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Publications: Prof Inderjeet Dokal

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Kulasekararaj A, Cavenagh J, Dokal I, Foukaneli T, Gandhi S, Garg M, Griffin M, Hillmen P et al. ( 2024 ) . Guidelines for the diagnosis and management of adult aplastic anaemia: A British Society for Haematology Guideline . British Journal of Haematology
Sande CM, Chen S, Mitchell DV, Lin P, Deolikar RJ, Freeman C, Zhou M, Kumar S et al. ( 2023 ) . DNA Damage Response Constrains Cell Growth and Drives Clonal Hematopoiesis in Telomere Biology Disorders . Blood vol. 142 , ( Supplement 1 )
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 .
James EN, Sagi-Kiss V, Bennett M, Mycielska ME, Karen-Ng LP, Roberts T, Matta S, Dokal I et al. ( 2023 ) . Dyskeratosis Congenita Links Telomere Attrition to Age-Related Systemic Energetics . The Journals of Gerontology Series A vol. 78 , ( 5 ) 780 - 789 .
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 .
Batista LFZ, Dokal I, Parker R ( 2022 ) . Telomere biology disorders: time for moving towards the clinic? . Trends in Molecular Medicine vol. 28 , ( 10 ) 882 - 891 .
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, Dokal I ( 2022 ) . The biology and management of dyskeratosis congenita and related disorders of telomeres . Expert Review of Hematology vol. 15 , ( 8 ) 685 - 696 .
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 )
Babushok DV, Hsu AP, Dokal I ( 2020 ) . Chapter 16 Bone marrow failure syndromes . Stiehm's Immune Deficiencies , Elsevier
Roberts I, Dokal IS ( 2020 ) . Inherited bone marrow failure syndromes . Oxford Textbook of Medicine , Oxford University Press (OUP)
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 )
Lo Ten Foe JR, Kwee ML, Rooimans MA, Oostra AB, Veerman AJ, van Weel M, Pauli RM, Shahidi NT et al. ( 2019 ) . Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance . European Journal of Human Genetics vol. 5 , ( 3 ) 137 - 148 .
Seidel MG, Kindle G, Gathmann B, Quinti I, Buckland M, van Montfrans J, Scheible R, Rusch S et al. ( 2019 ) . The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity . The Journal of Allergy and Clinical Immunology In Practice vol. 7 , ( 6 ) 1763 - 1770 .
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 )
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 .
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 .
Dokal I ( 2017 ) . New Bone Marrow Failure Genes: DNAJC21 and ERCC6L2 . Blood . vol. 130 , sci - 22 .
Killick SB, Bown N, Cavenagh J, Dokal I, Foukaneli T, Hillmen P, Ireland R, Kulasekararaj A et al. ( 2017 ) . British Committee for Standards in Haematology guidelines for aplastic anemia: Single centre retrospective review finds no compelling evidence for the recommended higher platelet count threshold of 20 × 109/L ‐ RESPONSE to Yan et al . British Journal of Haematology vol. 182 , ( 2 ) 286 - 287 .
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 .
Seraihi AA, 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 ,
( 2016 ) . Corrigendum . British Journal of Haematology vol. 175 , ( 3 ) 546 - 546 .
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 .
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
Tummala H, Dokal I ( 2016 ) . TGF-β Pathway Inhibition Signals New Hope for Fanconi Anemia . Cell Stem Cell vol. 18 , ( 5 ) 567 - 568 .
DOKAL I ( 2016 ) . TGF-beta Pathway Inhibition Signals New hope for Fanconi Anemia . Cell Stem Cell vol. 18 , ( May 5 )
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 ,
Rio-Machin A, Cardoso S, Tawana K, Wang J, Chelala C, Plagnol V, Wallis Y, Ryan G et al. ( 2016 ) . WHOLE EXOME SEQUENCING REVEALS NOVEL CANDIDATE GENES IN FAMILIAL MDS/AML . HAEMATOLOGICA . vol. 101 , 205 - 206 .
Killick SB, Bown N, Cavenagh J, Dokal I, Foukaneli T, Hill A, Hillmen P, Ireland R et al. ( 2015 ) . Guidelines for the diagnosis and management of adult aplastic anaemia . British Journal of Haematology vol. 172 , ( 2 ) 187 - 207 .
