Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia
Cardoso, S R, Ryan, G, Walne, A J, Ellison, A, Lowe, R, Tummala, H, Rio-Machin, A, Collopy, L, Al Seraihi, A, Wallis, Y, Page, P, Akiki, S, Fitzgibbon, J, Vulliamy, T, Dokal, I
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Published in Leukemia (01.10.2016)
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Mutations in the telomere capping complex in bone marrow failure and related syndromes
Walne, Amanda J, Bhagat, Tanya, Kirwan, Michael, Gitiaux, Cyril, Desguerre, Isabelle, Leonard, Norma, Nogales, Elena, Vulliamy, Tom, Dokal, Inderjeet S
Published in Haematologica (Roma) (01.03.2013)
Published in Haematologica (Roma) (01.03.2013)
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Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis
Walne, Amanda J, Collopy, Laura, Cardoso, Shirleny, Ellison, Alicia, Plagnol, Vincent, Albayrak, Canan, Albayrak, Davut, Kilic, Sara Sebnem, Patıroglu, Turkan, Akar, Haluk, Godfrey, Keith, Carter, Tina, Marafie, Makia, Vora, Ajay, Sundin, Mikael, Vulliamy, Thomas, Tummala, Hemanth, Dokal, Inderjeet
Published in Haematologica (Roma) (01.10.2016)
Published in Haematologica (Roma) (01.10.2016)
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X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
Heiss, Nina S, Knight, Stuart W, Vulliamy, Tom J, Klauck, Sabine M, Wiemann, Stefan, Mason, Philip J, Poustka, Annemarie, Dokal, Inderjeet
Published in Nature genetics (01.05.1998)
Published in Nature genetics (01.05.1998)
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A ribosome-related signature in peripheral blood CLL B cells is linked to reduced survival following treatment
Sbarrato, T, Horvilleur, E, Pöyry, T, Hill, K, Chaplin, L C, Spriggs, R V, Stoneley, M, Wilson, L, Jayne, S, Vulliamy, T, Beck, D, Dokal, I, Dyer, M J S, Yeomans, A M, Packham, G, Bushell, M, Wagner, S D, Willis, A E
Published in Cell death & disease (02.06.2016)
Published in Cell death & disease (02.06.2016)
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Effects of MSC co-injection on the reconstitution of aplastic anemia patient following hematopoietic stem cell transplantation
Jaganathan, B G, Tisato, V, Vulliamy, T, Dokal, I, Marsh, J, Dazzi, F, Bonnet, D
Published in Leukemia (01.10.2010)
Published in Leukemia (01.10.2010)
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Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal‐Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1
Knight, S. W., Heiss, N. S., Vulliamy, T. J., Aalfs, C. M., McMahon, C., Richmond, P., Jones, A., Hennekam, R. C. M., Poustka, A., Mason, P. J., Dokal, I.
Published in British journal of haematology (01.11.1999)
Published in British journal of haematology (01.11.1999)
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Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2
Vulliamy, T, Beswick, R, Kirwan, MJ, Hossain, U, Walne, AJ, Dokal, I
Published in Clinical genetics (01.01.2012)
Published in Clinical genetics (01.01.2012)
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Glucose-6-phosphate dehydrogenase deficiency
Mehta, Atul, Mason, Philip J., Vulliamy, Tom J.
Published in Bailliere's best practice & research. Clinical haematology (01.03.2000)
Published in Bailliere's best practice & research. Clinical haematology (01.03.2000)
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Reduced-intensity conditioning using fludarabine and antithymocyte globulin alone allows stable engraftment in a patient with dyskeratosis congenita
Vuong, L G, Hemmati, P G, Neuburger, S, Terwey, T H, Vulliamy, T, Dokal, I, le Coutre, P, Dörken, B, Arnold, R
Published in Acta haematologica (01.01.2010)
Published in Acta haematologica (01.01.2010)
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Non-TBI stem cell transplantation protocol for Fanconi anaemia using HLA-compatible sibling and unrelated donors
DE LA FUENTE, J, REISS, S, MCCLOY, M, VULLIAMY, T, ROBERTS, I. A. G, RAHEMTULLA, A, DOKAL, I
Published in Bone marrow transplantation (Basingstoke) (01.10.2003)
Published in Bone marrow transplantation (Basingstoke) (01.10.2003)
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Molecular Basis and Enzymatic Properties of Glucose 6-Phosphate Dehydrogenase Volendam, Leading to Chronic Nonspherocytic Anemia, Granulocyte Dysfunction, and Increased Susceptibility to Infections
Roos, Dirk, van Zwieten, Rob, Wijnen, Juul T., Gómez-Gallego, Felix, de Boer, Martin, Stevens, David, Pronk-Admiraal, Claudia J., de Rijk, Thea, van Noorden, Cornelis J.F., Weening, Ron S., Vulliamy, Tom J., Ploem, J. Eduard, Mason, Philip J., Bautista, José M., Khan, P. Meera, Beutler, Ernest
Published in Blood (01.11.1999)
Published in Blood (01.11.1999)
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The molecular basis of glucose-6-phosphate dehydrogenase deficiency
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Book Review
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Hematologically Important Mutations: Glucose-6-Phosphate Dehydrogenase
Vulliamy, Tom, Luzzatto, Lucio, Hirono, Akira, Beutler, Ernest
Published in Blood cells, molecules, & diseases (01.08.1997)
Published in Blood cells, molecules, & diseases (01.08.1997)
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X-Linked Dyskeratosis Congenita Is Predominantly Caused by Missense Mutations in the DKC1 Gene
Knight, S.W., Heiss, N.S., Vulliamy, T.J., Greschner, S., Stavrides, G., Pai, G.S., Lestringant, G., Varma, N., Mason, P.J., Dokal, I., Poustka, A.
Published in American journal of human genetics (01.07.1999)
Published in American journal of human genetics (01.07.1999)
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Dyskeratosis Congenita Caused by a 3′ Deletion: Germline and Somatic Mosaicism in a Female Carrier
Vulliamy, T.J., Knight, S.W., Heiss, N.S., Smith, O.P., Poustka, A., Dokal, I., Mason, P.J.
Published in Blood (15.08.1999)
Published in Blood (15.08.1999)
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