Nick Thomas - Concepedia

Author

Nick Thomas

Also Known As

N S T Thomas, N S Thomas, N Thomas, N. S. T. Thomas, N. Thomas, N.S.T. Thomas, Neil Thomas, Nick S. T. Thomas, Nick S. Thomas, Nick S.T Thomas

Publications

6.6K

Citations

H-Index

Concepts

All Affiliations

Cardiff University University of Wales Hospital for Sick Children University Medical Center Hamburg-Eppendorf University of Toronto

About

Nick Thomas is an author at Cardiff University specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	21	22	4K
2	Natural Sciences	4	4	585
3	Public Health	4	4	2K
4	Engineering	1	1	26
5	Health Sciences	1	1	54

Nick Thomas

Publications

6.2K

Citations

H-Index

Page 1

	Year	Citations
Human Gene Mutation Database (HGMD<sup>®</sup>): 2003 update Peter D. Stenson, Edward V. Ball, Matthew Mort, Human Mutation GeneticsGenetic EpidemiologyPathologyDisease Gene IdentificationGenomics	2003	1.8K
The Human Gene Mutation Database: 2008 update Peter D. Stenson, Matthew Mort, Edward V. Ball, Genome Medicine	2009	880
X–linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein Juha Kere, Anand Srivastava, Outi Montonen, Nature Genetics Developmental BiologyMendelian DisorderGenetic DisorderDevelopmental GeneticsGenetics	1996	753
Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing Michael Krawczak, Nick Thomas, Bernd Hundrieser, Human Mutation	2006	361
Frame-Shift Deletions in Patients with Duchenne and Becker Muscular Dystrophy Sonal Malhotra, K Hart, Henry J. Klamut, Science KinesiologyMendelian DisorderDmd GeneDuchenne Muscular DystrophyGenetics	1988	285
Human Gene Mutation Database?A biomedical information and research resource Michael Krawczak, Edward V. Ball, Iain Fenton, Human Mutation	2000	276
Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy Valeria Ricotti, Deborah Ridout, E. Scott, Journal of Neurology Neurosurgery & Psychiatry	2012	255
Genotype–phenotype correlations in X-linked myotubular myopathy Meriel McEntagart, Gretchen Parsons, Anna Buj‐Bello, Neuromuscular Disorders Genetic DisorderGeneticsGenotype–phenotype CorrelationsPathologyMedicine	2002	151
Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer Clesson Turner, Christina Killoran, Nick Thomas, Human Genetics Genetic DiseasesMitochondrial TransplantationMitochondrial FunctionGenetic DisorderNatural Sciences	2003	146
Localisation of the Becker muscular dystrophy gene on the short arm of the X chromosome by linkage to cloned DNA sequences Helen Kingston, M. Sarfarazi, Nick Thomas, Human Genetics ChromatinShort ArmMendelian DisorderGenetic DisorderX Chromosome	1984	120

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