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Publications: Prof Thomas Vulliamy

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Savage SA, Bertuch AA, Ailments TTATCCCFT ( 2024 ) . Different phenotypes with different endings—Telomere biology disorders and cancer predisposition with long telomeres . British Journal of Haematology
Tummala H, Walne AJ, Badat M, Patel M, Walne AM, Alnajar J, Chow CC, Albursan I et al. ( 2024 ) . The evolving genetic landscape of telomere biology disorder dyskeratosis congenita . EMBO Molecular Medicine vol. 16 , ( 10 ) 2560 - 2582 .
Luzzatto L, Bancone G, Dugué P-A, Jiang W, Minucci A, Nannelli C, Pfeffer D, Prchal J et al. ( 2024 ) . New WHO classification of genetic variants causing G6PD deficiency . Bulletin of the World Health Organization vol. 102 , ( 8 ) 615 - 617 .
Tummala H, Walne A, Buccafusca R, Alnajar J, Szabo A, Robinson P, McConkie-Rosell A, Wilson M et al. ( 2024 ) . Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita . American Journal of Human Genetics vol. 111 , ( 7 )
Hakkarainen M, Kaaja I, Douglas SPM, Vulliamy T, Dokal I, Soulier J, Larcher L, Peffault de Latour R et al. ( 2023 ) . The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia . Blood vol. 141 , ( 23 ) 2853 - 2866 .
Armes H, Bewicke‐Copley F, Rio‐Machin A, Di Bella D, Philippe C, Wozniak A, Tummala H, Wang J et al. ( 2022 ) . Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment . British Journal of Haematology vol. 199 , ( 5 ) 754 - 764 .
Feurstein S, Luo X, Shah M, Walker T, Mehta N, Wu D, Godley LA, Panel OBOTMMVCE ( 2022 ) . Revision of RUNX1 variant curation rules . Blood Advances vol. 6 , ( 16 ) 4726 - 4730 .
Dokal I, Tummala H, Vulliamy T ( 2022 ) . Inherited bone marrow failure in the pediatric patient . Blood vol. 140 , ( 6 ) 556 - 570 .
Tummala H, Walne A, Buccafusca R, Alnajar J, Szabo A, Robinson P, McConkie-Rosell A, Wilson M et al. ( 2022 ) . Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita . American Journal of Human Genetics vol. 109 , ( 8 ) 1472 - 1483 .
Armes H, Rio-Machin A, Krizsán S, Bödör C, Kaya F, Bewicke-Copley F, Alnajar J, Walne A et al. ( 2022 ) . Acquired somatic variants in inherited myeloid malignancies . Leukemia vol. 36 , ( 5 ) 1377 - 1381 .
Armes H, Rio-Machin A, Krizsan S, Bodor C, Kaya F, Bewicke-Copley F, Alnajar J, Walne A et al. ( 2022 ) . Acquired somatic variants in inherited myeloid malignancies . LEUKEMIA vol. 36 , ( 5 ) 1377 - 1381 .
Walne AJ, Vulliamy T, Bewicke-Copley F, Wang J, Alnajar J, Bridger MG, Ma B, Tummala H et al. ( 2021 ) . Genome-wide whole-blood transcriptome profiling across inherited bone marrow failure subtypes . Blood Advances vol. 5 , ( 23 ) 5360 - 5371 .
Hakkarainen M, Douglas SPM, Vulliamy T, Dokal I, Soulier J, Larcher L, Niinimäki R, Siitonen T et al. ( 2021 ) . Multinational Study on the Clinical and Genetic Features of the ERCC6L2-Disease . Blood vol. 138 , ( Supplement 1 )
Norris K, Walne AJ, Ponsford MJ, Cleal K, Grimstead JW, Ellison A, Alnajar J, Dokal I et al. ( 2021 ) . High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders . Human Genetics vol. 140 , ( 6 ) 945 - 955 .
Dokal I, Tummala H, Vulliamy T, Walne A ( 2020 ) . A frameshift variant in the specificity protein 1 triggers superactivation of SP1-mediated transcription in familial bone marrow failure . Proceedings of the National Academy of Sciences of USA Article 32636268 ,
Rio-Machin A, Vulliamy T, Hug N, Walne A, Tawana K, Cardoso S, Ellison A, Pontikos N et al. ( 2020 ) . The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants . Nature Communications vol. 11 , ( 1 )
Roper D, Layton M, Rees D, Lambert C, Vulliamy T, De la Salle B, D'Souza C, British Society for Haematology ( 2020 ) . Laboratory diagnosis of G6PD deficiency. A British Society for Haematology Guideline . British Journal of Haematology
Luo X, Feurstein S, Mohan S, Porter CC, Jackson SA, Keel S, Chicka M, Brown AL et al. ( 2019 ) . ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants . Blood Advances vol. 3 , ( 20 ) 2962 - 2979 .
Dokal I, Vulliamy T ( 2019 ) . Germline NPM1 mutations lead to altered rRNA 2′-O-methylation and cause dyskeratosis congenita . Nature Genetics vol. 51 , 1518 - 1529 .
Rio‐Machin A, Vulliamy T, Hug N, Caceres JF, Fitzgibbon J, Dokal I ( 2019 ) . PF213 THE GENETIC LANDSCAPE OF FAMILIAL MDS/AML; RECURRING MUTATIONS IN THE RNA HELICASE DHX34 LEADING TO DEFECTS IN NONSENSE‐MEDIATED RNA DECAY . HemaSphere vol. 3 , ( S1 )
Brown AL, Armstrong M, Lawrence D, Wang P, Arts P, Duployez N, Churpek J, Tawana K et al. ( 2018 ) . Development of a Data Portal for Aggregation and Analysis of Genomics Data in Familial Platelet Disorder with Predisposition to Myeloid Malignancy - the RUNX1.DB . Blood vol. 132 , ( Supplement 1 )
Godley L, Luo X, Ross J, Jackson S, Agarwal A, Baliakas P, Bertuch AA, Brown AL et al. ( 2018 ) . Myeloid Malignancy Variant Curation Expert Panel: An ASH-Sponsored Clingen Expert Panel to Optimize and Validate Acmg/AMP Variant Interpretation Guidelines for Genes Associated with Inherited Myeloid Neoplasms . Blood vol. 132 , ( Supplement 1 )
DOKAL I, TUMMALA H, VULLIAMY T ( 2018 ) . homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes . Blood vol. 132 , 1349 - 1353 .
Tummala H, Dokal AD, Walne A, Ellison A, Cardoso S, Amirthasigamanipillai S, Kirwan M, Browne I et al. ( 2018 ) . Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants . Proc Natl Acad Sci U S A vol. 115 , ( 30 ) 7777 - 7782 .
Laffan MA, Vulliamy T, Schmitz E, Swisky D ( 2018 ) . Factor V Leiden and Sickle Cell Disease . Thrombosis and Haemostasis vol. 75 , ( 05 ) 859 - 860 .
Al Seraihi AF, Rio-Machin A, Tawana K, Bödör C, Wang J, Nagano A, Heward JA, Iqbal S et al. ( 2018 ) . GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML . Leukemia vol. 32 , ( 11 ) 2502 - 2507 .
Walne A, Tummala H, Ellison A, Cardoso S, Sidhu J, Sciuccati G, Vulliamy T, Dokal I ( 2018 ) . Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease . Haematologica vol. 103 , ( 7 ) e284 - e287 .
