Amanda J. Walne

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

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