Colin S. Munro

Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis

Alan D. Irvine, Ana Terron-Kwiatkowski, Yiwei Zhao et al. · Nature Genetics · 2006 · 2.9K citations

Major Predisposing Factor, Common Loss-of-function Variants, Atopic Dermatitis +8

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris

Frances J.D. Smith, Alan D. Irvine, Ana Terron-Kwiatkowski et al. · Nature Genetics · 2006 · 1K citations

Biology, Mendelian Disorder, Genetic Disorder +10

Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease

Anavaj Sakuntabhai, Víctor L. Ruiz‐Pérez, Simon Carter et al. · Nature Genetics · 1999 · 727 citations

Signal Transduction, Genetic Disorder, Genetics +6

Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema

Aileen Sandilands, Ana Terron-Kwiatkowski, Peter Hull et al. · Nature Genetics · 2007 · 660 citations

Allergy, Atopic Dermatitis, Genetic Disorder +11

Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

Yaran Wen, Yang Liu, Yiming Xu et al. · Nature Genetics · 2009 · 208 citations

Inhibitory Upstream Orf, Genetic Disorder, Natural Sciences +8