Dokal IS ( 2015 ) . Inherited Aplastic Anaemia/Bone Marrow Failure Syndromes . Postgraduate Haematology , Wiley
Collins J, Dokal I ( 2015 ) . Inherited bone marrow failure syndromes . Hematology vol. 20 , ( 7 ) 433 - 434 .
Tawana K, Wang J, Renneville A, Bödör C, Hills R, Loveday C, Savic A, Van Delft FW et al. ( 2015 ) . Disease evolution and outcomes in familial AML with germline CEBPA mutations . Blood vol. 126 , ( 10 ) 1214 - 1223 .
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 .
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 )
Dokal I ( 2014 ) . Abstract IA19: Dyskeratosis congenita and related syndromes . Conference: Oral Presentationsia19 - ia19 .
Dokal I ( 2014 ) . Overlap of Syndromes Associated with Myelodysplasia and Leukemia . Blood vol. 124 , ( 21 ) sci - 32 .
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 - e109 .
Powell JB, Dokal I, Carr R, Taibjee S, Cave B, Moss C ( 2014 ) . X-linked dyskeratosis congenita presenting in adulthood with photodamaged skin and epiphora . Clin Exp Dermatol vol. 39 , ( 3 ) 310 - 314 .
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 .
Dokal I ( 2014 ) . Chapter 11 Dyskeratosis Congenita . Stiehm's Immune Deficiencies , Elsevier
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 .
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 .
Hilcenko C, Simpson PJ, Finch AJ, Bowler FR, Churcher MJ, Jin L, Packman LC, Shlien A et al. ( 2013 ) . Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia . Blood vol. 121 , ( 6 ) 1028 - 1038 .
Dokal I ( 2013 ) . Dyskeratosis congenita and related syndromes . HUMAN GENE THERAPY . vol. 24 , A19 - A19 .
Powell J, Moss C, Dokal I, Carr R, Taibjee S, Cave B ( 2013 ) . X-linked recessive dyskeratosis congenita: an important dermatological diagnosis . BRITISH JOURNAL OF DERMATOLOGY . vol. 169 , 33 - 33 .
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 .
Dokal I ( 2012 ) . Heightened DNA damage response impairs hematopoiesis in Fanconi anemia . Haematologica vol. 97 , ( 8 )
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 .
Dokal I ( 2012 ) . Heightened DNA damage response impairs hematopoiesis in Fanconi anemia . HAEMATOLOGICA-THE HEMATOLOGY JOURNAL vol. 97 , ( 8 ) 1117 - 1117 .
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 )
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 .
Dokal I ( 2011 ) . Inherited bone marrow failure syndromes . Journal of Hematopathology vol. 4 , ( 2 ) 53 - 60 .
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 )
Dokal I ( 2011 ) . Dyskeratosis congenita . Hematology Am Soc Hematol Educ Program vol. 2011 , 480 - 486 .
Belligni EF, Dokal I, Hennekam RCM ( 2011 ) . Prenatal and postnatal growth retardation, microcephaly, developmental delay, and pigmentation abnormalities: Naegeli syndrome, dyskeratosis congenita, poikiloderma Clericuzio type, or separate entity? . Eur J Med Genet vol. 54 , ( 3 ) 231 - 235 .
Dokal IS ( 2010 ) . Inherited Aplastic Anaemia/Bone Marrow Failure Syndromes . Postgraduate Haematology , Wiley
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 .
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 .
