Nick Thomas
King's College Hospital(GB)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Neurofibromatosis and Schwannoma Cases, RNA modifications and cancer, RNA Research and Splicing, Meningioma and schwannoma management
Most-Cited Works
- → Human Gene Mutation Database (HGMD®): 2003 update(2003)1,855 cited
- → The Human Gene Mutation Database: 2008 update(2009)882 cited
- → X–linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein(1996)755 cited
- → Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing(2006)367 cited
- → Frame-Shift Deletions in Patients with Duchenne and Becker Muscular Dystrophy(1988)285 cited
- → Human Gene Mutation Database?A biomedical information and research resource(2000)276 cited
- → Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy(2012)256 cited
- → Neurofibromatosis type 1-associated tumours: Their somatic mutational spectrum and pathogenesis(2011)156 cited
- → Genotype–phenotype correlations in X-linked myotubular myopathy(2002)152 cited
- → Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer(2003)147 cited