pohler E, Mamai O, Hirst J, Zamiri M, Horn H, Nomura T, Irvine AD, Moran B, Wilson NJ, Smith FJ, Goh CS, Sandilands A, Cole C, Barton GJ, Evans AT, Shimizu H, Akiyama M, Suehiro M, Konohana I, Shboul M, Teissier S, Boussofara L, Denguezli M, Saad A, Gribaa M, Dopping-Hepenstal PJ, McGrath JA, Brown SJ, Goudie DR, Reversade B, Munro CS, McLean WH. Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. Nat Genet. 2012 Nov; 44(11):1272-6. PMID: 23064416.
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    226. Oommen S, Francois M, Kawasaki M, Murrell M, Kawasaki K, Porntaveetus T, Ghafoor S, Young NJ, Okamatsu Y, McGrath J, Koopman P, Sharpe PT, Ohazama A. Cytoplasmic plaque formation in hemidesmosome development is dependent on SoxF transcription factor function. PLoS One. 2012; 7(9):e43857. PMID: 22962592.
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    227. Wada M, Masuda K, Tsuruta D, Tamai K, Lai-Cheong JE, McGrath JA, Katoh N. Case of Kindler syndrome resulting from mutation in the FERMT1 gene. J Dermatol. 2012 Dec; 39(12):1057-8. PMID: 22672060.
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    228. Granger RH, Marshman G, Liu L, McGrath JA. Late diagnosis of ectodermal dysplasia syndrome. Australas J Dermatol. 2013 Feb; 54(1):46-8. PMID: 22670871.
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    229. Ng YZ, Pourreyron C, Salas-Alanis JC, Dayal JH, Cepeda-Valdes R, Yan W, Wright S, Chen M, Fine JD, Hogg FJ, McGrath JA, Murrell DF, Leigh IM, Lane EB, South AP. Fibroblast-derived dermal matrix drives development of aggressive cutaneous squamous cell carcinoma in patients with recessive dystrophic epidermolysis bullosa. Cancer Res. 2012 Jul 15; 72(14):3522-34. PMID: 22564523.
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    230. Tanaka A, Weinel S, Nagy N, O'Driscoll M, Lai-Cheong JE, Kulp-Shorten CL, Knable A, Carpenter G, Fisher SA, Hiragun M, Yanase Y, Hide M, Callen J, McGrath JA. Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome. Am J Hum Genet. 2012 Mar 09; 90(3):511-7. PMID: 22341969.
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    231. McGrath JA. Profilaggrin, dry skin, and atopic dermatitis risk: size matters. J Invest Dermatol. 2012 Jan; 132(1):10-1. PMID: 22158606.
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    232. Boyce AE, McGrath JA, Techanukul T, Murrell DF, Chow CW, McGregor L, Warren LJ. Ectodermal dysplasia-skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene. Australas J Dermatol. 2012 Feb; 53(1):61-5. PMID: 22309335.
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    233. Rodr?guez FA, Gana MJ, Yubero MJ, Zillmann G, Kr?mer SM, Catal?n J, Rubio-Astudillo J, Gonz?lez S, Liu L, Ozoemena L, Mellerio JE, Mellerio JM, McGrath JA, Palisson F, Conget P. Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa. J Dermatol Sci. 2012 Feb; 65(2):149-52. PMID: 22209565.
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    234. Uitto J, Christiano AM, McLean WH, McGrath JA. Novel molecular therapies for heritable skin disorders. J Invest Dermatol. 2012 Mar; 132(3 Pt 2):820-8. PMID: 22158553.
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    235. Liu L, Dopping-Hepenstal PJ, Lovell PA, Michael M, Horn H, Fong K, Lai-Cheong JE, Mellerio JE, Parsons M, McGrath JA. Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression. J Invest Dermatol. 2012 Mar; 132(3 Pt 1):742-4. PMID: 22113475.
