Vulliamy, Tom

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

Heiss, N. S., Knight, S. W., Vulliamy, T. J., Klauck, S. M., Wiemann, S., Mason, P. J., Poustka, A., & Dokal, I. (1998) · Nature Genetics

Blood disorders and treatmentsNuclear Structure and Function

Cited by 976

The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita

Vulliamy, T., Marrone, A., Goldman, F., Dearlove, A., Bessler, M., Mason, P. J., & Dokal, I. (2001) · Nature

Telomeres, Telomerase, and SenescenceBlood disorders and treatments

Cited by 960

Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC

Vulliamy, T., Marrone, A., Szydlo, R., Walne, A., Mason, P. J., & Dokal, I. (2004) · Nature Genetics

Telomeres, Telomerase, and SenescenceBlood disorders and treatments

Cited by 461

Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita

Vulliamy, T., Beswick, R., Kirwan, M., Marrone, A., Digweed, M., Walne, A., & Dokal, I. (2008) · Proceedings of the National Academy of Sciences

Telomeres, Telomerase, and SenescenceNuclear Structure and Function

Cited by 334

TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes

Walne, A. J., Vulliamy, T., Beswick, R., Kirwan, M., & Dokal, I. (2008) · Blood

Telomeres, Telomerase, and SenescenceBlood disorders and treatments

Cited by 317

Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10

Walne, A. J., Vulliamy, T., Marrone, A., Beswick, R., Kirwan, M., Masunari, Y., Al-Qurashi, F.-H., Aljurf, M., & Dokal, I. (2007) · Human Molecular Genetics

Telomeres, Telomerase, and SenescenceBlood disorders and treatments

Cited by 316

Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia

Kirwan, M., Vulliamy, T., Marrone, A., Walne, A. J., Beswick, R., Hillmen, P., Kelly, R., Stewart, A., Bowen, D., Schonland, S. O., et al. (2009) · Human Mutation

Telomeres, Telomerase, and SenescenceAcute Myeloid Leukemia Research

Cited by 109