Provan D, Singer CRJ, Baglin T, Dokal I ( 2010 ) . Chapter 1 Clinical approach . Oxford Handbook of Clinical Haematology , Oxford University Press (OUP)
Provan D, Singer CRJ, Baglin T, Dokal I ( 2010 ) . Chapter 10 Haemostasis and thrombosis . Oxford Handbook of Clinical Haematology , Oxford University Press (OUP)
Provan D, Singer CRJ, Baglin T, Dokal I ( 2010 ) . Chapter 11 Immunodeficiency . Oxford Handbook of Clinical Haematology , Oxford University Press (OUP)
Provan D, Singer CRJ, Baglin T, Dokal I ( 2010 ) . Chapter 12 Paediatric haematology . Oxford Handbook of Clinical Haematology , Oxford University Press (OUP)
Provan D, Singer CRJ, Baglin T, Dokal I ( 2010 ) . Chapter 13 Haematological emergencies . Oxford Handbook of Clinical Haematology , Oxford University Press (OUP)
Provan D, Singer CRJ, Baglin T, Dokal I ( 2010 ) . Chapter 14 Supportive care . Oxford Handbook of Clinical Haematology , Oxford University Press (OUP)
Provan D, Singer CRJ, Baglin T, Dokal I ( 2010 ) . Chapter 16 Haematological investigations . Oxford Handbook of Clinical Haematology , Oxford University Press (OUP)
Provan D, Singer CRJ, Baglin T, Dokal I ( 2010 ) . Chapter 17 Blood transfusion . Oxford Handbook of Clinical Haematology , Oxford University Press (OUP)
Provan D, Singer CRJ, Baglin T, Dokal I ( 2010 ) . Chapter 18 Phone numbers and addresses . Oxford Handbook of Clinical Haematology , Oxford University Press (OUP)
Provan D, Singer CRJ, Baglin T, Dokal I ( 2010 ) . Chapter 19 Haematology online . Oxford Handbook of Clinical Haematology , Oxford University Press (OUP)
Provan D, Singer CRJ, Baglin T, Dokal I ( 2010 ) . Chapter 2 Red cell disorders . Oxford Handbook of Clinical Haematology , Oxford University Press (OUP)
Provan D, Singer CRJ, Baglin T, Dokal I ( 2010 ) . Chapter 20 Charts and nomograms . Oxford Handbook of Clinical Haematology , Oxford University Press (OUP)
Provan D, Singer CRJ, Baglin T, Dokal I ( 2010 ) . Chapter 21 Normal ranges . Oxford Handbook of Clinical Haematology , Oxford University Press (OUP)
Provan D, Singer CRJ, Baglin T, Dokal I ( 2010 ) . Chapter 3 White blood cell abnormalities . Oxford Handbook of Clinical Haematology , Oxford University Press (OUP)
Provan D, Singer CRJ, Baglin T, Dokal I ( 2010 ) . Chapter 4 Leukaemia . Oxford Handbook of Clinical Haematology , Oxford University Press (OUP)
Provan D, Singer CRJ, Baglin T, Dokal I ( 2010 ) . Chapter 5 Lymphoma . Oxford Handbook of Clinical Haematology , Oxford University Press (OUP)
Provan D, Singer CRJ, Baglin T, Dokal I ( 2010 ) . Chapter 6 Myelodysplasia . Oxford Handbook of Clinical Haematology , Oxford University Press (OUP)
Provan D, Singer CRJ, Baglin T, Dokal I ( 2010 ) . Chapter 7 Myeloproliferative neoplasms . Oxford Handbook of Clinical Haematology , Oxford University Press (OUP)
Provan D, Singer CRJ, Baglin T, Dokal I ( 2010 ) . Chapter 8 Paraproteinaemias . Oxford Handbook of Clinical Haematology , Oxford University Press (OUP)
Provan D, Singer CRJ, Baglin T, Dokal I ( 2010 ) . Chapter 9 Haematopoietic stem cell transplantation (SCT) . Oxford Handbook of Clinical Haematology , Oxford University Press (OUP)
Provan D, Singer CRJ, Baglin T, Dokal I ( 2010 ) . Foreword to the first edition . Oxford Handbook of Clinical Haematology , Oxford University Press (OUP)
Provan D, Singer CRJ, Baglin T, Dokal I ( 2010 ) . Preface to the first edition . Oxford Handbook of Clinical Haematology , Oxford University Press (OUP)
Provan D, Singer CRJ, Baglin T, Dokal I ( 2010 ) . Preface to the second edition . Oxford Handbook of Clinical Haematology , Oxford University Press (OUP)
Provan D, Singer CRJ, Baglin T, Dokal I ( 2010 ) . Preface to the third edition . Oxford Handbook of Clinical Haematology , Oxford University Press (OUP)
Provan D, Singer CRJ, Baglin T, Dokal I ( 2010 ) . Symbols and abbreviations . Oxford Handbook of Clinical Haematology , Oxford University Press (OUP)
Provan D, Singer CRJ, Baglin T, Dokal I ( 2010 ) . chapter 15 Protocols and procedures . Oxford Handbook of Clinical Haematology , Oxford University Press (OUP)
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 .
