John G. Compton

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

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

Erin B. Kaminsky, Vineith Kaul, Justin Paschall et al. · Genetics in Medicine · 2011 · 444 citations · Full text

Intellectual Impairment, Psychiatry, Genetic Disorder +6

Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis

Laura Russell, John J. DiGiovanna, Geraldine R. Rogers et al. · Nature Genetics · 1995 · 362 citations

Mendelian Disorder, Genetic Disorder, Genetics +8

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

Gabriele Richard, Lisa E. Smith, Regina A. Bailey et al. · Nature Genetics · 1998 · 345 citations

Molecular Physiology, Genetics, Pathogenesis +4