Al Seraihi AF, Rio-Machin A, Tawana K, Bodor C, Wang J, Nagano A, Heward JA, Iqbal S et al. ( 2018 ) . <i>GATA2</i> monoallelic expression underlies reduced penetrance in inherited <i>GATA2</i>-mutated MDS/AML . LEUKEMIA vol. 32 , ( 11 ) 2502 - 2507 .
Krishnamoorthy R, Ahouignan G, Laffan M, Rahimy M, Vulliamy T ( 2017 ) . The 20210A Allele of Prothrombin Is not Found among Sickle Cell Disease Patients from West Africa . Thrombosis and Haemostasis vol. 79 , ( 02 ) 444 - 445 .
Cardoso SR, Ellison ACM, Walne AJ, Cassiman D, Raghavan M, Kishore B, Ancliff P, Rodríguez-Vigil C et al. ( 2017 ) . Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies . Haematologica vol. 102 , ( 8 ) e293 - e296 .
Pontikos N, Yu J, Moghul I, Withington L, Blanco-Kelly F, Vulliamy T, Wong TLE, Murphy C et al. ( 2017 ) . Phenopolis: An open platform for harmonization and analysis of genetic and phenotypic data . Bioinformatics vol. 33 , ( 15 ) 2421 - 2423 .
GRIGG JM ( 2016 ) . Urinary prostanoids in preschool wheeze . European Respiratory Journal
Al Seraihi A, Rio-Machin A, Tawana K, Bödör C, Araf S, Heward JA, Smith M, Iqbal S et al. ( 2016 ) . Variable Penetrance Is Linked with Monoallelic Gene Expression in Inherited GATA2-Mutated MDS/AML . Blood . vol. 128 ,
Köhler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Aymé S, Baynam G, Bello SM et al. ( 2016 ) . The Human Phenotype Ontology in 2017 . Nucleic Acids Research vol. 45 , ( D1 ) d865 - d876 .
Pontikos N, Yu J, Blanco-Kelly F, Vulliamy T, Wong TL, Murphy C, Cipriani V, Fiorentino A et al. ( 2016 ) . Phenopolis: an open platform for harmonization and analysis of sequencing and phenotype data .
Walne AJ, Collopy L, Cardoso S, Ellison A, Plagnol V, Albayrak C, Albayrak D, Kilic SS et al. ( 2016 ) . Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis . Haematologica vol. 101 , ( 10 ) 1180 - 1189 .
Walton RT, Mudway IS, Dundas I, Marlin N, Koh LC, Aitlhadj L, Vulliamy T, Jamaludin JB et al. ( 2016 ) . Air pollution, ethnicity and telomere length in east London schoolchildren: An observational study . Environment International vol. 96 , 41 - 47 .
Tummala H, Walne AJ, Williams M, Bockett N, Collopy L, Cardoso S, Ellison A, Wynn R et al. ( 2016 ) . DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation . American Journal of Human Genetics vol. 99 , ( 1 ) 115 - 124 .
Sbarrato T, Horvilleur E, Pöyry T, Hill K, Chaplin LC, Spriggs RV, Stoneley M, Wilson L et al. ( 2016 ) . A ribosome-related signature in peripheral blood CLL B cells is linked to reduced survival following treatment . Cell Death and Disease vol. 7 , ( 6 ) e2249 - e2249 .
DOKAL I ( 2016 ) . Germline heterozygous DDX41 vriants in a subset of familial myelodysplasia and acute myeloid leukaemia . Leukemia
Suraweera N, Mouradov D, Li S, Jorissen RN, Hampson D, Ghosh A, Sengupta N, THAHA MA et al. ( 2016 ) . Relative telomere lengths in tumor and normal mucosa are related to disease progression and chromosome instability profiles in colorectal cancer . Oncotarget
Collins J, Tummala H, Collopy L, Vulliamy T, Dokal I ( 2016 ) . In-vitro analysis of the effects of TA65 and danazol on the proliferation and telomerase activity of T lymphocytes in bone marrow failure syndromes . The Lancet . vol. 387 ,
Vulliamy T, Kaeda J, Foroni L, Bain BJ ( 2016 ) . Molecular and cytogenetic analysis . Dacie and Lewis Practical Haematology, Eleventh Edition ,
Nwokoro C, Pandya H, Turner S, Eldridge S, Griffiths CJ, Vulliamy T, Price D, Sanak M et al. ( 2015 ) . Parent-determined oral montelukast therapy for preschool wheeze with stratification for arachidonate-5-lipoxygenase (ALOX5) promoter genotype . Efficacy and Mechanism Evaluation vol. 2 , ( 6 ) 1 - 126 .
Collopy LC, Walne AJ, Cardoso S, de la Fuente J, Mohamed M, Toriello H, Tamary H, Ling AJYV et al. ( 2015 ) . Triallelic and epigenetic-like inheritance in human disorders of telomerase . Blood vol. 126 , ( 2 ) 176 - 184 .
Tummala H, Walne A, Collopy L, Cardoso S, de la Fuente J, Lawson S, Powell J, Cooper N et al. ( 2015 ) . Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita . Journal of Clinical Investigation vol. 125 , ( 5 ) 2151 - 2160 .
Boufleur K, Scrideli CA, Valera E, Tone L, Vulliamy T, Arruda LK, Roxo P ( 2015 ) . DKC1 mutation causing different phenotypes in a family with X-linked Hoyeraal-Hreidarsson syndrome . World Allergy Organization Journal vol. 8 , ( Suppl 1 )
Dokal I, Vulliamy T, Mason P, Bessler M ( 2015 ) . Clinical utility gene card for: Dyskeratosis congenita - update 2015 . EUROPEAN JOURNAL OF HUMAN GENETICS vol. 23 , ( 4 )
Nwokoro C, Pandya H, Turner S, Eldridge S, Griffiths CJ, Vulliamy T, Price D, Sanak M et al. ( 2014 ) . Intermittent montelukast in children aged 10 months to 5 years with wheeze (WAIT trial): a multicentre, randomised, placebo-controlled trial . Lancet Respir Med vol. 2 , ( 10 ) 796 - 803 .
Dokal I, Vulliamy T, Mason P, Bessler M ( 2014 ) . Clinical utility gene card for: Dyskeratosis congenita . European Journal of Human Genetics
Collopy LC, Walne AJ, Vulliamy TJ, Dokal IS ( 2014 ) . Targeted resequencing of 52 bone marrow failure genes in patients with aplastic anemia reveals an increased frequency of novel variants of unknown significance only in SLX4 . Haematologica vol. 99 , ( 7 ) e109 - e111 .
Tummala H, Kirwan M, Walne AJ, Hossain U, Jackson N, Pondarre C, Plagnol V, Vulliamy T et al. ( 2014 ) . ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function . Am J Hum Genet vol. 94 , ( 2 ) 246 - 256 .
Drašar ER, Jiang J, Gardner K, Howard J, Vulliamy T, Vasavda N, Thein SL ( 2014 ) . Leucocyte telomere length in patients with sickle cell disease . British Journal of Haematology vol. 165 , ( 5 ) 725 - 727 .
Drasar E, Jiang J, Gardner K, Howard J, Vulliamy T, Vasavda N, Thein SL ( 2013 ) . Telomere Lengths Correlate With Inflammatory Markers In Sickle Cell Disease . Blood . vol. 122 ,
Islam A, Rafiq S, Kirwan M, Walne A, Cavenagh J, Vulliamy T, Dokal I ( 2013 ) . Haematological recovery in dyskeratosis congenita patients treated with danazol . Br J Haematol vol. 162 , ( 6 ) 854 - 856 .
lvis TV, María SB, Sabrine TF, Pérsio RJ, Barbara L-S, Tom V, Rodrigo TC, Carlos AS et al. ( 2013 ) . Does <i>DKC</i>1 Mutation Suffice to Define the Phenotype Severity of Hoyeraal-Hreidarsson Syndrome? . Open Journal of Blood Diseases vol. 03 , ( 01 ) 57 - 61 .
