| The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB JD Fine, RAJ Eady, EA Bauer, JW Bauer, L Bruckner-Tuderman, ... Journal of the American Academy of Dermatology 58 (6), 931-950, 2008 | 1212 | 2008 |
| Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification JD Fine, L Bruckner-Tuderman, RAJ Eady, EA Bauer, JW Bauer, C Has, ... Journal of the American Academy of Dermatology 70 (6), 1103-1126, 2014 | 1053 | 2014 |
| Accumulation of Krebs cycle intermediates and over-expression of HIF1α in tumours which result from germline FH and SDH mutations PJ Pollard, JJ Briere, NA Alam, J Barwell, E Barclay, NC Wortham, T Hunt, ... Human molecular genetics 14 (15), 2231-2239, 2005 | 1020 | 2005 |
| Anatomy and organization of human skin JA McGrath, RAJ Eady, FM Pope Rook’s textbook of dermatology 1, 3.2-3.80, 2004 | 615 | 2004 |
| Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa JD Fine, RAJ Eady, EA Bauer, RA Briggaman, L Bruckner-Tuderman, ... Journal of the American Academy of Dermatology 42 (6), 1051-1066, 2000 | 578 | 2000 |
| Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility C Has, JW Bauer, C Bodemer, MC Bolling, L Bruckner‐Tuderman, A Diem, ... British Journal of Dermatology 183 (4), 614-627, 2020 | 549 | 2020 |
| Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome JA McGrath, JR McMillan, CS Shemanko, SK Runswick, IM Leigh, ... Nature genetics 17 (2), 240-244, 1997 | 486 | 1997 |
| Hay–Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63 JA McGrath, PHG Duijf, V Doetsch, AD Irvine, R Waal, KRJ Vanmolkot, ... Human molecular genetics 10 (3), 221-230, 2001 | 458 | 2001 |
| Bone marrow transplantation for recessive dystrophic epidermolysis bullosa JE Wagner, A Ishida-Yamamoto, JA McGrath, M Hordinsky, DR Keene, ... New England Journal of Medicine 363 (7), 629-639, 2010 | 424 | 2010 |
| Alopecia Universalis Associated with a Mutation in the Human hairless Gene W Ahmad, M Faiyaz ul Haque, V Brancolini, HC Tsou, S Ul Haque, ... Science 279 (5351), 720-724, 1998 | 417 | 1998 |
| Mutations in the 180–kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa JA McGrath, B Gatalica, AM Christiano, K si, K Owaribe, JR McMillan, ... Nature genetics 11 (1), 83-86, 1995 | 406 | 1995 |
| Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization. WH McLean, L Pulkkinen, FJ Smith, EL Rugg, EB Lane, F Bullrich, ... Genes & development 10 (14), 1724-1735, 1996 | 401 | 1996 |
| Germline NLRP1 mutations cause skin inflammatory and cancer susceptibility syndromes via inflammasome activation FL Zhong, O Mamaï, L Sborgi, L Boussofara, R Hopkins, K Robinson, ... Cell 167 (1), 187-202. e17, 2016 | 391 | 2016 |
| Autoantibodies to extracellular matrix protein 1 in lichen sclerosus N Oyama, I Chan, SM Neill, T Hamada, AP South, V Wessagowit, ... The Lancet 362 (9378), 118-123, 2003 | 390 | 2003 |
| Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin–extracellular-matrix linker protein UNC-112, causes Kindler syndrome DH Siegel, GHS Ashton, HG Penagos, JV Lee, HS Feiler, KC Wilhelmsen, ... The American Journal of Human Genetics 73 (1), 174-187, 2003 | 383 | 2003 |
| The role of fibroblasts in tissue engineering and regeneration T Wong, JA McGrath, H Navsaria British Journal of Dermatology 156 (6), 1149-1155, 2007 | 382 | 2007 |
| Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1) T Hamada, WHI McLean, M Ramsay, GHS Ashton, A Nanda, T Jenkins, ... Human molecular genetics 11 (7), 833-840, 2002 | 374 | 2002 |
| Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting L Samuelov, O Sarig, RM Harmon, D Rapaport, A Ishida-Yamamoto, ... Nature genetics 45 (10), 1244-1248, 2013 | 343 | 2013 |
| The filaggrin story: novel insights into skin-barrier function and disease JA McGrath, J Uitto Trends in molecular medicine 14 (1), 20-27, 2008 | 331 | 2008 |
| A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome E Maestrini, AP Monaco, JA McGrath, A Ishida-Yamamoto, C Camisa, ... Nature genetics 13 (1), 70-77, 1996 | 319 | 1996 |