Breakey VR, Meyn S, Ng V, Allen C, Dokal I, Lansdorp PM, Abla O, Dror Y ( 2009 ) . Hepatitis-associated aplastic anemia presenting as a familial bone marrow failure syndrome . J Pediatr Hematol Oncol vol. 31 , ( 11 ) 884 - 887 .
Marsh JCW, Ball SE, Cavenagh J, Darbyshire P, Dokal I, Gordon-Smith EC, Keidan J, Laurie A et al. ( 2009 ) . Guidelines for the diagnosis and management of aplastic anaemia . Br J Haematol vol. 147 , ( 1 ) 43 - 70 .
Savage SA, Dokal I, Armanios M, Aubert G, Cowen EW, Domingo DL, Giri N, Greene MH et al. ( 2009 ) . Dyskeratosis congenita: the first NIH clinical research workshop . Pediatr Blood Cancer vol. 53 , ( 3 ) 520 - 523 .
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 .
Ahmed M, Dokal I ( 2009 ) . Understanding aplastic anaemia/bone-marrow failure syndromes . Paediatrics and Child Health vol. 19 , ( 8 ) 351 - 357 .
Dokal I, Luzzatto L ( 2009 ) . Dyskeratosis Congenita Is a Chromosomal Instability Disorder . Leukemia & Lymphoma vol. 15 , ( 1-2 ) 1 - 7 .
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 .
Dufour C, Maher J, Murray N, Manning M, Dokal I, Luzzatto L, Roberts IAG ( 2009 ) . An unusual case of familial aplastic anaemia: in vitro and in vivo evidence for a multipotent progenitor responsive to G–CSF . European Journal Of Haematology vol. 60 , ( 3 ) 209 - 212 .
Dokal I, Pagliuca A, Deenmamode M, Mufti GJ, Lewis SM ( 2009 ) . Development of polycythaemia vera in a patient with myelofibrosis . European Journal Of Haematology vol. 42 , ( 1 ) 96 - 98 .
Walne AJ, Dokal I ( 2009 ) . Advances in the understanding of dyskeratosis congenita . Br J Haematol vol. 145 , ( 2 ) 164 - 172 .
Kirwan M, Dokal I ( 2009 ) . Dyskeratosis congenita, stem cells and telomeres . Biochim Biophys Acta vol. 1792 , ( 4 ) 371 - 379 .
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 .
Singer CRJ, Baglin T, Dokal I ( 2009 ) . Oxford Handbook of Clinical Haematology . Oxford University Press
Provan D, Singer CRJ, Baglin T, Dokal I ( 2009 ) . Coloured Plates . Oxford Handbook of Clinical Haematology , Oxford University Press (OUP)
Provan D, Singer CRJ, Baglin T, Dokal I ( 2009 ) . Quick Reference Material . Oxford Handbook of Clinical Haematology , Oxford University Press (OUP)
Tsangaris E, Adams S-L, Yoon G, Chitayat D, Lansdorp P, Dokal I, Dror Y ( 2008 ) . Ataxia and pancytopenia caused by a mutation in TINF2 . Hum Genet vol. 124 , ( 5 ) 507 - 513 .
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 .
Alamelu J, O'Boyle F, Killeen N, New H, Atra A, Dokal I, Davis J, Foroni L et al. ( 2008 ) . Full Donor Engraftment without Chronic GvHD Following HLA-Matched Sibling Donor Haemopoietic Stem Cell Transplantation for Diamond Blackfan Anaemia . 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 , ( 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 .
Coulthard S, Chase A, Pickard J, Goldman J, Dokal I ( 2008 ) . Chromosomal breakage analysis in dyskeratosis congenita peripheral blood lymphocytes . British Journal of Haematology vol. 102 , ( 5 ) 1162 - 1164 .
DOKAL I, BRADSHAW A, STONEHAM A, BOWCOCK S, COOMBS R, ROYSTON D, TAYLOR K, HOWS J ( 2008 ) . Major surgery in von Willebrand's disease . International Journal of Laboratory Hematology vol. 11 , ( 3 ) 205 - 211 .
DOKAL IS, DEENMAMODE M, LEWIS SM ( 2008 ) . Radioisotope studies in monitoring of Gaucher's disease and its treatment . International Journal of Laboratory Hematology vol. 11 , ( 2 ) 91 - 96 .