Walne AJ, Vulliamy T, Kirwan M, Plagnol V, Dokal I ( 2013 ) . Constitutional mutations in RTEL1 cause severe dyskeratosis congenita . Am J Hum Genet vol. 92 , ( 3 ) 448 - 453 .
Walne AJ, Bhagat T, Kirwan M, Gitiaux C, Desguerre I, Leonard N, Nogales E, Vulliamy T et al. ( 2013 ) . Mutations in the telomere capping complex in bone marrow failure and related syndromes . Haematologica vol. 98 , ( 3 ) 334 - 338 .
Koh LC, Kelly FJ, Griffiths C, Dundas I, Wood HE, Jamaludin JB, Mudway IS, Walton R et al. ( 2013 ) . Telomere length and lung function in healthy children . EUROPEAN RESPIRATORY JOURNAL vol. 42 ,
Aslan D, Akata RF, Holme H, Vulliamy T, Dokal I ( 2012 ) . Limbal stem cell deficiency in patients with inherited stem cell disorder of dyskeratosis congenita . Int Ophthalmol vol. 32 , ( 6 ) 615 - 622 .
Gleeson M, O'Marcaigh A, Cotter M, Brosnahan D, Vulliamy T, Smith OP ( 2012 ) . Retinal vasculopathy in autosomal dominant dyskeratosis congenita due to TINF2 mutation . Br J Haematol vol. 159 , ( 5 )
Holme H, Hossain U, Kirwan M, Walne A, Vulliamy T, Dokal I ( 2012 ) . Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia . Br J Haematol vol. 158 , ( 2 ) 242 - 248 .
Kirwan M, Walne AJ, Plagnol V, Velangi M, Ho A, Hossain U, Vulliamy T, Dokal I ( 2012 ) . Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia . Am J Hum Genet vol. 90 , ( 5 ) 888 - 892 .
Walne AJ, Dokal A, Plagnol V, Beswick R, Kirwan M, de la Fuente J, Vulliamy T, Dokal I ( 2012 ) . Exome sequencing identifies MPL as a causative gene in familial aplastic anemia . Haematologica vol. 97 , ( 4 ) 524 - 528 .
Jongmans MCJ, Verwiel ETP, Heijdra Y, Vulliamy T, Kamping EJ, Hehir-Kwa JY, Bongers EMHF, Pfundt R et al. ( 2012 ) . Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita . Am J Hum Genet vol. 90 , ( 3 ) 426 - 433 .
Vulliamy T, Kaeda J, Foroni L, Bain BJ ( 2012 ) . Chapter 8 Molecular and cytogenetic analysis . Dacie and Lewis Practical Haematology , Elsevier
Lescai F, Bonfiglio S, Bacchelli C, Chanudet E, Waters A, Sisodiya SM, Kasperavičiūtė D, Williams J et al. ( 2012 ) . Characterisation and validation of insertions and deletions in 173 patient exomes . PLoS One vol. 7 , ( 12 )
Vulliamy T, Beswick R, Kirwan MJ, Hossain U, Walne AJ, Dokal I ( 2012 ) . Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2 . Clin Genet vol. 81 , ( 1 ) 76 - 81 .
Dokal I, Vulliamy T, Mason P, Bessler M ( 2011 ) . Clinical utility gene card for: dyskeratosis congenita . Eur J Hum Genet vol. 19 , ( 11 )
Blaydon DC, Biancheri P, Di W-L, Plagnol V, Cabral RM, Brooke MA, van Heel DA, Ruschendorf F et al. ( 2011 ) . Inflammatory skin and bowel disease linked to ADAM17 deletion . N Engl J Med vol. 365 , ( 16 ) 1502 - 1508 .
Kirwan M, Beswick R, Walne AJ, Hossain U, Casimir C, Vulliamy T, Dokal I ( 2011 ) . Dyskeratosis congenita and the DNA damage response . Br J Haematol vol. 153 , ( 5 ) 634 - 643 .
Blaydon DC, Walne AJ, Plagnol V, van Heel DA, Vulliamy T, Kelsell DP ( 2011 ) . Using next-generation sequencing to identify novel disease genes . BRITISH JOURNAL OF DERMATOLOGY . vol. 164 , 930 - 931 .
Vulliamy TJ, Kirwan MJ, Beswick R, Hossain U, Baqai C, Ratcliffe A, Marsh J, Walne A et al. ( 2011 ) . Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations . PLoS One vol. 6 , ( 9 )
Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I ( 2010 ) . Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome . Hum Mol Genet vol. 19 , ( 22 ) 4453 - 4461 .
Jaganathan BG, Tisato V, Vulliamy T, Dokal I, Marsh J, Dazzi F, Bonnet D ( 2010 ) . Effects of MSC co-injection on the reconstitution of aplastic anemia patient following hematopoietic stem cell transplantation . Leukemia vol. 24 , ( 10 ) 1791 - 1795 .
Mortazavi Y, Mirzamohammadi F, Ardestani MT, Mirimoghadam E, Vulliamy TJ ( 2010 ) . Glucos 6-phosphate dehydrogenase deficiency in Tehran, Zanjan and sistan-balouchestan provinces: Prevalence and frequency of Mediterranean variant of G6PD . Iranian Journal of Biotechnology vol. 8 , ( 4 ) 229 - 233 .
Mason PJ, Vulliamy TJ ( 2010 ) . Glucose‐6‐phosphate Dehydrogenase (G6PD) Deficiency: Genetics . Encyclopedia of Life Sciences , Wiley
Mansour S, Connell F, Steward C, Ostergaard P, Brice G, Smithson S, Lunt P, Jeffery S et al. ( 2010 ) . Emberger sndrome - Primary lymphedema with myelodysplasia: Report of seven new cases . American Journal of Medical Genetics, Part A vol. 152 , ( 9 ) 2287 - 2296 .
Mansour S, Connell F, Steward C, Ostergaard P, Brice G, Smithson S, Lunt P, Jeffery S et al. ( 2010 ) . Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases . Am J Med Genet A vol. 152A , ( 9 ) 2287 - 2296 .
Dokal I, Vulliamy T ( 2010 ) . Inherited bone marrow failure syndromes . Haematologica vol. 95 , ( 8 ) 1236 - 1240 .
Valera ET, Brassesco MS, Roxo P, Lourenço CM, Scrideli CA, Ferriani VP, Tone LG, Vulliamy T et al. ( 2010 ) . Genomic instability in Hoyeraal-Hreidarsson syndrome . Pediatr Blood Cancer vol. 54 , ( 5 ) 779 - 780 .
Vuong LG, Hemmati PG, Neuburger S, Terwey TH, Vulliamy T, Dokal I, le Coutre P, Dörken B et al. ( 2010 ) . Reduced-intensity conditioning using fludarabine and antithymocyte globulin alone allows stable engraftment in a patient with dyskeratosis congenita . Acta Haematol vol. 124 , ( 4 ) 200 - 203 .
Ashbridge B, Orte A, Yeoman JA, Kirwan M, Vulliamy T, Dokal I, Klenerman D, Balasubramanian S ( 2009 ) . Single-molecule analysis of the human telomerase RNA.dyskerin interaction and the effect of dyskeratosis congenita mutations . Biochemistry vol. 48 , ( 46 ) 10858 - 10865 .
