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Publications:  Prof Thomas Vulliamy

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)
10.1038/s41467-020-14829-5
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
10.1111/bjh.16366
https://qmro.qmul.ac.uk/xmlui/handle/123456789/62798
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.
10.1182/bloodadvances.2019000644
https://qmro.qmul.ac.uk/xmlui/handle/123456789/62699
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.
10.1038/s41588-019-0502-z
https://qmro.qmul.ac.uk/xmlui/handle/123456789/62425
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.
10.1182/blood-2018-03-837799
https://qmro.qmul.ac.uk/xmlui/handle/123456789/42823
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.
10.1073/pnas.1803275115
https://qmro.qmul.ac.uk/xmlui/handle/123456789/43003
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.
10.3324/haematol.2017.183855
https://qmro.qmul.ac.uk/xmlui/handle/123456789/45343
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.
10.1038/s41375-018-0134-9
https://qmro.qmul.ac.uk/xmlui/handle/123456789/38923
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.
10.3324/haematol.2017.167056
https://qmro.qmul.ac.uk/xmlui/handle/123456789/23183
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.
10.1093/bioinformatics/btx147
https://qmro.qmul.ac.uk/xmlui/handle/123456789/62706
Köhler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Aymé S, Baynam G, Bello SM et al.(2017). The human phenotype ontology in 2017. Nucleic Acids Research vol. 45, (D1) D865-D876.
10.1093/nar/gkw1039
https://qmro.qmul.ac.uk/xmlui/handle/123456789/18234
GRIGG JM(2016). Urinary prostanoids in preschool wheeze. European Respiratory Journal
10.1183/13993003.01390-2016
https://qmro.qmul.ac.uk/xmlui/handle/123456789/19760
Al Seraihi A, Rio-Machin A, Tawana K, Boedoer 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,
10.1182/blood.V128.22.3916.3916
https://qmro.qmul.ac.uk/xmlui/handle/123456789/62708
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.
10.1016/j.envint.2016.08.021
https://qmro.qmul.ac.uk/xmlui/handle/123456789/15814
Walne AJ, Collopy L, Cardoso S, Ellison A, Plagnol V, Albayrak C, Albayrak D, Kilic SS et al.(2016). Markedwith dyskeratosisoverlap of congenitafour geneticconfoundssyndromesclinical diagnosis. Haematologica vol. 101, (10) 1180-1189.
10.3324/haematol.2016.147769
https://qmro.qmul.ac.uk/xmlui/handle/123456789/15912
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.
10.1016/j.ajhg.2016.05.002
https://qmro.qmul.ac.uk/xmlui/handle/123456789/15700
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.
10.1038/cddis.2016.148
https://qmro.qmul.ac.uk/xmlui/handle/123456789/12789
DOKAL I(2016). Germline heterozygous DDX41 vriants in a subset of familial myelodysplasia and acute myeloid leukaemia. Leukemia
10.1038/leu.2016.124
https://qmro.qmul.ac.uk/xmlui/handle/123456789/12225
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
10.18632/oncotarget.9015
https://qmro.qmul.ac.uk/xmlui/handle/123456789/12396
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. LANCET. vol. 387, 29-29.
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.
10.1182/blood-2015-03-633388
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)
10.1038/ejhg.2014.170
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.
10.1172/JCI78963
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.
10.1016/S2213-2600(14)70186-9
https://qmro.qmul.ac.uk/xmlui/handle/123456789/7283
Dokal I, Vulliamy T, Mason P, Bessler M(2014). Clinical utility gene card for: Dyskeratosis congenita. European Journal of Human Genetics
10.1038/ejhg.2014.170
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.
10.3324/haematol.2014.105320
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.
10.1016/j.ajhg.2014.01.007
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
10.1111/bjh.12776
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,
10.1182/blood.V122.21.2230.2230
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.
10.1111/bjh.12432
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,
https://qmro.qmul.ac.uk/xmlui/handle/123456789/12433
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.
10.1016/j.ajhg.2013.02.001
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.
10.3324/haematol.2012.071068
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.
10.1007/s10792-012-9611-8
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)
10.1111/bjh.12088
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.
10.1111/j.1365-2141.2012.09136.x
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.
10.1016/j.ajhg.2012.03.020
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.
10.3324/haematol.2011.052787
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.
10.1016/j.ajhg.2012.01.004
Lescai F, Bonfiglio S, Bacchelli C, Chanudet E, Waters A, Sisodiya SM, Kasperavi¿i¿t¿ D, Williams J et al.(2012). Characterisation and validation of insertions and deletions in 173 patient exomes. PLoS One vol. 7, (12)
10.1371/journal.pone.0051292
https://qmro.qmul.ac.uk/xmlui/handle/123456789/5376
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.
10.1111/j.1399-0004.2010.01605.x
https://qmro.qmul.ac.uk/xmlui/handle/123456789/14993
Dokal I, Vulliamy T, Mason P, Bessler M(2011). Clinical utility gene card for: dyskeratosis congenita. Eur J Hum Genet vol. 19, (11)
10.1038/ejhg.2011.90
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.
