Richard Beswick

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

Tom Vulliamy, Richard Beswick, Michael Kirwan et al. · Proceedings of the National Academy of Sciences · 2008 · 325 citations · Full text

Genome Instability, Short Telomeres, Genetic Disorder +12

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 et al. · Blood · 2008 · 309 citations · Full text

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 et al. · Human Molecular Genetics · 2007 · 306 citations · Full text

Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome

Anna Marrone, Amanda J. Walne, Hannah Tamary et al. · Blood · 2007 · 173 citations · Full text

Bone Marrow Failure, Mendelian Disorder, Genetic Disorder +13

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

Michael Kirwan, Tom Vulliamy, Anna Marrone et al. · Human Mutation · 2009 · 110 citations