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Publications:  Prof Inderjeet Dokal

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
https://qmro.qmul.ac.uk/xmlui/handle/123456789/64355
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,
10.1073/pnas.2002857117
https://qmro.qmul.ac.uk/xmlui/handle/123456789/65771
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
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.
10.1016/j.jaip.2019.02.004
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
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.
10.1111/bjh.14766
https://qmro.qmul.ac.uk/xmlui/handle/123456789/51444
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
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.
10.3324/haematol.2017.167056
https://qmro.qmul.ac.uk/xmlui/handle/123456789/23183
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
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 (vol 172, pg 187, 2016). BRITISH JOURNAL OF HAEMATOLOGY vol. 175, (3) 546-546.
10.1111/bjh.14408
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
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
10.1038/leu.2016.124
https://qmro.qmul.ac.uk/xmlui/handle/123456789/12225
Tummala H, Dokal I(2016). TGF-β Pathway Inhibition Signals New Hope for Fanconi Anemia. Cell Stem Cell vol. 18, (5) 567-568.
10.1016/j.stem.2016.04.008
DOKAL I(2016). TGF-beta Pathway Inhibition Signals New hope for Fanconi Anemia. Cell Stem Cell vol. 18, (May 5)
10.1016/j.stem.2016.03.002
https://qmro.qmul.ac.uk/xmlui/handle/123456789/13962
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.
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.
10.1111/bjh.13853
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.
10.1182/blood-2015-05-647172
Collins J, Dokal I(2015). Inherited bone marrow failure syndromes. Hematology vol. 20, (7) 433-434.
10.1179/1024533215Z.000000000381
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
Dokal I (2014). Abstract IA19: Dyskeratosis congenita and related syndromes. CANCER RESEARCH. vol. 74,
10.1158/1538-7445.CANSUSC14-IA19
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)
10.3324/haematol.2014.105320
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.
10.1111/ced.12272
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
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.
10.1111/bjh.12432
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.
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
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.
10.1182/blood-2012-10-461491
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
Dokal I(2012). Heightened DNA damage response impairs hematopoiesis in Fanconi anemia. HAEMATOLOGICA-THE HEMATOLOGY JOURNAL vol. 97, (8) 1117-1117.
10.3324/haematol.2012.073643
Dokal I(2012). Heightened DNA damage response impairs hematopoiesis in Fanconi anemia. Haematologica vol. 97, (8)
10.3324/haematol.2012.073643
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
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
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
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.
10.1016/j.ejmg.2011.01.001
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
Dokal I(2011). Dyskeratosis congenita. Hematology Am Soc Hematol Educ Program vol. 2011, 480-486.
10.1182/asheducation-2011.1.480
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
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
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
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.
10.1097/MPH.0b013e3181b86ec3
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.
10.1111/j.1365-2141.2009.07842.x
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.
10.1002/pbc.22061
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
Ahmed M, Dokal I(2009). Understanding aplastic anaemia/bone-marrow failure syndromes. Paediatrics and Child Health vol. 19, (8) 351-357.
10.1016/j.paed.2009.04.004
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.
10.1111/j.1365-2141.2009.07598.x
Kirwan M, Dokal I(2009). Dyskeratosis congenita, stem cells and telomeres. Biochim Biophys Acta vol. 1792, (4) 371-379.
10.1016/j.bbadis.2009.01.010
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
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.
10.1007/s00439-008-0576-7
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
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
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.
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.
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.
10.1111/j.1365-2141.2008.06991.x
Dokal I(2008). Dissecting "stress" in Fanconi anemia. BLOOD vol. 111, (4) 1756-1757.
10.1182/blood-2008-01-130328
Kirwan M, Dokal I(2008). Dyskeratosis congenita: a genetic disorder of many faces. Clin Genet vol. 73, (2) 103-112.
10.1111/j.1399-0004.2007.00923.x
Walne AJ, Dokal I(2008). Dyskeratosis Congenita: a historical perspective. Mech Ageing Dev vol. 129, (1-2) 48-59.
10.1016/j.mad.2007.10.006
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
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.
10.1038/sj.bmt.1705839
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.
10.1111/j.1399-3046.2007.00721.x
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
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.
10.4049/jimmunol.178.12.7710
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.
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