Home| Chair of Child Health |
Lead, Centre for Paediatrics |
Publications since 2001
• McCloy M, Almeida A, Daly P, Vulliamy T, Roberts IAG, Dokal I . Fludarabine based stem cell transplantation protocol for Fanconi's anaemia in myelodysplastic transformation. British Journal of Haematology 2001; 112:427-429.
• Vulliamy TJ, Knight SW, Mason PJ, Dokal I . Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita. Blood Cells, Molecules, and Diseases 2001; 27: 353-357.
• Knight SW, Vulliamy TJ, Morgan B, devriendt K, Mason P, Dokal I . Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis. Human Genetics 2001; 108: 299-303.
• Amrolia PJ, Vulliamy T, Vassiliou G, Lawson S, Bryon J, Kaeda J, Dokal I , Johnston R, Veys P, Darbyshire P, Roberts IAG. Analysis of chimerism in thalassaemic children undergoing stem cell transplantation. British Journal of Haematology 2001; 114: 219-225.
• Dokal I . Management of aplastic anaemia. Postgraduate Doctor 2001; 24: 113-116.
• Vulliamy T, Marrone A, Goldman F, Dearlove A, Bessler M, Mason PJ, Dokal I . The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature 2001; 413: 432-435.
• Dokal I . Dyskeratosis congenita: A disease of premature ageing. Lancet Supplement 2001; s27.
• Dokal I . Inherited bone marrow failure. The Hematology Journal 2002; 3:S2:141-147.
• Vulliamy T, Marrone A, Dokal I , Mason PJ. Association between aplastic anaemia and mutations in telomerase RNA. Lancet 2002;359:2168-2170.
• de la Feunte J, Deenmamode M, Dokal I . Detection of implanted splenic tissue using 99mTechnicium -heat-damaged autologous red cells. British Journal of Haematology 2002;118:2.
• He J, Navarrete S, Jasinski M, Vulliamy T, Dokal I , Bessler M, Mason PJ. Targeted disruption of Dkc1 , the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice. Oncogene 2002;21:7740-7744.
• Cossu F, Vulliamy TJ, Marrone A, Badiali M, Cao A, Dokal I . A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK-SCID) and bone marrow transplantation in an infant with Hoyeraal_Hreidarsson syndrome. British Journal of Haematology 2002; 119: 765-768.
• Lawson SE, Roberts IAG, Amrolia P, Dokal I , Szydlo R, Darbyshire PJ. Bone marrow transplantation for b -thalassaemia: the UK experience. British Journal of Haematology 2003; 120: 289-295.
• Dokal I . Inherited aplastic anaemia. The Haematology Journal 2003; 4: 3-9.
• Knoblauch H, Tennstedt C, Brueck W, Hammer H, Vulliamy T, Dokal I , Lehman R, Hanefeld F, Tinschert S. Two brothers with findings resembling congenital intrauterine infection-like syndrome (Pseudo-TORCH syndrome). American Journal of Medical Genetics 2003; 120A: 261-265.
• de la Fuente J, Reiss S, McCloy M, Vulliamy T, Roberts IAG, Rahemtulla A, Dokal I . Non-TBI stem cell transplantation protocol for Fanconi anaemia using HLA-compatible sibling and unrelated donors. Bone Marrow Transplantation 2003; 32: 653-656.
• Dokal I , Vulliamy T. Dyskeratosis congenita: its link to telomerase and aplastic anaemia. Blood Reviews 2003; 17: 217-225.
• Sznajer Y, Baumann C, David A, Journel H, Lacombe D, Perel Y, Segura JF, Cezard JP, Peuchmaur M, Vulliamy T, Dokal I , Verloes A. Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome). European Journal of Pediatrics 2003; 162: 863-867.
• Vulliamy T, Marrone A, Szydlo R, Walne A, Mason PJ, Dokal I . Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC . Nature Genetics 2004; 36: 447-449.
• Keith WN, Vulliamy T, Zhao J, Ar C, Erzik C, Bisland A, Ulku B, Marrone A, Mason PJ, Bessler M, Serakinci N, Dokal I. 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 2004; 4: 3-11.
• Tischkowitz M, Dokal I . Fanconi anaemia and leukaemia - Clinical and Molecular aspects. British Journal of Haematology 2004; 126: 176-191.
