Michael Kirwan

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 · 330 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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 · 315 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 311 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita

Amanda J. Walne, Tom Vulliamy, Michael Kirwan et al. · The American Journal of Human Genetics · 2013 · 235 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 177 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17