10.1056/NEJMoa1100721
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.
10.1111/j.1365-2141.2011.08679.x
https://qmro.qmul.ac.uk/xmlui/handle/123456789/14803
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)
10.1371/journal.pone.0024383
https://qmro.qmul.ac.uk/xmlui/handle/123456789/5412
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.
10.1093/hmg/ddq371
https://qmro.qmul.ac.uk/xmlui/handle/123456789/2300
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.
10.1038/leu.2010.164
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.
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.
10.1002/ajmg.a.33445
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.
10.1002/ajmg.a.33445
Dokal I, Vulliamy T(2010). Inherited bone marrow failure syndromes. Haematologica vol. 95, (8) 1236-1240.
10.3324/haematol.2010.025619
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.
10.1002/pbc.22446
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.
10.1159/000318721
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.
10.1021/bi901373e
https://qmro.qmul.ac.uk/xmlui/handle/123456789/14851
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.
10.1002/humu.21115
Vulliamy TJ(2009). Premature aging. Cell Mol Life Sci vol. 66, (18) 3091-3094.
10.1007/s00018-009-0091-6
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.
10.1097/MPG.0b013e3181a15b94
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.
10.1111/j.1468-3083.2008.02985.x
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.
10.1111/j.1365-2141.2008.07516.x
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, 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.
10.1182/blood-2008-05-153445
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
10.1111/j.1468-3083.2008.02985.x
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.
10.1073/pnas.0800042105
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.
10.3324/haematol.12317
Dokal I, Vulliamy T(2008). Inherited aplastic anaemias/bone marrow failure syndromes. Blood Rev vol. 22, (3) 141-153.
10.1016/j.blre.2007.11.003
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.
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.
10.1111/j.1365-2141.2008.06991.x
Vulliamy TJ, Dokal I(2008). Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex. Biochimie vol. 90, (1) 122-130.
10.1016/j.biochi.2007.07.017
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.
10.1182/blood-2006-12-062851
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.
10.4269/ajtmh.2007.77.779
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.
10.3324/haematol.11407
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.
10.1093/hmg/ddm111
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.
Vulliamy T, Kaeda J(2006). Molecular and cytogenetic analysis. 555-594.
10.1016/B0-44-306660-4/50025-8
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.
10.1053/j.seminhematol.2006.04.001
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, 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.
10.1182/blood-2005-07-2622
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.
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.
10.1016/j.bcmd.2005.10.001
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 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.
10.1016/j.bcmd.2004.12.008
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.
Lim F, Vulliamy T, Abdalla SH(2005). An Ashkenazi Jewish woman presenting with favism. J Clin Pathol vol. 58, (3) 317-319.
10.1136/jcp.2004.017426
Bariši¿ M, Kora¿ J, Pavlinac I, Krželj V, Maruši¿ E, Vulliamy T, Terzi¿ J(2005). Characterization of G6PD deficiency in southern Croatia: description of a new variant, G6PD Split. J Hum Genet vol. 50, (11) 547-549.
10.1007/s10038-005-0292-2
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.
10.1007/s10545-005-0098-6
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.
10.1182/blood-2004-05-1829
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.
10.1182/blood.V104.11.169.169
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)
10.1038/sj.bmt.1704590
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.
10.1038/sj.bmt.1704590
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)
10.1186/1471-2326-4-3
https://qmro.qmul.ac.uk/xmlui/handle/123456789/14846
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.
10.1038/ng1346
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.
10.1016/j.leukres.2003.10.019
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.
10.1385/1-59259-433-6:3
Dokal I, Vulliamy T(2003). Dyskeratosis congenita: its link to telomerase and aplastic anaemia. Blood Rev vol. 17, (4) 217-225.
10.1016/s0268-960x(03)00020-1
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.
10.1007/s00431-003-1317-5
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.
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.
10.1038/sj.bmt.1704219
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.
10.1046/j.1365-2141.2003.04397.x
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.
10.1002/ajmg.a.20138
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.
10.1016/s1079-9796(03)00027-5
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.
10.1046/j.1365-2141.2002.03822.x
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.
10.1038/sj.onc.1205969
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.
10.1016/S0140-6736(02)09087-6
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.
10.1046/j.1365-2141.2002.03483.x
Beutler E, Vulliamy TJ(2002). Hematologically important mutations: glucose-6-phosphate dehydrogenase. Blood Cells Mol Dis vol. 28, (2) 93-103.
10.1006/bcmd.2002.0490
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.
10.1038/35096585
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.
10.1046/j.1365-2141.2001.02931.x
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.
10.1007/s004390100494
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.
10.1006/bcmd.2001.0389
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.
10.1006/bcmd.2001.0389
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.
10.1046/j.1365-2141.2001.02585.x
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.
Bayoumi RA, Nur-E-Kamal MSA, Tadayyon M, Mohamed KKA, Mahboob BH, Qureshi MM, Lakhani MS, Awaad MO et al.(1996). Molecular characterization of erythrocyte glucose-6-phosphate dehydrogenase deficiency in al-ain district, united arab emirates. Human Heredity vol. 46, (3) 136-141.
10.1159/000154342
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