Kirwan M, Vulliamy T, Marrone A, Walne AJ, Beswick R, Hillmen P, Kelly R, Stewart A et al. ( 2009 ) . Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia . Hum Mutat vol. 30 , ( 11 ) 1567 - 1573 .
Vulliamy TJ ( 2009 ) . Premature aging . Cell Mol Life Sci vol. 66 , ( 18 ) 3091 - 3094 .
Borggraefe I, Koletzko S, Arenz T, Fuehrer M, Hoffmann F, Dokal I, Vulliamy T, Weiler V et al. ( 2009 ) . Severe variant of x-linked dyskeratosis congenita (Hoyeraal-Hreidarsson Syndrome) causes significant enterocolitis in early infancy . J Pediatr Gastroenterol Nutr vol. 49 , ( 3 ) 359 - 363 .
Scott CS, Vulliamy T, Catcevsky D, Matutes E, Norfolk DR ( 2009 ) . DNA Genotypic Conservation During Phenotypic Switch from T-cell Acute Lymphoblastic Leukaemia to Acute Myeloblastic Leukaemia . Leukemia & Lymphoma vol. 1 , ( 1 ) 21 - 28 .
McMullin MF, Chapple M, Vulliamy T, Adams J, Gordon A, Swirsky DM, Barrett AJ, Thorpe PA et al. ( 2009 ) . Systemic Mastocytosis with an Abnormally Expanded T-Cell Clone . Leukemia & Lymphoma vol. 6 , ( 4-5 ) 419 - 422 .
Walne J, Vulliamy T, Beswick R, Kirwan M, Dokal I ( 2009 ) . GENETIC ANALYSIS OF THE SHELTERIN COMPLEX COMPONENTS (POT1 RAP1, TPP1, TRF1 AND TRF2) IN DYSKERATOSIS CONGENITA . HAEMATOLOGICA-THE HEMATOLOGY JOURNAL . vol. 94 , 236 - 236 .
Balci S, Engiz O, Erekul A, Gozdasoglu S, Vulliamy T ( 2009 ) . An atypical form of dyskeratosis congenita with renal agenesis and no mutation in DKC1, TERC and TERT genes . J Eur Acad Dermatol Venereol vol. 23 , ( 5 ) 607 - 608 .
Bashey A, Vulliamy T, Cai BS, Schwarer AP, Goldman JM ( 2009 ) . Non‐lymphoid blast crisis of CML with rearrangement of immunoglobulin and T‐cell receptor delta genes . European Journal Of Haematology vol. 47 , ( 1 ) 36 - 41 .
Kirwan M, Beswick R, Vulliamy T, Nathwani AC, Walne AJ, Casimir C, Dokal I ( 2009 ) . Exogenous TERC alone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients . Br J Haematol vol. 144 , ( 5 ) 771 - 781 .
Kirwan M, Vulliamy T, Walne AJ, Beswick R, Hillmen P, Kelly R, Stewart A, Bowen D et al. ( 2008 ) . Defective Telomerase in Familial Myelodysplasia and Leukemia . BLOOD . vol. 112 , 314 - 314 .
de la Fuente J, O'Boyle F, Killeen N, Tso A, New H, Atra A, Dokal I, Vulliamy T et al. ( 2008 ) . Low Dose Alemtuzumab Achieves Long-Term Engraftment with Low Level Mixed Chimerism in Related Haemopoietic Stem Cell Transplantation for Haemoglobinopathies . Blood vol. 112 , ( 11 )
De La Fuente J, O'Boyle F, Killeen N, Tso A, New H, Atra A, Dokal I, Vulliamy T et al. ( 2008 ) . Low Dose Alemtuzumab Achieves Long-Term Engraftment with Low Level Mixed Chimerism in Related Haemopoietic Stem Cell Transplantation for Haemoglobinopathies . BLOOD . vol. 112 , 1135 - 1135 .
Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I ( 2008 ) . TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes . Blood vol. 112 , ( 9 ) 3594 - 3600 .
Bayoumi RA, Nur-E-Kamal MSA, Tadayyon M, Mohamed KKA, Mahboob BH, Qureshi MM, Lakhani MS, Awaad MO et al. ( 2008 ) . Molecular Characterization of Erythrocyte Glucose-6-Phosphate Dehydrogenase Deficiency in Al-Ain District, United Arab Emirates . Human Heredity vol. 46 , ( 3 ) 136 - 141 .
Daar S, Vulliamy TJ, Kaeda J, Mason PJ, Luzzatto L ( 2008 ) . Molecular Characterization of G6PD Deficiency in Oman . Human Heredity vol. 46 , ( 3 ) 172 - 176 .
Balci S, Engiz O, Erekul A, Gozdasoglu S, Vulliamy T ( 2008 ) . An atypical form of dyskeratosis congenita with renal agenesis and no mutation in DKC1, TERC and TERT genes . J Eur Acad Dermatol Venereol
Vulliamy T, Beswick R, Kirwan M, Marrone A, Digweed M, Walne A, Dokal I ( 2008 ) . Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita . Proc Natl Acad Sci U S A vol. 105 , ( 23 ) 8073 - 8078 .
Walne J, Vulliamy T, Beswick R, Kirwan M, Dokal I ( 2008 ) . CHARACTERISATION OF TINF2 MUTATIONS IN A LARGE COHORT OF PATIENTS WITH DYSKERATOSIS CONGENITA AND RELATED BONE MARROW FAILURE SYNDROMES . HAEMATOLOGICA-THE HEMATOLOGY JOURNAL . vol. 93 , 188 - 188 .
Basel-Vanagaite L, Dokal I, Tamary H, Avigdor A, Garty BZ, Volkov A, Vulliamy T ( 2008 ) . Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations . Haematologica vol. 93 , ( 6 ) 943 - 944 .
Dokal I, Vulliamy T ( 2008 ) . Inherited aplastic anaemias/bone marrow failure syndromes . Blood Rev vol. 22 , ( 3 ) 141 - 153 .
Walne AJ, Marrone A, Beswick R, Kirwan M, Dokal I, Vulliamy T ( 2008 ) . Analysis of the RECQL4 helicase gene in patients with dyskeratosis congenita . BRITISH JOURNAL OF HAEMATOLOGY . vol. 141 , 63 - 63 .
Macdonald D, Jiang YZ, Swirsky D, Vulliamy T, Morilla R, Bungey And J, Barrett AJ ( 2008 ) . Acute myeloid leukaemia relapsing following interleukin‐2 treatment expresses the alpha chain of the interleukin‐2 receptor . British Journal of Haematology vol. 77 , ( 1 ) 43 - 49 .
Kaeda JS, Prasad K, Howard RJ, Mehta A, Vulliamy T, Luzzatto L ( 2008 ) . Management of pregnancy when maternal blood has a very high level of fetal haemoglobin . British Journal of Haematology vol. 88 , ( 2 ) 432 - 434 .
Rovira A, Vulliamy T, Pujades MA, Luzzatto L, Vives JL ( 2008 ) . Molecular genetics of glucose‐6‐phosphate dehydrogenase (G6PD) deficiency in Spain: identification of two new point mutations in the G6PD gene . British Journal of Haematology vol. 91 , ( 1 ) 66 - 71 .
Kirwan M, Vulliamy T, Beswick R, Walne AJ, Casimir C, Dokal I ( 2008 ) . Circulating haematopoietic progenitors are differentially reduced amongst subtypes of dyskeratosis congenita . Br J Haematol vol. 140 , ( 6 ) 719 - 722 .