DOKAL IS, DEENMAMODE M, LEWIS SM ( 2008 ) . Detection and functional assessment of accessory splenic tissue (splenunculi) with radiolabelled heat damaged autologous erythrocytes . International Journal of Laboratory Hematology vol. 12 , ( 4 ) 387 - 393 .
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 .
Vulliamy J, Beswick R, Kirwan M, Marrone A, Digweed M, Walne A, Dokal I ( 2008 ) . BIALLELIC MUTATIONS IN THE TELOMERASE COMPONENT NHP2 CAUSE THE PREMATURE AGEING SYNDROME DYSKERATOSIS CONGEINTA . HAEMATOLOGICA-THE HEMATOLOGY JOURNAL . vol. 93 , 192 - 192 .
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 .
Dokal I ( 2008 ) . Fanconi anemia is a highly penetrant cancer susceptibility syndrome . HAEMATOL-HEMATOL J vol. 93 , ( 4 ) 486 - 489 .
Dokal I ( 2008 ) . Fanconi anemia is a highly penetrant cancer susceptibility syndrome . Haematologica vol. 93 , ( 4 ) 486 - 488 .
Dokal I, Jones L, Deenmamode M, Lewis SM, Goldman JM ( 2008 ) . ALLOGENEIC BONE MARROW TRANSPLANTATION FOR PRIMARY MYELOFIBROSIS . British Journal of Haematology vol. 71 , ( 1 ) 158 - 160 .
Dokal I, Ganly P, Riebero I, Marsh J, Steed A, Kendra J, Drysdale C, Hows J ( 2008 ) . Late onset bone marrow failure associated with proximal fusion of radius and ulna: a new syndrome . British Journal of Haematology vol. 71 , ( 2 ) 277 - 280 .
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 .
Dokal I ( 2008 ) . Dissecting "stress" in Fanconi anemia . BLOOD vol. 111 , ( 4 ) 1756 - 1757 .
Kirwan M, Dokal I ( 2008 ) . Dyskeratosis congenita: a genetic disorder of many faces . Clin Genet vol. 73 , ( 2 ) 103 - 112 .
Dokal I, Lewis SM ( 2008 ) . 15 Radioisótopos en el diagnóstico hematológico . 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
Walne AJ, Dokal I ( 2008 ) . Dyskeratosis Congenita: a historical perspective . Mech Ageing Dev vol. 129 , ( 1-2 ) 48 - 59 .
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 .
Amarasinghe K, Dalley C, Dokal I, Laurie A, Gupta V, Marsh J ( 2007 ) . Late death after unrelated-BMT for dyskeratosis congenita following conditioning with alemtuzumab, fludarabine and melphalan . Bone Marrow Transplant vol. 40 , ( 9 ) 913 - 914 .
Dokal IS ( 2007 ) . Inherited Aplastic Anaemia/Bone Marrow Failure Syndromes . Postgraduate Haematology , Wiley
Roberts IAG, Dokal IS ( 2007 ) . Chronic Myeloid Leukemia . Pediatric Hematology , Wiley
Dokal I ( 2007 ) . Dyskeratosis congenita . EXPERIMENTAL HEMATOLOGY . vol. 35 , 10 - 10 .
de la Fuente J, Dokal I ( 2007 ) . Dyskeratosis congenita: advances in the understanding of the telomerase defect and the role of stem cell transplantation . Pediatr Transplant vol. 11 , ( 6 ) 584 - 594 .
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 .
Plunkett FJ, Franzese O, Finney HM, Fletcher JM, Belaramani LL, Salmon M, Dokal I, Webster D et al. ( 2007 ) . The loss of telomerase activity in highly differentiated CD8+CD28-CD27- T cells is associated with decreased Akt (Ser473) phosphorylation . J Immunol vol. 178 , ( 12 ) 7710 - 7719 .
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 .
Ramasamy K, Lim ZY, Savvas M, Salisbury JR, Dokal I, Mufti GJ, Pagliuca A ( 2006 ) . Disseminated herpes virus (HSV-2) infection with rhabdomyolysis and hemophagocytic lymphohistiocytosis in a patient with bone marrow failure syndrome . Ann Hematol vol. 85 , ( 9 ) 629 - 630 .
Vulliamy T, Dokal I ( 2006 ) . Dyskeratosis congenita . Semin Hematol vol. 43 , ( 3 ) 157 - 166 .
