Tom Vulliamy - Concepedia

Author

Tom Vulliamy

Also Known As

T J Vulliamy, T Vulliamy, T. J. Vulliamy, T. VULLIAMY, T. Vulliamy, T.J. Vulliamy, Tom J Vulliamy, Tom J. VULLIAMY, Tom J. Vulliamy, Tom Vulliamy

173

Publications

12.9K

Citations

H-Index

141

Concepts

All Affiliations

Hammersmith Hospital Queen Mary University of London University College London Imperial College London Birmingham Children's Hospital

About

Tom Vulliamy is an author at Hammersmith Hospital specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	37	51	6.8K
2	Natural Sciences	15	16	2.1K
3	Public Health	4	4	217
4	Engineering	3	3	1K
5	Health Sciences	2	2	39

Tom Vulliamy

Publications

10.2K

Citations

H-Index

Page 1

	Year	Citations
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita Tom Vulliamy, Anna Marrone, Frederick D. Goldman, Nature Genome InstabilityEngineeringGenetic DisorderGeneticsRna Biology	2001	948
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions Nina S. Heiss, S. W. Knight, Tom Vulliamy, Nature Genetics Genome InstabilityMendelian DisorderGenetic DisorderNatural SciencesGenetics	1998	944
Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC Tom Vulliamy, Anna Marrone, Richard Szydlo, Nature Genetics Mendelian DisorderGenetic DisorderGeneticsDyskeratosis CongenitaClinical Genetics	2004	459
Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation Tom Vulliamy, Anna Marrone, S. W. Knight, Blood	2005	335
Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita Tom Vulliamy, Richard Beswick, Michael Kirwan, Proceedings of the National Academy of Sciences Genome InstabilityShort TelomeresGenetic DisorderMedicineGenetics	2008	325
TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes Amanda J. Walne, Tom Vulliamy, Richard Beswick, Blood	2008	309
Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10 Amanda J. Walne, Tom Vulliamy, Anna Marrone, Human Molecular Genetics	2007	306
Inflammatory Skin and Bowel Disease Linked to<i>ADAM17</i>Deletion Diana C. Blaydon, Paolo Biancheri, Wei‐Li Di, New England Journal of Medicine Chronic Inflammatory DiseasesImmunodeficienciesImmunologyGastroenterologyPathology	2011	304
Association between aplastic anaemia and mutations in telomerase RNA Tom Vulliamy, Anna Marrone, Inderjeet Dokal, The Lancet ChromatinGenome InstabilityGenetic DisorderGeneticsMolecular Biology	2002	274
Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia. Tom Vulliamy, Michele D’Urso, G. Battistuzzi, Proceedings of the National Academy of Sciences GeneticsHuman PolymorphismMolecular BiologyPathologySingle Point Mutation	1988	252

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