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Research

Publications: Prof Inderjeet Dokal

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, 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
Batista LFZ, Dokal I, Parker R ( 2022 ) . Telomere biology disorders: time for moving towards the clinic? . Trends in Molecular Medicine
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 .
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 ) 864 - 864 .
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 .
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 )
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 ,
Babushok DV, Hsu AP, Dokal I ( 2020 ) . Chapter 16 Bone marrow failure syndromes . Stiehm's Immune Deficiencies ,
Roberts I, Dokal IS ( 2020 ) . Inherited bone marrow failure syndromes . Oxford Textbook of Medicine ,
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 .
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 . Journal of Allergy and Clinical Immunology: In Practice vol. 7 , ( 6 ) 1763 - 1770 .
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 ) 5241 - 5241 .
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 .
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 .
Killick SB, Bown N, Cavenagh J, Dokal I, Foukaneli T, Hillmen P, Ireland R, Kulasekararaj A et al. ( 2018 ) . 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 × 10<sup>9</sup>/L - RESPONSE to Yan et al . British Journal of Haematology vol. 182 , ( 2 ) 286 - 287 .
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 .
Dokal I ( 2017 ) . New Bone Marrow Failure Genes: DNAJC21 and ERCC6L2 . Blood . vol. 130 ,
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 .
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 , 3916 - 3916 .
( 2016 ) . Corrigendum . Br J Haematol vol. 175 , ( 3 )
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 .
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 .
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 .
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 ,
Killick SB, Bown N, Cavenagh J, Dokal I, Foukaneli T, Hill A, Hillmen P, Ireland R et al. ( 2016 ) . 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: Seventh Edition ,
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 .
Collins J, Dokal I ( 2015 ) . Inherited bone marrow failure syndromes . Hematology (United Kingdom) vol. 20 , ( 7 ) 433 - 434 .
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 ) . Overlap of Syndromes Associated with Myelodysplasia and Leukemia . Blood vol. 124 , ( 21 )
Dokal I ( 2014 ) . Abstract IA19: Dyskeratosis congenita and related syndromes . Conference: Oral Presentationsia19 - ia19 .
Dokal I, Vulliamy T, Mason P, Bessler M ( 2014 ) . Clinical utility gene card for: Dyskeratosis congenita . European Journal of Human Genetics
Dokal I ( 2014 ) . Dyskeratosis Congenita . Stiehm's Immune Deficiencies ,
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 )
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 ( 2013 ) . Dyskeratosis congenita and related syndromes . HUMAN GENE THERAPY . vol. 24 , A19 - A19 .
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 .
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 .
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 .
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-THE HEMATOLOGY JOURNAL vol. 97 , ( 8 ) 1117 - 1117 .
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 .
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 .
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 .
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 .
Dokal IS ( 2010 ) . Inherited Aplastic Anaemia/Bone Marrow Failure Syndromes . Postgraduate Haematology: Sixth Edition ,
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 .
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 .
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 .
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 ) . Chapter 1 Clinical approach . Oxford Handbook of Clinical Haematology ,
Provan D, Singer CRJ, Baglin T, Dokal I ( 2009 ) . Chapter 10 Haemostasis and thrombosis . Oxford Handbook of Clinical Haematology ,
Provan D, Singer CRJ, Baglin T, Dokal I ( 2009 ) . Chapter 11 Immunodeficiency . Oxford Handbook of Clinical Haematology ,
Provan D, Singer CRJ, Baglin T, Dokal I ( 2009 ) . Chapter 12 Paediatric haematology . Oxford Handbook of Clinical Haematology ,
Provan D, Singer CRJ, Baglin T, Dokal I ( 2009 ) . Chapter 13 Haematological emergencies . Oxford Handbook of Clinical Haematology ,
Provan D, Singer CRJ, Baglin T, Dokal I ( 2009 ) . Chapter 14 Supportive care . Oxford Handbook of Clinical Haematology ,
Provan D, Singer CRJ, Baglin T, Dokal I ( 2009 ) . Chapter 16 Haematological investigations . Oxford Handbook of Clinical Haematology ,