• de Grey ADNJ, Campbell FC, Dokal I , Fairbairn LJ, Ggraham GJ, Jahoda CAB, Porter ACG. Total deletion of in vivo telomere elongation capacity: an ambitious but possibly ultimate cure of all age-related human cancers. Annals of the New York Academy of Sciences 2004; 1019: 147-170.
• Marrone A, Stevens D, Vulliamy T, Dokal I , Mason PJ. Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency. Blood 2004; 104: 3936-3942.
• Walne AJ, Dokal I . Telomerase dysfunction and dyskeratosis congenita. Cytotechnology 2004; 45: 13-22.
• Marrone A, Dokal I . Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer. Expert Reviews in Experimental Medicine 2004; 6: 1-23.
• Pancham S, Hemmaway C, New H, Albert E, Dokal I , Roberts IA, McCloy M. Caspofungin for invasive fungal infections: Combination treatment with liposomal amphotericin B in children undergoing haemopoietic stem cell transplantation. Pediatric Transplantation 2005; 9: 254-257.
• Ip P, Knight R, Dokal I , Manzur AY, Muntoni F. Peripheral neuropathy - a novel finding in dyskeratosis congenita. European Journal of Paediatric Neurology 2005; 9: 85-89.
• Vulliamy TJ, Walne A, Baskaradas A, Mason PJ, Marrone A, Dokal I . Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. Blood Cells, Molecules, and Diseases 2005; 43: 257-263.
• Marrone A, Walne A, Dokal I . Dyskeratosis congenita: Telomerase, telomeres and anticipation. Current Opinion in Genetics and Development 2005; 15: 249-257.
• Meetei AR, Medhurst AL, Ling C, Xue Y, Singh TR, Bier P, Steltenpool J, Stone S, Dokal I , Mathew CG, Hoatlin M, Joenje H, de Winter JP, Wang W.A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi Anemia complementation group M. Nature Genetics 2005, 37: 958-963.
• Walne A, Marrone A, Dokal I . Dyskeratosis congenita: a disorder of defective telomere maintenance? International Journal of Hematology 2005, 82: 184-189.
• Vulliamy TJ, Marrone A, Knight SW, Walne A, Mason PJ, Dokal I . Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. Blood 2006, 107: 2680-2685.
• Rmasamy K, Lim ZY, Savvas M, Salisbury JR, Dokal I , Mufti GJ, Pagliuca A. Disseminated herpes virus (HSV-2) infection with rhabdomyolysis and hemophagocytic lympho-histiocytosis in a patient with bone marrow failure syndrome. Annals of Hematology 2006, 85 (9): 629-630.
• Dokal I . Dyskeratosis congenita: a cancer prone syndrome associated with telomerase deficiency. Hematology - the European Hematology Association education program 2006, 2: 29-35.
• Vulliamy TJ, Dokal I . Dyskeratosis congenita. Seminars in Hematology 2006, 43:157-166.
• Marrone A, Dokal I . Dyskeratosis congenita: a disorder of telomerase deficiency and its relationship to other genetic diseases. Expert Review in Dermatology 2006 ; 1(3): 463-479.
• Dokal I . Fanconi anaemia and related bone marrow failure syndromes. British Medical Bulletin 2006, 77-78: 37-53.
• Pllunkett FJ, Franzese O, Finney HM, Fletcher JM, Belaramani LL, Salmon M, Dokal I , Webster D, Lawson AD, Akbar AN. The loss of telomerase activity in highly differentiated CD8+CD28-CD27- T cells is associated with decreased Akt (ser473) phosphorylation. Journal of Immunology 2007, 178: 7710-7719.
• Walne AJ, Vulliamy T, Marrone A, Beswick R, Kirwan M, Masunari, Y, Al-Qurashi F, Aljurf M, Dokal I . Genetic Heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. Human Molecular Genetics 2007, 16: 1619-1629.
• Marrone A, Sokhal P, Walne A, Beswick R, Kirwan M, Killick S, Williams M, Marsh J, Vulliamy T, Dokal I . Functional characterisation of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations. Haematologica 2007, 92: 1013-1020.
• de la Fuente J, Dokal I . Dyskeratosis congenita: Advances in the understanding of the telomerase defect and the role of stem cell transplantation. Pediatric Transplantation 2007, 11: 584-594 .
