Nick S. T. Thomas

机构：King's College Hospital

发表论文 55 篇 · 总被引 6794 次 · h-index 31

代表论文

• Human Gene Mutation Database (HGMD®): 2003 update (2003 · Human Mutation · 被引 1881)
• The Human Gene Mutation Database: 2008 update (2009 · Genome Medicine · 被引 892)
• X–linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein (1996 · Nature Genetics · 被引 761)
• Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing (2006 · Human Mutation · 被引 379)
• Frame-Shift Deletions in Patients with Duchenne and Becker Muscular Dystrophy (1988 · Science · 被引 285)
• Human Gene Mutation Database?A biomedical information and research resource (2000 · Human Mutation · 被引 277)