Tom Vulliamy

Tom Vulliamy

Queen Mary University of London - London / United Kingdom
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 1371668
person_outline Tom Vulliamy's MOST POPULAR ARTICLES
1-) X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functionsNS Heiss, SW Knight, TJ Vulliamy, SM Klauck, S Wiemann, PJ Mason, ...Nature genetics 19 (1), 32-38, 199811141998
2-) The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenitaT Vulliamy, A Marrone, F Goldman, A Dearlove, M Bessler, PJ Mason, ...Nature 413 (6854), 432-435, 200111102001
3-) Glucose-6-phosphate dehydrogenase deficiencyL Luzzatto, A Mehta, T VulliamyThe metabolic and molecular bases of inherited disease 3, 4517-4553, 20016552001
4-) The human phenotype ontology in 2017S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ...Nucleic acids research 45 (D1), D865-D876, 20176382017
5-) Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERCT Vulliamy, A Marrone, R Szydlo, A Walne, PJ Mason, I DokalNature genetics 36 (5), 447-449, 20045552004