John G. Compton

发表论文 71 篇 · 总被引 9334 次 · h-index 37

代表论文

• Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis (2006 · Nature Genetics · 被引 2989)
• Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris (2006 · Nature Genetics · 被引 1043)
• Assuring the quality of next-generation sequencing in clinical laboratory practice (2012 · Nature Biotechnology · 被引 475)
• An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities (2011 · Genetics in Medicine · 被引 456)
• Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis (1995 · Nature Genetics · 被引 364)
• Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis (1998 · Nature Genetics · 被引 346)