Vulliamy T, Kaeda J, de CLC, Bain BJ ( 2008 ) . 21 Análisis molecular y citogenético . Dacie y Lewis. Hematología Práctica , Elsevier
Bain BJ, Bates I, Blackmore S, Bradshaw A, Catovsky D, De la Salle B, Dokal I, Hamilton M et al. ( 2008 ) . Autores . Dacie y Lewis. Hematología Práctica , Elsevier
Vulliamy TJ, Dokal I ( 2008 ) . Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex . Biochimie vol. 90 , ( 1 ) 122 - 130 .
Marrone A, Walne A, Tamary H, Masunari Y, Kirwan M, Beswick R, Vulliamy T, Dokal I ( 2007 ) . Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome . Blood vol. 110 , ( 13 ) 4198 - 4205 .
MEHTA AB, VULLIAMY T, GORDON‐SMITH EC, LUZZATTO L ( 2007 ) . A new genetic polymorphism in the 16S ribosomal RNA gene of human motochondrial DNA . Annals of Human Genetics vol. 53 , ( 4 ) 303 - 310 .
Marrone A, Sokhal P, Walne A, Beswick R, Kirwan M, Killick S, Williams M, Marsh J et al. ( 2007 ) . Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations . Haematologica vol. 92 , ( 8 ) 1013 - 1020 .
Walne AJ, Vulliamy T, Marrone A, Beswick R, Kirwan M, Masunari Y, Al-Qurashi F-H, Aljurf M et al. ( 2007 ) . Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10 . Hum Mol Genet vol. 16 , ( 13 ) 1619 - 1629 .
Marrone A, Vulliamy T, Walne A, Dokal I ( 2007 ) . Functional characterisation of mutations in the telomerase complex: no evidence of a dominant negative effect . BRITISH JOURNAL OF HAEMATOLOGY . vol. 137 , 4 - 5 .
Walne AJ, Vulliamy TJ, Marrone A, Beswick R, Kirwan MJ, Masunari Y, Al-Qurashi F, Aljurf M et al. ( 2007 ) . The telomerase-associated protein NOP10 is mutated in autosomal recessive dyskeratosis congenita . BRITISH JOURNAL OF HAEMATOLOGY . vol. 137 , 80 - 80 .
Beutler E, Duparc S, Doumbo O, Ghosh K, De Lacerda MVG, Lapierre D, Looareesuwan S, Premji Z et al. ( 2007 ) . Glucose-6-phosphate dehydrogenase deficiency and antimalarial drug development . American Journal of Tropical Medicine and Hygiene vol. 77 , ( 4 ) 779 - 789 .
Vulliamy T, Kaeda J ( 2006 ) . Molecular and cytogenetic analysis . 555 - 594 .
Halsey C, Ndoni SA, Babaei-Jadidi R, Roper D, Wild BJ, Vulliamy TJ, Thornalley PJ, Layton M ( 2006 ) . A Novel Therapeutic Approach in Triosephosphate Isomerase Deficiency . Blood vol. 108 , ( 11 )
Ndoni SA, Babaei-Jadidi R, Roper D, Wild BJ, Vulliamy TJ, Thornalley PJ, Layton M ( 2006 ) . A novel therapeutic approach in triosephosphate isomerase deficiency . BLOOD . vol. 108 , 7B - 7B .
Vulliamy T, Dokal I ( 2006 ) . Dyskeratosis congenita . Semin Hematol vol. 43 , ( 3 ) 157 - 166 .
Walne A, Vulliamy T, Marrone A, Dokal I ( 2006 ) . Genetic heterogeneity exists in autosomal recessive Dyskeratosis congenita . BRITISH JOURNAL OF HAEMATOLOGY . vol. 133 , 76 - 76 .
Vulliamy TJ ( 2006 ) . Invited lecture: The pathogenesis of dyskeratosis congenita: New insights into the causes of bone marrow failure . Leukemia Research vol. 30 ,
Vulliamy TJ, Marrone A, Knight SW, Walne A, Mason PJ, Dokal I ( 2006 ) . Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation . Blood vol. 107 , ( 7 ) 2680 - 2685 .
Vulliamy TJ, Walne A, Marrone A, Kratz C, Dokal I ( 2006 ) . Mutations in the reverse transcriptase component of telomerase: their impact on telomere length and bone marrow failure . BRITISH JOURNAL OF HAEMATOLOGY . vol. 133 , 32 - 32 .
De Araujo C, Migot-Nabias F, Guitard J, Pelleau S, Vulliamy T, Ducrocq R ( 2006 ) . The role of the G6PD AEth376G/968C allele in glucose-6-phosphate dehydrogenase deficiency in the seerer population of Senegal . Haematologica vol. 91 , ( 2 ) 262 - 263 .
Mason PJ, Vulliamy TJ ( 2006 ) . Glucose‐6‐Phosphate Dehydrogenase (G6PD) Deficiency: Genetics . Encyclopedia of Life Sciences , Wiley
Vulliamy T, Kaeda J, Bain WCFB ( 2006 ) . Chapter 21 Molecular and cytogenetic analysis . Dacie and Lewis Practical Haematology , Elsevier
Percy MJ, Crowley LJ, Roper D, Vulliamy TJ, Layton DM, Barber MJ ( 2006 ) . Identification and characterization of the novel FAD-binding lobe G75S mutation in cytochrome b(5) reductase: an aid to determine recessive congenital methemoglobinemia status in an infant . Blood Cells Mol Dis vol. 36 , ( 1 ) 81 - 90 .
Walne A, Vulliamy T, Marrone A, Dokal I ( 2005 ) . Genome Wide Linkage Analysis Suggests Genetic Heterogeneity in Autosomal Recessive Dyskeratosis Congenita, with One Locus on Chromosome 15 . Blood vol. 106 , ( 11 )
Walne A, Vulliamy T, Marrone A, Dokal I ( 2005 ) . Genome wide linkage analysis suggests genetic heterogeneity in autosomal recessive dyskeratosis congenita, with one locus on chromosome 15 . BLOOD . vol. 106 , 307A - 308A .
Vulliamy T, Beutler E, Luzzatto L ( 2005 ) . Variants of glucose‐6‐phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the gene . Human Mutation vol. 2 , ( 3 ) 159 - 167 .
Brito-Babapulle F, Hassan SH, Higgins C, Mcnally J, Naik R, Vulliamy T ( 2005 ) . Eosinophilic fasciitis: The association with an underlying haematological disorder . BRITISH JOURNAL OF HAEMATOLOGY . vol. 129 , 52 - 52 .
MASON PJ, VULLIAMY TJ, FOULKES NS, Margaret T, HAIDAR B, LUZZATTO L ( 2005 ) . The production of normal and variant human glucose‐6‐phosphate dehydrogenase in cos cells . The FEBS Journal vol. 178 , ( 1 ) 109 - 113 .
Lim F, Vulliamy T, Abdalla SH ( 2005 ) . An Ashkenazi Jewish woman presenting with favism . J Clin Pathol vol. 58 , ( 3 ) 317 - 319 .
Barišić M, Korać J, Pavlinac I, Krželj V, Marušić E, Vulliamy T, Terzić J ( 2005 ) . Characterization of G6PD deficiency in southern Croatia: description of a new variant, G6PD Split . J Hum Genet vol. 50 , ( 11 ) 547 - 549 .
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 Mol Dis vol. 34 , ( 3 ) 257 - 263 .