Provan D, Singer CRJ, Baglin T, Dokal I ( 2009 ) . Chapter 17 Blood transfusion . Oxford Handbook of Clinical Haematology ,
Provan D, Singer CRJ, Baglin T, Dokal I ( 2009 ) . Chapter 18 Phone numbers and addresses . Oxford Handbook of Clinical Haematology ,
Provan D, Singer CRJ, Baglin T, Dokal I ( 2009 ) . Chapter 19 Haematology online . Oxford Handbook of Clinical Haematology ,
Provan D, Singer CRJ, Baglin T, Dokal I ( 2009 ) . Chapter 2 Red cell disorders . Oxford Handbook of Clinical Haematology ,
Provan D, Singer CRJ, Baglin T, Dokal I ( 2009 ) . Chapter 20 Charts and nomograms . Oxford Handbook of Clinical Haematology ,
Provan D, Singer CRJ, Baglin T, Dokal I ( 2009 ) . Chapter 21 Normal ranges . Oxford Handbook of Clinical Haematology ,
Provan D, Singer CRJ, Baglin T, Dokal I ( 2009 ) . Chapter 3 White blood cell abnormalities . Oxford Handbook of Clinical Haematology ,
Provan D, Singer CRJ, Baglin T, Dokal I ( 2009 ) . Chapter 4 Leukaemia . Oxford Handbook of Clinical Haematology ,
Provan D, Singer CRJ, Baglin T, Dokal I ( 2009 ) . Chapter 5 Lymphoma . Oxford Handbook of Clinical Haematology ,
Provan D, Singer CRJ, Baglin T, Dokal I ( 2009 ) . Chapter 6 Myelodysplasia . Oxford Handbook of Clinical Haematology ,
Provan D, Singer CRJ, Baglin T, Dokal I ( 2009 ) . Chapter 7 Myeloproliferative neoplasms . Oxford Handbook of Clinical Haematology ,
Provan D, Singer CRJ, Baglin T, Dokal I ( 2009 ) . Chapter 8 Paraproteinaemias . Oxford Handbook of Clinical Haematology ,
Provan D, Singer CRJ, Baglin T, Dokal I ( 2009 ) . Chapter 9 Haematopoietic stem cell transplantation (SCT) . Oxford Handbook of Clinical Haematology ,
Provan D, Singer CRJ, Baglin T, Dokal I ( 2009 ) . Coloured Plates . Oxford Handbook of Clinical Haematology ,
Provan D, Singer CRJ, Baglin T, Dokal I ( 2009 ) . Foreword to the first edition . Oxford Handbook of Clinical Haematology ,
Provan D, Singer CRJ, Baglin T, Dokal I ( 2009 ) . Preface to the first edition . Oxford Handbook of Clinical Haematology ,
Provan D, Singer CRJ, Baglin T, Dokal I ( 2009 ) . Preface to the second edition . Oxford Handbook of Clinical Haematology ,
Provan D, Singer CRJ, Baglin T, Dokal I ( 2009 ) . Preface to the third edition . Oxford Handbook of Clinical Haematology ,
Provan D, Singer CRJ, Baglin T, Dokal I ( 2009 ) . Quick Reference Material . Oxford Handbook of Clinical Haematology ,
Provan D, Singer CRJ, Baglin T, Dokal I ( 2009 ) . Symbols and abbreviations . Oxford Handbook of Clinical Haematology ,
Ahmed M, Dokal I ( 2009 ) . Understanding aplastic anaemia/bone-marrow failure syndromes . Paediatrics and Child Health vol. 19 , ( 8 ) 351 - 357 .
Provan D, Singer CRJ, Baglin T, Dokal I ( 2009 ) . chapter 15 Protocols and procedures . Oxford Handbook of Clinical Haematology ,
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 ) 4394 - 4394 .
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 ) 3304 - 3304 .
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 .
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 .
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 ,
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DOKAL I ( 2001 ) . Management of aplastic anaemia . Postgraduate Doctor vol. 24 , 113 - 116 .
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Dokal I ( 1999 ) . Dyskeratosis congenita: Recent advances and future directions . Journal of Pediatric Hematology/Oncology vol. 21 , ( 5 ) 344 - 350 .
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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 .
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Dokal I ( 1999 ) . Dyskeratosis congenita . British journal of haematology vol. 105 Suppl 1 , 11 - 15 .
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Dokal I, Rule S, Chen F, Potter M, Goldman J ( 1997 ) . Adult onset of acute myeloid leukaemia (M6) in patients with Shwachman- Diamond syndrome . British Journal of Haematology vol. 99 , ( 1 ) 171 - 173 .
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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 . British Medical Journal vol. 300 , ( 6734 ) 1263 - 1264 .
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Dokal I, Ganly P, Riebero I, Marsh J, Steed A, Kendra J, Drysdale C, Hows J ( 1989 ) . 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 .
DOKAL I, BRADSHAW A, STONEHAM A, BOWCOCK S, COOMBS R, ROYSTON D, TAYLOR K, HOWS J ( 1989 ) . Major surgery in von Willebrand's disease . Clinical &amp; Laboratory Haematology vol. 11 , ( 3 ) 205 - 211 .
DOKAL IS, DEENMAMODE M, LEWIS SM ( 1989 ) . Radioisotope studies in monitoring of Gaucher's disease and its treatment . Clinical &amp; Laboratory Haematology vol. 11 , ( 2 ) 91 - 96 .
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