• Amarasinghe K, Dalley C, Dokal I , Laurie A, Gupta V, Marsh J. Late death after unrelated-BMT for dyskeratosis congenita following conditioning with alemtuzumab, fludarabine and melphalan. Bone Marrow Transplantation 2007; 40: 913-914.
• 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
• Vulliamy T, Dokal I . Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex. Biochimie 2008, 90: 122-130.
• Kirwan M, Dokal I. Dyskeratosis congenita: a genetic disorder of many faces. Clinical Genetics 2008, 73: 103-112.
• Walne A, Dokal I . Dyskeratosis congenita: A historical perspective. Mechanisms of Ageing and Development 2008, 129: 48-59.
• Kirwan M, Vulliamy T, Beswick R, Walne A, Casimir C, Dokal I. Circulating haematopoietic progenitors are differentially reduced amongst sub-types of dyskeratosis congenita. British Journal of Haematology 2008, 140: 719-722.
• Dokal I , Vulliamy T. Inherited aplastic anaemias/bone marrow failure syndromes. Blood Reviews 2008, 22: 141-153.
• Dokal I. Dissecting “stress” in Fanconi anemia. Blood 2008, 111: 1756-1757.
• Dokal I. Fanconi anemia is a highly penetrant cancer susceptibility syndrome. Haematologica 2008, 93: 486-488.
• Basel-Vanagaite L, Dokal I, Tamary H, Avigdor A, Zion Garty B, Volkov A, Vulliamy T. Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations. Haematologica 2008, 93: 943-944.
• Vulliamy T, Beswick R, Kirwan M, Marrone A, Digweed M, Walne A, Dokal I. Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. Proceedings of the National Academy of Sciences ( USA ) 2008, 105: 8073-8078.
• Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I. TINF2 mutations result in very short telomeres: Analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. Blood 2008, 112: 3594-3600.
• Tsangaris E, Adams SL, Yoon G, Chitayat D, Lansdorp P, Dokal I, Dror Y. Ataxia pancytopenia caused by mutations in TINF2. Human Genetics 2008, 124: 507-513.
• Kirwan M, Beswick R, Vulliamy T, Nathwani AC, Walne AJ, Casimir C, Dokal I. Exogenous TERC alone can enhance proliferative potential , telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients. British Journal of Haematology . In press.
• Walne AJ, Dokal I. Advances in the understanding of Dyskeratosis Congenita. British Journal of Haematology . In press.
• Ahmed A, Dokal I. Understanding aplastic anaemia/bone marrow failure syndromes. Paediatrics and Child Health . In press.
• Kirwan M, Dokal I. Dyskeratosis congenita, stem cells and telomeres. Biochimica et Biophysica Acta . In press.
Book chapters
• Tipping AJ, Vulliamy TJ, Morgan NV, Dokal I . Molecular diagnostics in Fanconi anaemia and dyskeratosis congenita. In Methods in Molecular Medicine: Pediatric Hematology Methods and Protocols. The Humana Press. Editors NJ Goulden & CG Steward; 2004, 91: 3-17.
• Dokal I . Inherited aplastic anaemia/bone marrow failure syndromes. In Postgraduate Haematology 5 th Edition. Blackwell publishing. Editors V Hoffbrand, D Catovsky, E Tuddenham ; 2005, 12: 176-189.
• Dokal I and Vulliamy T. Telomerase deficiency and human disease. In Telomeres 2 nd edition. Cold Spring Harbor Laboratory press. Editors de Lange T, Lundblad V, Blackburn E. 2006, 6:139-161.
• Liu JM, Dokal I . Constitutional aplastic anemias. In Clinical Hematology. Elsevier press. Editors Young NS, Gerson SL, High KA. 2006, 11: 158-168.
• Dokal I and Lewis SM. Diagnostic Radionuclides in Haematology. In Dacie and Lewis Practical Haematology, 10 th Edition. Elsevier press. Editors Lewis SM, Bain BJ, Bates I. 2006, 15: 357-378.
• Roberts IAG and Dokal IS . Chronic myeloid leukaemia. In Pediatric Hematology, 3 rd Edition. Editors Arceci RJ, Hann I,M and Smith OP 2006, pp 384-404.
Book
• Oxford Handbook of Clinical Haematology, 3 rd Edition. Oxford University Press. Editors D Provan, R Sanger, T Baglin, I Dokal . In press.