Repiso A, Corrons JLV, 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 . J Inherit Metab Dis vol. 28 , ( 5 ) 807 - 809 .
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 vol. 104 , ( 13 ) 3936 - 3942 .
Benke S, Houston DS, Dokal I, Vulliamy T ( 2004 ) . A novel hTERC deletion, manifesting with features of dyskeratosis congenita and genetic anticipation . BLOOD . vol. 104 , 126B - 126B .
Vulliamy TJ, Marrone A, Walne A, Stevens D, Mason PJ, Dokal IS ( 2004 ) . The genetic and phenotypic diversity of dyskeratosis congenita . BLOOD . vol. 104 , 52A - 53A .
de la Fuente J, Reiss S, McCloy M, Vulliamy T, Roberts IAG, Rahemtulla A, Dokal I ( 2004 ) . Erratum: Non-TBI stem cell transplantation protocol for Fanconi anaemia using HLA-compatible sibling and unrelated donors (Bone Marrow Transplantation (2003) vol. 32 (653-656) 10.1038/sj.bmt.1704219) . Bone Marrow Transplantation vol. 34 , ( 1 )
de la Fuente J, Reiss S, McCloy M, Vulliamy T, Roberts IAG, Rahemtulla A, Dokal I ( 2004 ) . Non-TBI stem cell transplantation protocol for Fanconi anaemia using HLA-compatible sibling and unrelated donors (vol 32, pg 653, 2003) . BONE MARROW TRANSPL vol. 34 , ( 1 ) 95 - 95 .
Keith WN, Vulliamy T, Zhao J, Ar C, Erzik C, Bilsland A, Ulku B, Marrone A et al. ( 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 Disord vol. 4 , ( 1 )
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 . Nat Genet vol. 36 , ( 5 ) 447 - 449 .
Avery S, Nadal E, Marin D, Olavarria E, Kaeda J, Vulliamy T, Brito Babapulle F, Goldman JM et al. ( 2004 ) . Lymphoid transformation in a CML patient in complete cytogenetic remission following treatment with imatinib . Leuk Res vol. 28 Suppl 1 , S75 - S77 .
Brito-Babapulle F, Vulliamy T, Habboush HW, Higley K, Baxter J, Cross NCP ( 2004 ) . Mechanism of eosinophilia in 26 cases of persistent unexplained eosinophilia. Low incidence of FIP1L1-PDGFRA, TEL-PDGFRB and rare variant BCR ABL . BRITISH JOURNAL OF HAEMATOLOGY . vol. 125 , 18 - 18 .
Tipping AJ, Vulliamy TJ, Morgan NV, Dokal I ( 2004 ) . Molecular diagnosis of Fanconi anemia and dyskeratosis congenita . Methods Mol Med vol. 91 , 3 - 17 .
Dokal I, Vulliamy T ( 2003 ) . Dyskeratosis congenita: its link to telomerase and aplastic anaemia . Blood Rev vol. 17 , ( 4 ) 217 - 225 .
Sznajer Y, Baumann C, David A, Journel H, Lacombe D, Perel Y, Blouin P, Segura J-F et al. ( 2003 ) . Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome) . Eur J Pediatr vol. 162 , ( 12 ) 863 - 867 .
Vulliamy T, Marrone A, Szydlo R, Mason PJ, Dokal I ( 2003 ) . Dyskeratosis congenita: Investigation of the relationship between telomere length and clinical severity and evidence of anticipation associated with progressive telomere shortening . BLOOD . vol. 102 , 158A - 158A .
Marrone A, Vulliamy T, Dokal I, Mason PJ ( 2003 ) . Human telomerase RNA (hTERC) mutations found in dyskeratosis congenita and aplastic anemia affect telomerase activity by different mechanisms . BLOOD . vol. 102 , 158A - 158A .
Scopes DA, Bautista JM, Vulliamy TJ, Mason PJ ( 2003 ) . Plasmodium falciparum glucose‐6‐phosphate dehydrogenase (G6PD) — the N‐terminal portion is homologous to a predicted protein encoded near to G6PD in Haemophilus influenzae . Molecular Microbiology vol. 23 , ( 4 ) 847 - 848 .
de la Fuente J, Reiss S, McCloy M, Vulliamy T, Roberts IAG, Rahemtulla A, Dokal I ( 2003 ) . Non-TBI stem cell transplantation protocol for Fanconi anaemia using HLA-compatible sibling and unrelated donors . Bone Marrow Transplant vol. 32 , ( 7 ) 653 - 656 .
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 . Br J Haematol vol. 122 , ( 4 ) 662 - 668 .
Knoblauch H, Tennstedt C, Brueck W, Hammer H, Vulliamy T, Dokal I, Lehmann R, Hanefeld F et al. ( 2003 ) . Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome) . Am J Med Genet A vol. 120A , ( 2 ) 261 - 265 .
Goldman F, Alsultan A, Thompson A, Vulliamy T, Marrone A, Mason P, Dokal I ( 2003 ) . Humoral immune abnormalities in autosomal dominant Dyskeratosis Congenita . EXPERIMENTAL HEMATOLOGY . vol. 31 , 72 - 72 .
Clarke JL, Vulliamy TJ, Roper D, Mesbah-Namin SA, Wild BJ, Walker JI, Will AM, Bolton-Maggs PH et al. ( 2003 ) . Combined glucose-6-phosphate dehydrogenase and glucosephosphate isomerase deficiency can alter clinical outcome . Blood Cells Mol Dis vol. 30 , ( 3 ) 258 - 263 .
Cossu F, Vulliamy TJ, Marrone A, Badiali M, Cao A, Dokal I ( 2002 ) . A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome . Br J Haematol vol. 119 , ( 3 ) 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 vol. 21 , ( 50 ) 7740 - 7744 .
Sznajer Y, Baumann C, Mechinaud F, David A, Journel H, Genevive D, Raoul M, Dumont M et al. ( 2002 ) . Hoyeraal-Hreidarsson (HH) syndrome in three children . AMERICAN JOURNAL OF HUMAN GENETICS . vol. 71 , 284 - 284 .
Vulliamy T, Marrone A, Dokal I, Mason PJ ( 2002 ) . Association between aplastic anaemia and mutations in telomerase RNA . Lancet vol. 359 , ( 9324 ) 2168 - 2170 .
Mesbah-Namin SA, Sanati MH, Mowjoodi A, Mason PJ, Vulliamy TJ, Noori-Daloii MR ( 2002 ) . Three major glucose-6-phosphate dehydrogenase-deficient polymorphic variants identified in Mazandaran state of Iran . Br J Haematol vol. 117 , ( 3 ) 763 - 764 .
Knight S, Vulliamy T, Copplestone A, Gluckman E, Mason P, Dokal I ( 2002 ) . Dyskeratosis Congenita (DC) Registry: identification of new features of DC . British Journal of Haematology vol. 103 , ( 4 ) 990 - 996 .
Beutler E, Vulliamy TJ ( 2002 ) . Hematologically important mutations: glucose-6-phosphate dehydrogenase . Blood Cells Mol Dis vol. 28 , ( 2 ) 93 - 103 .
Vulliamy TJ, Kaeda JS, Ait‐Chafa D, Mangerini R, Roper D, Barbot J, Mehta AB, Athanassiou‐Metaxa et al. ( 2001 ) . Clinical and haematological consequences of recurrent G6PD mutations and a single new mutation causing chronic nonspherocytic haemolytic anaemia . British Journal of Haematology vol. 101 , ( 4 ) 670 - 675 .
