HomeSenior Lecturer in Molecular Biology |
Publications since 2001
• McCloy M, Almeida P, Daly P, Vulliamy T, Roberts IAG, Dokal I (2001) Fludarabine-based stem cell transplantation protocol for Fanconi's anaemia in myelodysplastic transformation. British Journal of Haematology 112 , 427-429.
• Vulliamy TJ, Knight SW, Mason PJ, Dokal I (2001) Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita. Blood Cells Molecules and Diseases 27 , 353-357.
• Knight SW, Vulliamy TJ, Morgan B, Devriendt K, Mason PJ, Dokal I (2001) Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis. Human Genetics 108 , 299-303.
• Amrolia PJ*, Vassiliou G*, Vulliamy T*, Lawson S, Byron J, Kaeda J, Veys P, Dokal I, Roberts IAG (2001) Analysis of chimerism in thalassaemic children undergoing stem cell transplantaion. British Journal of Haematology 114 , 219-225.
• Vulliamy T, Marrone A, Goldman F, Dearlove A, Bessler M, Mason PJ, Dokal I (2001) The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 413 , 432-435.
• Mesbah-Namin SA, Sanati MH, Mowjoodi A, Mason PJ, Vulliamy TJ, Noori-Daloii MR (2002) Three major G6PD deficient polymorphic variants identified in Mazandaran state of Iran. British Journal of Haematology 117 , 763-764.
• Beutler E, Vulliamy T (2002) Haematologically important mutations: glucose-6-phosphate dehydrogenase. Blood Cells Molecules and Diseases 28 , 93-103.
• Vulliamy TJ, Marrone A, Dokal I, Mason PJ (2002) Association between aplastic anaemia and mutations in telomerase RNA. Lancet 359 , 2168-2170.
• Cossu F, Vulliamy TJ, Badiali M, Cao A, Dokal I (2002) Bone marrow transplantation in an infant with Hoyerall-Hreidarrson syndrome associated with severe combined immune deficiency (T+B-NK- SCID) and a novel DKC1 mutation. British Journal of Haematology 119 , 765-768.
• He J, Navarrete S, Jasinski M, Vulliamy T, Dokal I, Bessler M, Mason PJ. (2002) Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice. Oncogene 21 , 7740-7744.
• Clarke JL, Vulliamy TJ, Roper D, Mesbah-Namin SA, Wild BJ, Walker JI, Will AM, Bolton-Maggs PH, Mason PJ, Layton DM. (2003) Combined glucose-6-phosphate dehydrogenase and glucosephosphate isomerase deficiency can alter clinical outcome. Blood Cells Molecules and Diseases 30 , 258-263 .
• Knoblauch H, Tennstedt C, Brueck W, Hammer H, Vulliamy T, Dokal I, Lehmann R, Hanefeld F, Tinschert S. (2003) Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome). American Journal of Medical Genetics 120A , 261-265.
• De La Fuente J, Vulliamy T, McCloy M, Roberts IAG, Rahematulla A, Dokal I (2003) Non-TBI stem cell transplantation protocol for Fanconi anaemia using HLA-compatible sibling and unrelated donors. Bone Marrow Transplantation 32 , 653-656.
• Dokal I, Vulliamy T (2003) Dyskeratosis congenita: its link to telomerase and aplastic anaemia. Blood Reviews 17 , 217-225
• Sodeinde O, Clarke JL, Vulliamy TJ, Luzzatto L, Mason PJ. (2003) Expression of Plasmodium falciparum G6PD-6PGL in laboratory parasites and in patient isolates in G6PD-deficient and normal Nigerian children. British Journal of Haematology 122 , 662-668.
• Tipping AJ, Vulliamy TJ, Morgan NV, Dokal I (2003) Molecular diagnosis in fanconi anaemia and dyskeratosis congenital. Methods in Molecular Medicine , 91 , 3-18
• Sznajer Y, Baumann C, David A, Journel H, Lacombe D, Perel Y, Blouin P, Segura JF, Cezard JP, Peuchmaur M, Vulliamy T, Dokal I, Verloes A. (2003) Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome). European Journal of Pediatrics 162 , 863-867 .
