Nick Thomas

Human Gene Mutation Database (HGMD^®): 2003 update

Peter D. Stenson, Edward V. Ball, Matthew Mort et al. · Human Mutation · 2003 · 1.9K citations

Life Sciences, Genetics, Molecular Genetics +15

The Human Gene Mutation Database: 2008 update

Peter D. Stenson, Matthew Mort, Edward V. Ball et al. · Genome Medicine · 2009 · 883 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

X–linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

Juha Kere, Anand Srivastava, Outi Montonen et al. · Nature Genetics · 1996 · 756 citations

Life Sciences, Genetics, Molecular Genetics +13

Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing

Michael Krawczak, Nick Thomas, Bernd Hundrieser et al. · Human Mutation · 2006 · 368 citations

Life Sciences, Genetics, Molecular Genetics +14

Frame-Shift Deletions in Patients with Duchenne and Becker Muscular Dystrophy

Sonal Malhotra, K Hart, Henry J. Klamut et al. · Science · 1988 · 285 citations

Life Sciences, Genetics, Molecular Genetics +17