Kotea R, Kaeda JS, Yan SLK, Fa NS, Beesoon S, Jankee S, Ramasawmy R, Vulliamy T et al. ( 2001 ) . Three major G6PD‐deficient polymorphic variants identified among the Mauritian population . British Journal of Haematology vol. 104 , ( 4 ) 849 - 854 .
Knight SW, Heiss NS, Vulliamy TJ, Aalfs CM, McMahon C, Richmond P, Jones A, Hennekam RCM et al. ( 2001 ) . Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal‐Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1 . British Journal of Haematology vol. 107 , ( 2 ) 335 - 339 .
Mason PJ, Vulliamy T, Marrone A, Goldman F, Bessler M, Dokal I ( 2001 ) . Autosomal dominant dyskeratosis congenita due to telomerase RNA defects: A novel mechanism of anticipation? . BLOOD vol. 98 , ( 11 ) 748A - 748A .
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 vol. 413 , ( 6854 ) 432 - 435 .
Amrolia PJ, Vulliamy T, Vassiliou G, Lawson S, Bryon J, Kaeda J, Dokal I, Johnston R et al. ( 2001 ) . Analysis of chimaerism in thalassaemic children undergoing stem cell transplantation . Br J Haematol vol. 114 , ( 1 ) 219 - 225 .
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 . Hum Genet vol. 108 , ( 4 ) 299 - 303 .
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 CELL MOL DIS vol. 27 , ( 2 ) 353 - 357 .
McCloy M, Almeida A, Daly P, Vulliamy T, Roberts IA, Dokal I ( 2001 ) . Fludarabine-based stem cell transplantation protocol for Fanconi's anaemia in myelodysplastic transformation . Br J Haematol vol. 112 , ( 2 ) 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 Mol Dis vol. 27 , ( 2 ) 353 - 357 .
Vulliamy T, Knight S, Mason P, Dokal I ( 2000 ) . Very short telomeres but normal telomerase activity in patients with X-linked and autosomal dyskeratosis congenita . Blood vol. 96 , ( 11 PART I )
Olavarria E, Boecklin E, Rezvani K, Vulliamy T, Zaiac M, Parker S, Chase A, Mulvanny M et al. ( 2000 ) . STI-571 induces mixed chimerism in patients relapsing in blastic transformation after allogeneic stem cell transplantation for chronic myeloid leukemia . BLOOD vol. 96 , ( 11 ) 471A - 471A .
Vulliamy T, Knight S, Mason P, Dokal I ( 2000 ) . The ALA353VAL mutation in dyskerin accounts for similar to 40% of X-linked Dyskeratosis congenita and is associated with highly variable phenotypes . BLOOD vol. 96 , ( 11 ) 527A - 527A .
Vulliamy T, Knight S, Mason P, Dokal I ( 2000 ) . Very short telomeres but normal telomerase activity in patients with X-linked and autosomal dyskeratosis congenita . BLOOD vol. 96 , ( 11 ) 4A - 4A .
Mehta A, Mason PJ, Vulliamy TJ ( 2000 ) . Glucose-6-phosphate dehydrogenase deficiency . Best Practice & Research Clinical Haematology vol. 13 , ( 1 ) 21 - 38 .
Roos D, van Zwieten R, Wijnen JT, Gómez-Gallego F, de Boer M, Stevens D, Pronk-Admiraal CJ, de Rijk T et al. ( 1999 ) . Molecular basis and enzymatic properties of glucose 6-phosphate dehydrogenase volendam, leading to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections . Blood vol. 94 , ( 9 ) 2955 - 2962 .
Vulliamy TJ, Knight SW, Heiss NS, Smith OP, Poustka A, Dokal I, Mason PJ ( 1999 ) . Dyskeratosis congenita caused by a 3' deletion: germline and somatic mosaicism in a female carrier . Blood vol. 94 , ( 4 ) 1254 - 1260 .
Knight SW, Heiss NS, Vulliamy TJ, Greschner S, Stavrides G, Pai GS, Lestringant G, Varma N et al. ( 1999 ) . X-Linked Dyskeratosis Congenita Is Predominantly Caused by Missense Mutations in the DKC1 Gene . American Journal of Human Genetics vol. 65 , ( 1 ) 50 - 58 .
Mason PJ, Stevens D, Diez A, Knight SW, Scopes DA, Vulliamy TJ ( 1999 ) . Human Hexose-6-phosphate Dehydrogenase (Glucose 1-Dehydrogenase) Encoded at 1p36: Coding Sequence and Expression . Blood Cells Molecules and Diseases vol. 25 , ( 1 ) 30 - 37 .
Vulliamy T, Rovira A, Yusoff N, Colomer D, Luzzatto L, Vives‐Corrons J ( 1999 ) . Independent origin of single and double mutations in the human glucose 6‐phosphate dehydrogenase gene . Human Mutation vol. 8 , ( 4 ) 311 - 318 .
Knight SW, Vulliamy TJ, Heiss NS, Matthijs G, Devriendt K, Connor JM, D'Urso M, Poustka A et al. ( 1998 ) . 1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis . Journal of Medical Genetics vol. 35 , ( 12 )
Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason PJ, Poustka A, Dokal I ( 1998 ) . X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions . Nature Genetics vol. 19 , ( 1 ) 32 - 38 .
Mumford AD, Vulliamy T, Lindsay J, Watson A ( 1998 ) . Hereditary hyperferritinemia-cataract syndrome: two novel mutations in the L-ferritin iron-responsive element . Blood vol. 91 , ( 1 ) 367 - 368 .
Vulliamy TJ, Knight SW, Dokal I, Mason PJ ( 1997 ) . Skewed X-inactivation in carriers of X-linked dyskeratosis congenita . Blood vol. 90 , ( 6 ) 2213 - 2216 .
Vulliamy T, Luzzatto L, Hirono A, Beutler E ( 1997 ) . Hematologically Important Mutations: Glucose-6-Phosphate Dehydrogenase . Blood Cells Molecules and Diseases vol. 23 , ( 2 ) 302 - 313 .
Spencer A, Vulliamy T, Kaeda J, Goldman J, Melo J ( 1997 ) . Clonal instability preceding lymphoid blastic transformation of chronic myeloid leukemia . Leukemia vol. 11 , ( 2 ) 195 - 201 .
Baklouti F, Huang S-C, Vulliamy TJ, Delaunay J, Benz EJ ( 1997 ) . Organization of the Human Protein 4.1 Genomic Locus: New Insights into the Tissue-Specific Alternative Splicing of the Pre-mRNA . Genomics vol. 39 , ( 3 ) 289 - 302 .
Knight SW, Vulliamy T, Forni GL, Oscier D, Mason PJ, Dokal I ( 1996 ) . Fine mapping of the dyskeratosis congenita locus in Xq28 . Journal of Medical Genetics vol. 33 , ( 12 )
O'Rourke N, Kelly S, Vulliamy T, Price P ( 1996 ) . Primary Ki-1 lymphoma and the aetiology of B symptoms . European Journal of Cancer vol. 32 , ( 5 ) 902 - 903 .
Konstantopoulos K, Vulliamy T, Swirsky D, Reeves JD, Kaeda J, Luzzatto L ( 1996 ) . DNA haplotypes in Africans and West Indians with sickle cell anaemia or SC disease . Gene Geography vol. 10 , ( 1 ) 19 - 24 .