DOKAL I, MARRONE A ( 2006 ) . Dyskeratosis congenita: a disorder of telomerase deficiency and its relationship to other diseases . Expert Review of Dermatology vol. 1 , ( 3 ) 463 - 479 .
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 .
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 .
Dokal I, Lewis SM ( 2006 ) . Chapter 15 Diagnostic radioisotopes in haematology . Dacie and Lewis Practical Haematology , Elsevier
Dokal I ( 2006 ) . Fanconi's anaemia and related bone marrow failure syndromes . Br Med Bull vol. 77-78 , 37 - 53 .
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 .
DOKAL I, MARRONE A, WALNE A ( 2005 ) . Dyskeratosis congenita: a disorder of defective telomere maintenance? . International Journal of Hematology vol. 82 , 184 - 9 .
Walne AJ, Marrone A, Dokal I ( 2005 ) . Dyskeratosis congenita: a disorder of defective telomere maintenance? . Int J Hematol vol. 82 , ( 3 ) 184 - 189 .
Ip P, Knight R, Dokal I, Manzur AY, Muntoni F ( 2005 ) . Peripheral neuropathy: a novel finding in dyskeratosis congenital . NEUROMUSCULAR DISORDERS . vol. 15 , 684 - 685 .
Meetei AR, Medhurst AL, Ling C, Xue Y, Singh TR, Bier P, Steltenpool J, Stone S et al. ( 2005 ) . A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M . Nat Genet vol. 37 , ( 9 ) 958 - 963 .
Marrone A, Walne A, Dokal I ( 2005 ) . Dyskeratosis congenita: telomerase, telomeres and anticipation . Curr Opin Genet Dev vol. 15 , ( 3 ) 249 - 257 .
Pancham S, Hemmaway C, New H, Albert E, Dokal I, Roberts IAG, McCloy M ( 2005 ) . Caspofungin for invasive fungal infections: combination treatment with liposomal amphotericin B in children undergoing hemopoietic stem cell transplantation . Pediatr Transplant vol. 9 , ( 2 ) 254 - 257 .
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 .
Ip P, Knight R, Dokal I, Manzur AY, Muntoni F ( 2005 ) . Peripheral neuropathy--a novel finding in dyskeratosis congenita . Eur J Paediatr Neurol vol. 9 , ( 2 ) 85 - 89 .
Marrone A, Dokal I ( 2004 ) . Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer . Expert Rev Mol Med vol. 6 , ( 26 ) 1 - 23 .
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 , ( 11 )
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 ,
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 )
Tischkowitz M, Dokal I ( 2004 ) . Fanconi anaemia and leukaemia - clinical and molecular aspects . Br J Haematol vol. 126 , ( 2 ) 176 - 191 .
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 )
Walne AJ, Dokal I ( 2004 ) . Telomerase dysfunction and dyskeratosis congenita . Cytotechnology vol. 45 , ( 1-2 ) 13 - 22 .
de Grey ADNJ, Campbell FC, Dokal I, Fairbairn LJ, Graham GJ, Jahoda CAB, Porterg ACG ( 2004 ) . Total deletion of in vivo telomere elongation capacity: an ambitious but possibly ultimate cure for all age-related human cancers . Ann N Y Acad Sci vol. 1019 , 147 - 170 .
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 .
Tipping AJ, Vulliamy TJ, Morgan NV, Dokal I ( 2004 ) . Molecular Diagnosis of Fanconi Anemia and Dyskeratosis Congenita . Pediatric Hematology , vol. 91 , Springer Nature
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 .
Dokal I, Rule S, Chen F, Potter M, Goldman J ( 2003 ) . Adult onset of acute myeloid leukaemia (M6) in patients with Shwachman‐Diamond syndrome . British Journal of Haematology vol. 99 , ( 1 ) 171 - 173 .
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 .
Goldman FD, Bessler M, Dokal I, Knudson MJ, Kulkarni S ( 2003 ) . Immune abnormalities in autosomal dominant dyskeratosis congenita: The effect of telomere length on lymphocyte cell cycle and apoptosis . BLOOD . vol. 102 , 530A - 530A .
Dokal I ( 2003 ) . Dyskeratosis congenita: an inherited bone marrow failure syndrome . British Journal of Haematology vol. 92 , ( 4 ) 775 - 779 .