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    236. Lai-Cheong JE, Moss C, Parsons M, Almaani N, McGrath JA. Revertant mosaicism in Kindler syndrome. J Invest Dermatol. 2012 Mar; 132(3 Pt 1):730-2. PMID: 22089829.
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    237. Pavlovic S, Krunic AL, Bulj TK, Medenica MM, Fong K, Arita K, McGrath JA. Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder. Pediatr Dermatol. 2012 May-Jun; 29(3):258-63. PMID: 22066523.
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    238. Lai-Cheong JE, McGrath JA. Next-generation diagnostics for inherited skin disorders. J Invest Dermatol. 2011 Oct; 131(10):1971-3. PMID: 21918571.
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    239. Di Iorio E, Kaye SB, Ponzin D, Barbaro V, Ferrari S, B?hm E, Nardiello P, Castaldo G, McGrath JA, Willoughby CE. Limbal stem cell deficiency and ocular phenotype in ectrodactyly-ectodermal dysplasia-clefting syndrome caused by p63 mutations. Ophthalmology. 2012 Jan; 119(1):74-83. PMID: 21959367.
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    240. van den Akker PC, Jonkman MF, Rengaw T, Bruckner-Tuderman L, Has C, Bauer JW, Klausegger A, Zambruno G, Castiglia D, Mellerio JE, McGrath JA, van Essen AJ, Hofstra RM, Swertz MA. The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations. Hum Mutat. 2011 Oct; 32(10):1100-7. PMID: 21681854.
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    241. Saha S, Scott JG, Johnston AK, Slade TN, Varghese D, Carter GL, McGrath JJ. The association between delusional-like experiences and suicidal thoughts and behaviour. Schizophr Res. 2011 Nov; 132(2-3):197-202. PMID: 21813264.
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    242. Petrof G, Fong K, Lai-Cheong JE, Cockayne SE, McGrath JA. Sch?pf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A. Australas J Dermatol. 2011 Aug; 52(3):224-6. PMID: 21834823.
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    243. Wedgeworth EK, Nagy N, White JM, Pembroke AC, McGrath JA. Intra-familial variability of ectodermal defects associated with WNT10A mutations. Acta Derm Venereol. 2011 May; 91(3):346-7. PMID: 21279306.
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    244. Lai-Cheong JE, McGrath JA. What is Kindler syndrome? Skinmed. 2011 May-Jun; 9(3):145-6. PMID: 21675491.
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    245. Almaani N, Liu L, Dopping-Hepenstal PJ, Lai-Cheong JE, Wong A, Nanda A, Moss C, Martin?z AE, Mellerio JE, McGrath JA. Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa. Acta Derm Venereol. 2011 May; 91(3):262-6. PMID: 21448560.
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    246. Techanukul T, Sethuraman G, Zlotogorski A, Horev L, Macarov M, Trainer A, Fong K, Lens M, Medenica L, Ramesh V, McGrath JA, Lai-Cheong JE. Novel and recurrent FERMT1 gene mutations in Kindler syndrome. Acta Derm Venereol. 2011 May; 91(3):267-70. PMID: 21336475.
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    247. McGrath JA. Pachyonychia congenita: cast in translation. J Invest Dermatol. 2011 May; 131(5):995. PMID: 21494233.
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    248. Saha S, Scott J, Varghese D, McGrath J. The association between physical health and delusional-like experiences: a general population study. PLoS One. 2011 Apr 25; 6(4):e18566. PMID: 21541344.
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    249. Nagy N, Almaani N, Tanaka A, Lai-Cheong JE, Techanukul T, Mellerio JE, McGrath JA. HB-EGF induces COL7A1 expression in keratinocytes and fibroblasts: possible mechanism underlying allogeneic fibroblast therapy in recessive dystrophic epidermolysis Bullosa. J Invest Dermatol. 2011 Aug; 131(8):1771-4. PMID: 21471992.
