Tom Vulliamy

Overview

Best Publications

• X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

  Nina S. Heiss;Stuart W. Knight;Tom J. Vulliamy;Sabine M. Klauck

  1168
  Citations

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

  Tom Vulliamy;Anna Marrone;Frederick Goldman;Andrew Dearlove

  1135
  Citations

• The Human Phenotype Ontology in 2017

  Sebastian Köhler;Nicole A. Vasilevsky;Mark Engelstad;Erin D. Foster

  826
  Citations

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

  Tom Vulliamy;Anna Marrone;Richard Szydlo;Amanda Walne

  535
  Citations

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

  Tom J. Vulliamy;Tom J. Vulliamy;Tom J. Vulliamy;Anna Marrone;Anna Marrone;Anna Marrone;Stuart W. Knight;Stuart W. Knight;Stuart W. Knight;Amanda Walne;Amanda Walne;Amanda Walne

  399
  Citations

• Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita

  Tom Vulliamy;Richard Beswick;Michael Kirwan;Anna Marrone

  374
  Citations

• Hematologically important mutations: glucose-6-phosphate dehydrogenase.

  Ernest Beutler;Tom Vulliamy;Lucio Luzzatto

  371
  Citations

• 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;Richard Beswick

  371
  Citations

• Glucose-6-phosphate dehydrogenase deficiency

  Atul Mehta;Philip J. Mason;Tom J. Vulliamy

  361
  Citations

• Inflammatory Skin and Bowel Disease Linked to ADAM17 Deletion

  Diana C. Blaydon;Paolo Biancheri;Wei Li Di;Vincent Plagnol

  353
  Citations

• Association between aplastic anaemia and mutations in telomerase RNA

  Tom Vulliamy;Anna Marrone;Inderjeet Dokal;Philip J Mason

  341
  Citations

• 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;Thomas J Vulliamy;Richard Beswick;Michael Kirwan

  341
  Citations

• Isolation of human glucose-6-phosphate dehydrogenase (G6PD) cDNA clones: primary structure of the protein and unusual 5' non-coding region.

  M G Persico;G Viglietto;G Martini;D Toniolo

  331
  Citations

• Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia

  T J Vulliamy;M D'Urso;G Battistuzzi;M Estrada

  316
  Citations

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

  S.W. Knight;N.S. Heiss;T.J. Vulliamy;S. Greschner

  295
  Citations

• Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.

  Amanda J. Walne;Tom Vulliamy;Michael Kirwan;Vincent Plagnol

  285
  Citations

• Structural analysis of the X-linked gene encoding human glucose 6-phosphate dehydrogenase.

  G. Martini;D. Toniolo;T. Vulliamy;L. Luzzatto

  280
  Citations

• Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita.

  Tom J Vulliamy;Stuart W Knight;Philip J Mason;Inderjeet Dokal

  279
  Citations

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

  S. W. Knight;N. S. Heiss;T. J. Vulliamy;C. M. Aalfs

  260
  Citations

• Dyskeratosis Congenita (DC) Registry: identification of new features of DC.

  Stuart Knight;Tom Vulliamy;Adrian Copplestone;Eliane Gluckman

  235
  Citations