Naylor C, Rowland P, Basak A, Gover S, Mason P, Bautista J, Vulliamy T, Luzzatto L et al. ( 1996 ) . Glucose 6-phosphate dehydrogenase mutations causing enzyme deficiency in a model of the tertiary structure of the human enzyme . Blood vol. 87 , ( 7 ) 2974 - 2982 .
Beutler E, Vulliamy T, Luzzatto L ( 1996 ) . Hematologically Important Mutations: Glucose-6-phosphate Dehydrogenase . Blood Cells Molecules and Diseases vol. 22 , ( 1 ) 49 - 56 .
Nafa K, Bessler M, Mason P, Vulliamy T, Hillmen P, Castro-Malaspina H, Luzzatto L ( 1996 ) . Factor V Leiden mutation investigated by amplification created restriction enzyme site (ACRES) in PNH patients with and without thrombosis . Haematologica vol. 81 , ( 6 ) 540 - 542 .
Kaeda JS, Chhotray GP, Ranjit MR, Bautista JM, Reddy PH, Stevens D, Naidu JM, Britt RP et al. ( 1995 ) . A new glucose-6-phosphate dehydrogenase variant, G6PD Orissa (44 Ala-->Gly), is the major polymorphic variant in tribal populations in India . American Journal of Human Genetics vol. 57 , ( 6 ) 1335 - 1341 .
Spencer A, Vulliamy T, Chase A, Goldman JM ( 1995 ) . Myeloid to lymphoid clonal succession following autologous transplantation in second chronic phase of chronic myeloid leukaemia . Leukemia vol. 9 , ( 12 ) 2138 - 2139 .
Srivastava P, Kaeda JS, Roper D, Vulliamy TJ, Buckley M, Luzzatto L ( 1995 ) . Severe Hemolytic Anemia Associated With the Homozygous State for an Unstable Hemoglobin Variant (Hb Bushwick) . Blood vol. 86 , ( 5 ) 1977 - 1982 .
Mason PJ, Sonati MF, MacDonald D, Lanza C, Busutil D, Town M, Corcoran C, Kaeda JS et al. ( 1995 ) . New Glucose-6-Phosphate Dehydrogenase Mutations Associated With Chronic Anemia . Blood vol. 85 , ( 5 ) 1377 - 1380 .
Ganczakowski M, Town M, Bowden DK, Vulliamy TJ, Kaneko A, Clegg JB, Weatherall DJ, Luzzatto L ( 1995 ) . Multiple glucose 6-phosphate dehydrogenase-deficient variants correlate with malaria endemicity in the Vanuatu archipelago (southwestern Pacific) . American Journal of Human Genetics vol. 56 , ( 1 ) 294 - 301 .
Nafa K, Reghis A, Osmani N, Baghli L, Aït-Abbes H, Benabadji M, Kaplan J-C, Vulliamy T et al. ( 1994 ) . At least five polymorphic mutants account for the prevalence of glucose-6-phosphate dehydrogenase deficiency in Algeria . Human Genetics vol. 94 , ( 5 ) 513 - 517 .
Rovlra A, Vulliamy TJ, Pujades A, Luzzatto L, Corrons J-LV ( 1994 ) . The glucose-6-phosphate dehydrogenase (G6PD) deficient variant G6PD union (454 Arg→Cys) has a worldwide distribution possibly due to recurrent mutation . Human Molecular Genetics vol. 3 , ( 5 ) 833 - 835 .
O'Brien E, Kurdi-Haidar B, Wanachiwanawin W, Carvajal J-L, Vulliamy TJ, Cappadoro M, Mason PJ, Luzzatto L ( 1994 ) . Cloning of the glucose 6-phosphate dehydrogenase gene from Plasmodium f alciparum . Molecular and Biochemical Parasitology vol. 64 , ( 2 ) 313 - 326 .
Sherratt TG, Vulliamy T, Dubowitz V, Sewry CA, Strong PN ( 1993 ) . Exon skipping and translation in patients with frameshift deletions in the dystrophin gene . American Journal of Human Genetics vol. 53 , ( 5 ) 1007 - 1015 .
Filosa S, Calabrò V, Lania G, Vulliamy TJ, Brancati C, Tagarelli A, Luzzatto L, Martini G ( 1993 ) . G6PD Haplotypes Spanning Xq28 from F8C to Red/Green Color Vision . Genomics vol. 17 , ( 1 ) 6 - 14 .
Oppenheim A, Jury CL, Rund D, Vulliamy TJ, Luzzatto L ( 1993 ) . G6PD Mediterranean accounts for the high prevalence of G6PD deficiency in Kurdish Jews . Human Genetics vol. 91 , ( 3 ) 293 - 294 .
Nafa K, Reghis A, Osmani N, Baghli L, Benabadji M, Kaplan J-C, Vulliamy TJ, Luzzatto L ( 1993 ) . G6PD Aures: a new mutation (48 lle → Thr) causing mild G6PD deficiency is associated with favism . Human Molecular Genetics vol. 2 , ( 1 ) 81 - 82 .
Sherratt TG, Vulliamy T, Strong PN ( 1992 ) . Evolutionary conservation of the dystrophin central rod domain . Biochemical Journal vol. 287 , ( 3 ) 755 - 759 .
Ahluwalia A, Corcoran CM, Vulliamy TJ, Ishwad CS, Naidu JM, Argusti A, Stevens DJ, Mason PJ et al. ( 1992 ) . G6PD Kalyan and G6PD Kerala; two deficient variants in India caused by the same 317 Glu↑Lys mutation . Human Molecular Genetics vol. 1 , ( 3 ) 209 - 210 .
Vulliamy T, Mason P, Luzzatto L ( 1992 ) . The molecular basis of glucose-6-phosphate dehydrogenase deficiency . Trends in Genetics vol. 8 , ( 4 ) 138 - 143 .
Corcoran CM, Calabrò V, Tamagnini G, Town M, Haidar B, Vulliamy TJ, Mason PJ, Luzzatto L ( 1992 ) . Molecular heterogeneity underlying the G6PD Mediterranean phenotype . Human Genetics vol. 88 , ( 6 ) 688 - 690 .
FRANKEL AH, THOMPSON M, VULLIAMY T, WILLIAMS G, THOMAS JA, CRAWFORD DH, REES AJ, LECHLER R ( 1991 ) . A T CELL CLONE IN ASSOCIATION WITH AN EPSTEIN-BARR VIRUS-RELATED B CELL LYMPHOMA . Transplantation vol. 52 , ( 6 )
Vulliamy TJ, Othman A, Town M, Nathwani A, Falusi AG, Mason PJ, Luzzatto L ( 1991 ) . Polymorphic sites in the African population detected by sequence analysis of the glucose-6-phosphate dehydrogenase gene outline the evolution of the variants A and A- . Proceedings of the National Academy of Sciences of the United States of America vol. 88 , ( 19 ) 8568 - 8571 .
Macdonald D, Town M, Mason P, Vulliamy T, Luzzatto L, Goff DK ( 1991 ) . Deficiency in red blood cells . Nature vol. 350 , ( 6314 ) 115 - 115 .
Vulliamy TJ, Othman A, Town M, Nathwani A, Falusi Y, Luzzatto L ( 1991 ) . Linkage disequilibrium of polymorphic sites in the G6PD gene in African populations and the origin of G6PD A- . Gene Geography vol. 5 , ( 1-2 ) 13 - 21 .
Mason PJ, Bautista J, Vulliamy TJ, Turner N, Luzzatto L ( 1990 ) . Human red cell glucose-6-phosphate dehydrogenase is encoded only on the X chromosome . Cell vol. 62 , ( 1 ) 9 - 10 .
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