Tom Vulliamy

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

Tom Vulliamy, Anna Marrone, Frederick D. Goldman et al. · Nature · 2001 · 948 citations

Genome Instability, Engineering, Genetic Disorder +7

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 et al. · Nature Genetics · 1998 · 944 citations

Genome Instability, Mendelian Disorder, Genetic Disorder +10

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

Tom Vulliamy, Anna Marrone, Richard Szydlo et al. · Nature Genetics · 2004 · 459 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +9

Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation

Tom Vulliamy, Anna Marrone, S. W. Knight et al. · Blood · 2005 · 335 citations · Full text

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