• Avery S, Nadal E, Marin D, Olavarria E, Kaeda J, Vulliamy T, Goldman JM, Apperley JF (2004) Lymphoid transformation in a patient in complete cytogenetic remission following treatment with imatinib. Leukaemia Research 28 , Suppl 1, 75-77.
• Vulliamy T, Marrone A, Szydlo R, Walne A, Mason PJ, Dokal I (2004) Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nature Genetics 36 , 447-449
• Keith WN, Vulliamy T, Zhao J, Cem Ar, Erzik C, Bilsland A, Ulku B, Marrone A, Mason PJ, Bessler M, Serakinci N, Dokal I (2004) A mutation in a functional Sp1 binding site of the telomerase RNA gene (hTERC) promoter in a patient with Paroxysmal Nocturnal Haemoglobinuria. BMC Blood Disorders 4 , 3-7.
• Marrone A, Stevens D, Vulliamy T, Dokal I, Mason PJ. (2004) Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency. Blood 104 , 3936-3942.
• Lim F, Vulliamy T, Abdalla SH. (2005) An Ashkenazi Jewish woman presenting with favism. Journal of Clinical Pathology 58 , 317-319.
• Vulliamy TJ, Walne A, Baskaradas A, Mason PJ, Marrone A, Dokal I. (2005) Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. Blood Cells Molecules and Diseases 34 :257-263.
• Repiso A, Corrons JL, Vulliamy T, Killeen N, Layton M, Carreras J, Climent F. (2005) New haplotype for the Glu104Asp mutation in triose-phosphate isomerase deficiency and prenatal diagnosis in a Spanish family. Journal of Inherited Metabolic Disorders 28 : 807-809.
• Barisic M, Korac J, Pavlinac I, Krzelj V, Marusic E, Vulliamy T, Terzic J. (2005) Characterization of G6PD deficiency in southern Croatia: description of a new variant, G6PD Split. Journal of Human Genetics 50 , 547-549.
• Percy MJ, Crowley LJ, Roper D, Vulliamy TJ, Layton DM, Barber MJ (2005) Identification and characterization of the novel FAD-binding lobe G75S mutation in cytochrome b5 reductase: an aid to determine recessive congenital methaemoglobinemia status in an infant. Blood Cells Molecules and Diseases 36 , 81-90.
• Vulliamy TJ, Marrone M, Knight S, Walne A, Mason PJ and Dokal I (2006) Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. Blood 107 , 2680-2685.
• De Araujo C, Migot-Nabias F, Guitard J, Pelleau S, Vulliamy T, Ducrocq R (2006) Glucose-6-phosphate dehydrogenase deficiency in Senegal : the G6PD A- 376G/968C allele is the predominant cause of deficiency in the Sereer ethnic group. Haematologica 91 , 262-263.
• Vulliamy T, Dokal I (2006) Dyskeratosis congenita. Seminars in Hematology 43 , 157-166
• Walne AJ, Vulliamy T, Beswick R, Marrone A, Al-Qurashi F, Aljurf M, Dokal I (2007) Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase associated protein NOP10. Human Molecular Genetics 16 , 1619-1629
• Marrone A, Sokhal P, Walne A, Beswick R, Kirwan M, Killick S, Williams M, Marsh J, Vulliamy T, Dokal I (2007) Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations. Haematologica 92 , 1013-1020
• Vulliamy TJ, Dokal I (2007) Dyskeratosis congenita: The diverse clinical presentation of mutations in the telomerase complex. Biochimie In press.
• Marrone A, Walne A, Tamary H, Masunari Y, Kirwan M, Beswick R, Vulliamy T, Dokal I. Telomerase reverse transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. Blood 2007; 110: 4198-2205