T. Vulliamy

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 · 260 citations · Full text

Missense Mutations, Dkc1 Gene, Mendelian Disorder +8

Isolation of human glucose-6-pbosphate debydrogenase (G6PD) cDNA clones: primary structure of the protein and unusual 5' non-coding region

M. Graziella Persico, Giuseppe Viglietto, G. Martini et al. · Nucleic Acids Research · 1986 · 244 citations · Full text

Mutations in the telomere capping complex in bone marrow failure and related syndromes

A. J. Walne, Tushar D. Bhagat, M. Kirwan et al. · Haematologica · 2012 · 112 citations · Full text

Cytogenetics, Genetics, Genetic Epidemiology +17

Skewed X-Inactivation in Carriers of X-Linked Dyskeratosis Congenita

T. Vulliamy, S. W. Knight, Inderjeet Dokal et al. · Blood · 1997 · 70 citations · Full text

Exome sequencing identifies MPL as a causative gene in familial aplastic anemia

A. J. Walne, Arran Dokal, Vincent Plagnol et al. · Haematologica · 2011 · 49 citations · Full text