| X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions NS Heiss, SW Knight, TJ Vulliamy, SM Klauck, S Wiemann, PJ Mason, ... Nature genetics 19 (1), 32-38, 1998 | 1169 | 1998 |
| The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita T Vulliamy, A Marrone, F Goldman, A Dearlove, M Bessler, PJ Mason, ... Nature 413 (6854), 432-435, 2001 | 1154 | 2001 |
| The human phenotype ontology in 2017 S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ... Nucleic acids research 45 (D1), D865-D876, 2017 | 800 | 2017 |
| Glucose-6-phosphate dehydrogenase deficiency L Luzzatto, A Mehta, T Vulliamy The metabolic and molecular bases of inherited disease 3, 4517-4553, 2001 | 652 | 2001 |
| Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC T Vulliamy, A Marrone, R Szydlo, A Walne, PJ Mason, I Dokal Nature genetics 36 (5), 447-449, 2004 | 541 | 2004 |
| Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation TJ Vulliamy, A Marrone, SW Knight, A Walne, PJ Mason, I Dokal Blood 107 (7), 2680-2685, 2006 | 390 | 2006 |
| Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10 AJ Walne, T Vulliamy, A Marrone, R Beswick, M Kirwan, Y Masunari, ... Human molecular genetics 16 (13), 1619-1629, 2007 | 381 | 2007 |
| Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita T Vulliamy, R Beswick, M Kirwan, A Marrone, M Digweed, A Walne, ... Proceedings of the National Academy of Sciences 105 (23), 8073-8078, 2008 | 376 | 2008 |
| Glucose-6-phosphate dehydrogenase deficiency A Mehta, PJ Mason, TJ Vulliamy Best Practice & Research Clinical Haematology 13 (1), 21-38, 2000 | 375 | 2000 |
| TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes AJ Walne, T Vulliamy, R Beswick, M Kirwan, I Dokal Blood, The Journal of the American Society of Hematology 112 (9), 3594-3600, 2008 | 368 | 2008 |
| Inflammatory Skin and Bowel Disease Linked to ADAM17 Deletion DC Blaydon, P Biancheri, WL Di, V Plagnol, RM Cabral, MA Brooke, ... New England Journal of Medicine 365 (16), 1502-1508, 2011 | 355 | 2011 |
| Isolation of human glucose-6-pbosphate debydrogenase (G6PD) cDNA clones: primary structure of the protein and unusual 5'non-coding region MG Persico, G Viglietto, G Martini, D Toniolo, G Paonessa, C Moscatelli, ... Nucleic acids research 14 (6), 2511-2522, 1986 | 338 | 1986 |
| Association between aplastic anaemia and mutations in telomerase RNA T Vulliamy, A Marrone, I Dokal, PJ Mason The Lancet 359 (9324), 2168-2170, 2002 | 335 | 2002 |
| Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia. TJ Vulliamy, M D'urso, G Battistuzzi, M Estrada, NS Foulkes, G Martini, ... Proceedings of the National Academy of Sciences 85 (14), 5171-5175, 1988 | 317 | 1988 |
| X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene SW Knight, NS Heiss, TJ Vulliamy, S Greschner, G Stavrides, GS Pai, ... The American journal of human genetics 65 (1), 50-58, 1999 | 307 | 1999 |
| Structural analysis of the X‐linked gene encoding human glucose 6‐phosphate dehydrogenase. G Martini, D Toniolo, T Vulliamy, L Luzzatto, R Dono, G Viglietto, ... The EMBO journal 5 (8), 1849-1855, 1986 | 287 | 1986 |
| Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita TJ Vulliamy, SW Knight, PJ Mason, I Dokal Blood Cells, Molecules, and Diseases 27 (2), 353-357, 2001 | 275 | 2001 |
| Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal‐Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1 SW Knight, NS Heiss, TJ Vulliamy, CM Aalfs, C McMahon, P Richmond, ... British journal of haematology 107 (2), 335-339, 1999 | 255 | 1999 |
| Hematologically important mutations: glucose-6-phosphate dehydrogenase E Beutler, TJ Vulliamy Blood cells, molecules, and diseases 28 (2), 93-103, 2002 | 242 | 2002 |
| Constitutional mutations in RTEL1 cause severe dyskeratosis congenita AJ Walne, T Vulliamy, M Kirwan, V Plagnol, I Dokal The American Journal of Human Genetics 92 (3), 448-453, 2013 | 240 | 2013 |