O'Donnell J, Roberts I, De La Fuente J, Daly P, New H, Dokal I ( 2003 ) . Successful second bone marrow transplant for Fanconi's anaemia following escalation of conditioning . British Journal of Haematology vol. 98 , ( 3 ) 772 - 774 .
DOKAL I, CHASE A, MORGAN NV, COULTHARD S, HALL G, MATHEW CG, ROBERTS I ( 2003 ) . Positive diepoxybutane test in only one of two brothers found to be compound heterozygotes for Fanconi's anaemia complementation group C mutations . British Journal of Haematology vol. 93 , ( 4 ) 813 - 816 .
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 .
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 .
Lawson SE, Roberts IAG, Amrolia P, Dokal I, Szydlo R, Darbyshire PJ ( 2003 ) . Bone marrow transplantation for beta-thalassaemia major: the UK experience in two paediatric centres . Br J Haematol vol. 120 , ( 2 ) 289 - 295 .
Dokal I ( 2003 ) . Inherited aplastic anaemia . Hematol J vol. 4 , ( 1 ) 3 - 9 .
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 .
de la Fuente J, Deenamode M, Dokal I ( 2002 ) . Detection of implanted splenic tissue using 99m-Technetium-labelled heat-damaged autologous red cells . Br J Haematol vol. 118 , ( 1 )
Vulliamy T, Marrone A, Dokal I, Mason PJ ( 2002 ) . Association between aplastic anaemia and mutations in telomerase RNA . Lancet vol. 359 , ( 9324 ) 2168 - 2170 .
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 .
VULLIAMY TJ, DOKAL I, CAO A, BADIALI M, COSSU F ( 2002 ) . Association between aplastic anaemia and mutations in telomerase RNA . Lancet vol. 119 , 765 - 768 .
DOKAL I ( 2002 ) . Inherited bone marrow failure . The Hematology Journal vol. 3:S2 , 141 - 147 .
Marley, Lewis, Davidson, Roberts, Dokal, Goldman, Gordon ( 2001 ) . Evidence for a continuous decline in haemopoietic cell function from birth: application to evaluating bone marrow failure in children . British Journal of Haematology vol. 106 , ( 1 ) 162 - 166 .
Dokal I ( 2001 ) . The Inherited Bone Marrow Failure Syndromes: Fanconi Anemia, Dyskeratosis Congenita and Diamond‐Blackfan Anemia . Reviews in Clinical and Experimental Hematology vol. 4 , ( 3 ) 183 - 215 .
Dokal I ( 2001 ) . Dyskeratosis congenita in all its forms . British Journal of Haematology vol. 110 , ( 4 ) 768 - 779 .
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 .
Dokal I ( 2001 ) . A disease of premature ageing . LANCETS27 - S27 .
Dokal I ( 2001 ) . Dyskeratosis congenita. A disease of premature ageing . Lancet vol. 358 Suppl ,
Bonfim CMS, Dokal I, de Medeiros CR, Zanis-Neto J, Bitencourt MA, Moreira VA, Silva LCL, Pasquini R ( 2001 ) . Allogeneic bone marrow transplantation (Allo-BMT) for patients (pts) with Dyskeratosis Congenita (DC) . BLOOD vol. 98 , ( 11 ) 411A - 411A .
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 .
DOKAL I ( 2001 ) . Management of aplastic anaemia . Postgraduate Doctor vol. 24 , 113 - 116 .
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 .
Faivre L, Guardiola P, Lewis C, Dokal I, Ebell W, Zatterale A, Altay C, Poole J et al. ( 2000 ) . Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group . Blood vol. 96 , ( 13 ) 4064 - 4070 .
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 )
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 .
Dokal I ( 2000 ) . The genetics of Fanconi's anaemia . Best Practice & Research Clinical Haematology vol. 13 , ( 3 ) 407 - 425 .
Guardiola P, Pasquini R, Dokal I, Ortega JJ, van Weel-Sipman M, Marsh JC, Ball SE, Locatelli F et al. ( 2000 ) . Outcome of 69 allogeneic stem cell transplantations for Fanconi anemia using HLA-matched unrelated donors: a study on behalf of the European Group for Blood and Marrow Transplantation . Blood vol. 95 , ( 2 ) 422 - 429 .