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    250. 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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    251. 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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    252. 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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    253. 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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    254. 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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    255. 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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    256. 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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    257. 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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    258. 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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    259. 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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    260. 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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    261. 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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    262. 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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    263. 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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    264. 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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    265. 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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    266. 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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    267. 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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    268. 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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    269. Fassihi H, McGrath JA. Prenatal diagnosis of epidermolysis bullosa. Dermatol Clin. 2010 Apr; 28(2):231-7, viii. PMID: 20447485.
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    270. 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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    271. 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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    272. 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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    273. McGrath JA, Bolling MC, Jonkman MF. Lethal acantholytic epidermolysis bullosa. Dermatol Clin. 2010 Jan; 28(1):131-5. PMID: 19945626.
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    274. McGrath JA, Mellerio JE. Ectodermal dysplasia-skin fragility syndrome. Dermatol Clin. 2010 Jan; 28(1):125-9. PMID: 19945625.
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    275. 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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    276. Lai-Cheong JE, McGrath JA. Kindler syndrome. Dermatol Clin. 2010 Jan; 28(1):119-24. PMID: 19945624.
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    277. 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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    278. 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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    279. 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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    280. 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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    281. 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 1; 122(Pt 11):1788-99. PMID: 19435799.
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    282. 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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    283. 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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    284. 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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    285. 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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    286. 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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    287. 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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    288. 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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    289. 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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    290. 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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    291. 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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    292. 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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    293. 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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    294. 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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    295. 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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    296. Lai-Cheong JE, Arita K, McGrath JA. Genetic diseases of junctions. J Invest Dermatol. 2007 Dec; 127(12):2713-25. PMID: 18007692.
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    297. 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.
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    298. 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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    299. 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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    300. 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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    301. 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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    302. 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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    303. 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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    304. 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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    305. 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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    306. 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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    307. 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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    308. 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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    309. 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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    310. 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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    311. 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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    312. 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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    313. McGrath JA, Mellerio JE. Epidermolysis bullosa. Br J Hosp Med (Lond). 2006 Apr; 67(4):188-91. PMID: 16681305.
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    314. 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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    315. McGrath JA. Inherited disorders of desmosomes. Australas J Dermatol. 2005 Nov; 46(4):221-9. PMID: 16197419.
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    316. 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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    317. 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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    318. 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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    319. 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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    320. 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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    321. 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.
      Citations:    
    322. 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.
      Citations:    
    323. 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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    324. 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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    325. 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.
      Citations:    
    326. 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.
      Citations:    
    327. McGrath JA. Translational benefits from research on rare genodermatoses. Australas J Dermatol. 2004 May; 45(2):89-93. PMID: 15068453.
      Citations:    
    328. 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.
      Citations:    
    329. McGrath JA. Keratinocyte heal thyself: a new form of "natural gene therapy". J Invest Dermatol. 2004 Jan; 122(1):x-xi. PMID: 14962118.
      Citations:    
    330. McGrath JA. Biologic lessons from mutations in the Kreb's cycle enzyme, fumarate hydratase. J Invest Dermatol. 2003 Oct; 121(4):vii. PMID: 14632173.
      Citations:    
    331. 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.
      Citations:    
    332. 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.
      Citations:    
    333. 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.
      Citations:    
    334. 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.
      Citations:    
    335. 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.
      Citations:    
    336. 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.
      Citations:    
    337. 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.
      Citations:    
    338. 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.
      Citations:    
    339. 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.
      Citations:    
    340. 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.
      Citations:    
    341. 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.
      Citations:    
    342. 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.
      Citations:    
    343. Ashton GH, McGrath JA, South AP. Strategies to identify disease genes. Drugs Today (Barc). 2002 Apr; 38(4):235-44. PMID: 12532192.
      Citations:    
    344. 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 1; 11(7):833-40. PMID: 11929856.
      Citations:    
    345. 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.
      Citations:    
    346. 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.
      Citations:    
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