S. W. Knight

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 · 961 citations

Life Sciences, Genetics, Molecular Genetics +4

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 · 340 citations · Full text

Life Sciences, Dermatology, Genetics +16

X-Linked Dyskeratosis Congenita Is Predominantly Caused by Missense Mutations in the DKC1 Gene

S. W. Knight, Nina S. Heiss, T. Vulliamy et al. · The American Journal of Human Genetics · 1999 · 264 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal‐Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, <i>DKC1</i>

S. W. Knight, Nina S. Heiss, Tom Vulliamy et al. · British Journal of Haematology · 1999 · 227 citations

Medicine, Genetics, Molecular Genetics +14

Very Short Telomeres in the Peripheral Blood of Patients with X-Linked and Autosomal Dyskeratosis Congenita

Tom Vulliamy, S. W. Knight, Philip J. Mason et al. · Blood Cells Molecules and Diseases · 2001 · 226 citations

Life Sciences, Genetics, Molecular Genetics +12