Liu JM, Kim S, Read EJ, Futaki M, Dokal I, Carter CS, Leitman SF, Pensiero M et al. ( 1999 ) . Engraftment of Hematopoietic Progenitor Cells Transduced with the Fanconi Anemia Group C Gene (FANCC) . Human Gene Therapy vol. 10 , ( 14 ) 2337 - 2346 .
Dokal I ( 1999 ) . Guest Commentaries . Journal of Pediatric Hematology/Oncology vol. 21 , ( 5 ) 344 - 349 .
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 .
Dokal I ( 1999 ) . Dyskeratosis congenita . British Journal of Haematology vol. 105 Suppl 1 , 11 - 15 .
Wijker M, Morgan N, Herterich S, van Berkel C, Tipping A, Gross H, Gille J, Pals G et al. ( 1999 ) . Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene . European Journal of Human Genetics vol. 7 , ( 1 ) 52 - 59 .
Gibson RA, Morgan NV, Goldstein LH, Pearson IC, Kesterton IP, Foot NJ, Jansen S, Havenga C et al. ( 1999 ) . Novel mutations and polymorphisms in the Fanconi anemia group C gene . Human Mutation vol. 8 , ( 2 ) 140 - 148 .
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 )
Gluckman E, Rocha V, Chastang C ( 1998 ) . European results of unrelated cord blood transplants. Eurocord group . Bone Marrow Transplantation . vol. 21 Suppl 3 , s87 - s91 .
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 .
Guardiola P, Socié G, Pasquini R, Dokal I, Ortega JJ, van Weel-Sipman M, Marsh J, Locatelli F et al. ( 1998 ) . Allogeneic stem cell transplantation for Fanconi Anaemia. Severe Aplastic Anaemia Working Party of the EBMT and EUFAR. European Group for Blood and Marrow Transplantation . Bone Marrow Transplantation . vol. 21 Suppl 2 , s24 - s27 .
O’Donnell J, Goldman J, Wagner K, Ehinger G, Martin N, Leahy M, Kariuki N, Dokal I et al. ( 1998 ) . Donor-derived Plasmodium vivax infection following volunteer unrelated bone marrow transplantation . Bone Marrow Transplantation vol. 21 , ( 3 ) 313 - 314 .
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 .
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 )
Dokal IS, Roberts IA ( 1996 ) . Bone marrow transplantation for Fanconi's anaemia: conditioning with reduced doses of cyclophosphamide without radiation . British Journal of Haematology vol. 94 , ( 2 )
Dokal I ( 1996 ) . Severe aplastic anemia including Fanconi's anemia and dyskeratosis congenita . Current Opinion in Hematology vol. 3 , ( 6 ) 453 - 460 .
Arngrimsson R, Dokal I, Luzzatto L, Connor JM ( 1993 ) . Dyskeratosis congenita: three additional families show linkage to a locus in Xq28 . Journal of Medical Genetics vol. 30 , ( 7 )
Dokal I, Bungey J, Williamson P, Oscier D, Hows J, Luzzatto L ( 1992 ) . Dyskeratosis Congenita Fibroblasts Are Abnormal and Have Unbalanced Chromosomal Rearrangements . Blood vol. 80 , ( 12 ) 3090 - 3096 .
Dokal I, Lord D, Rhodes D, Bydder G, Cox T ( 1991 ) . Detection of hereditary haemochromatosis in an HLA-identical pedigree showing discordance between HLA class I genes and the disease locus . Human Genetics vol. 88 , ( 2 ) 209 - 214 .
Dokal IS, Cox TM, Galton DA ( 1990 ) . Vitamin B-12 and folate deficiency presenting as leukaemia . The BMJ vol. 300 , ( 6734 )
Dokal IS ( 1990 ) . Erratum: Vitamin B-12 and folate deficiency presenting as leukaemia (British Medical Journal, 12 May, 1990, p. 1263) . British Medical Journal vol. 300 , ( 6736 )
Dokal IS, Cox TM, Galton DAG ( 1990 ) . Vitamin B-12 and folate deficiency presenting as leukaemia (I: Reply) . British Medical Journal vol. 301 , ( 6742 )
Dokal IS, Amos A, Bashey A, Goldman JM ( 1988 ) . Recurrent bone marrow necrosis and extramedullary myeloid deposits in Philadelphia negative chronic myeloid leukaemia . Haematologica vol. 73 , ( 6 ) 513 - 515 .
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