| 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 | 1168 | 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 |
| Targeted disruption of the housekeeping gene encoding glucose 6‐phosphate dehydrogenase (G6PD): G6PD is dispensable for pentose synthesis but essential for defense against … PP Pandolfi, F Sonati, R Rivi, P Mason, F Grosveld, L Luzzatto The EMBO journal 14 (21), 5209-5215, 1995 | 650 | 1995 |
| 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 |
| Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG‐A gene. M Bessler, PJ Mason, P Hillmen, T Miyata, N Yamada, J Takeda, ... The EMBO journal 13 (1), 110-117, 1994 | 444 | 1994 |
| Identification of ATPases pontin and reptin as telomerase components essential for holoenzyme assembly AS Venteicher, Z Meng, PJ Mason, TD Veenstra, SE Artandi cell 132 (6), 945-957, 2008 | 420 | 2008 |
| 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 |
| G6PD deficiency: the genotype-phenotype association PJ Mason, JM Bautista, F Gilsanz Blood reviews 21 (5), 267-283, 2007 | 381 | 2007 |
| Mutations in the genes encoding 11β-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency N Draper, EA Walker, IJ Bujalska, JW Tomlinson, SM Chalder, W Arlt, ... Nature genetics 34 (4), 434-439, 2003 | 372 | 2003 |
| Glucose-6-phosphate dehydrogenase deficiency A Mehta, PJ Mason, TJ Vulliamy Best Practice & Research Clinical Haematology 13 (1), 21-38, 2000 | 372 | 2000 |
| 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 |
| 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 | 306 | 1999 |
| The role of human ribosomal proteins in the maturation of rRNA and ribosome production S Robledo, RA Idol, DL Crimmins, JH Ladenson, PJ Mason, M Bessler Rna 14 (9), 1918-1929, 2008 | 290 | 2008 |
| 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 | 254 | 1999 |
| Molecular cloning of the human Goodpasture antigen demonstrates it to be the alpha 3 chain of type IV collagen. N Turner, PJ Mason, R Brown, M Fox, S Povey, A Rees, CD Pusey The Journal of clinical investigation 89 (2), 592-601, 1992 | 243 | 1992 |
| Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing Y Mochizuki, J He, S Kulkarni, M Bessler, PJ Mason Proceedings of the National Academy of Sciences 101 (29), 10756-10761, 2004 | 239 | 2004 |
| Origin and spread of the glucose-6-phosphate dehydrogenase variant (G6PD-Mediterranean) in the Middle East. B Kurdi-Haidar, PJ Mason, A Berrebi, G Ankra-Badu, A Al-Ali, ... American journal of human genetics 47 (6), 1013, 1990 | 229 | 1990 |
| Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure TJ Vulliamy, A Walne, A Baskaradas, PJ Mason, A Marrone, I Dokal Blood Cells, Molecules, and Diseases 34 (3), 257-263, 2005 | 228 | 2005 |
| Dyskeratosis Congenita (DC) Registry: identification of new features of DC S Knight, T Vulliamy, A Copplestone, E Gluckman, P Mason, I Dokal British journal of haematology 103 (4), 990-996, 1998 | 224 | 1998 |
