Susan M. Morley

Compound Heterozygosity for Non-Sense and Mis-Sense Mutations in Desmoplakin Underlies Skin Fragility/Woolly Hair Syndrome

Neil V. Whittock, Hong Wan, Robin A.J. Eady et al. · Journal of Investigative Dermatology · 2002 · 147 citations · Full text

Mis-sense Mutations, Developmental Biology, Mendelian Disorder +6

A Homozygous Missense Mutation in TGM5 Abolishes Epidermal Transglutaminase 5 Activity and Causes Acral Peeling Skin Syndrome

Andrew Cassidy, Maurice A. M. Van Steensel, Peter M. Steijlen et al. · The American Journal of Human Genetics · 2005 · 135 citations · Full text

Autoimmune Disease, Cutaneous Biology, Homozygous Missense Mutation +6

Mutations in the Rod 1A Domain of Keratins 1 and 10 in Bullous Congenital Ichthyosiform Erythoderma (BCIE)

W.H. Irwin McLean, Robin A.J. Eady, Patricia J.C. Dopping-Hepenstal et al. · Journal of Investigative Dermatology · 1994 · 114 citations

Skin Development, Rod 1A, Developmental Biology +5

A Novel Connexin 30 Mutation in Clouston Syndrome

Frances J.D. Smith, W.H. Irwin McLean, Susan M. Morley · Journal of Investigative Dermatology · 2002 · 104 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +5

Ichthyosis Bullosa of Siemens–A Disease Involving Keratin 2e

W.H. Irwin McLean, Susan M. Morley, E. Birgitte Lane et al. · Journal of Investigative Dermatology · 1994 · 104 citations

Ichthyosis Bullosa, Pathogenesis, Histopathology +5