John A. McGrath

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

Jo‐David Fine, Robin A.J. Eady, Eugene A. Bauer et al. · Journal of the American Academy of Dermatology · 2008 · 933 citations

Medicine, Dermatology, Pathology +6

Accumulation of Krebs cycle intermediates and over-expression of HIF1α in tumours which result from germline FH and SDH mutations

Patrick J. Pollard, J.-J. Brière, Neyaz Alam et al. · Human Molecular Genetics · 2005 · 849 citations · Full text

Medicine, Genetics, Oncology +17

Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation

Franklin L. Zhong, Ons Mamaï, Lorenzo Sborgi et al. · Cell · 2016 · 429 citations · Full text

Medicine, Dermatology, Molecular Genetics +14

Alopecia Universalis Associated with a Mutation in the Human <i>hairless</i> Gene

Wasim Ahmad, Muhammad Faiyaz ul Haque, Valeria Brancolini et al. · Science · 1998 · 414 citations

Life Sciences, Genetics, Molecular Genetics +17

Revised classification system for inherited epidermolysis bullosa

Jo‐David Fine, Robin A.J. Eady, Eugene A. Bauer et al. · Journal of the American Academy of Dermatology · 2000 · 404 citations

Medicine, Dermatology, Pathology +7