Dokal, Inderjeet

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

Heiss, N. S., Knight, S. W., Vulliamy, T. J., Klauck, S. M., Wiemann, S., Mason, P. J., Poustka, A., & Dokal, I. (1998) · Nature Genetics

Blood disorders and treatmentsNuclear Structure and Function

Cited by 976

The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita

Vulliamy, T., Marrone, A., Goldman, F., Dearlove, A., Bessler, M., Mason, P. J., & Dokal, I. (2001) · Nature

Telomeres, Telomerase, and SenescenceBlood disorders and treatments

Cited by 960

Guidelines for the diagnosis and management of adult aplastic anaemia

Killick, S. B., Bown, N., Cavenagh, J., Dokal, I., Foukaneli, T., Hill, A., Hillmen, P., Ireland, R., Kulasekararaj, A., Mufti, G., et al. (2016) · British Journal of Haematology

Hematological disorders and diagnosticsBlood disorders and treatments

Cited by 749

The European society for immunodeficiencies (ESID) registry working definitions for the clinical diagnosis of inborn errors of immunity

Seidel, M. G., Kindle, G., Gathmann, B., Quinti, I., Buckland, M., van Montfrans, J., Scheible, R., Rusch, S., Gasteiger, L. M., Grimbacher, B., et al. (2019) · The Journal of Allergy and Clinical Immunology In Practice

Immunodeficiency and Autoimmune DisordersBlood disorders and treatments

Cited by 647

Dyskeratosis congenita in all its forms

Dokal, I. (2000) · British Journal of Haematology

Blood disorders and treatmentsGenetic and rare skin diseases.

Cited by 575

Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC

Vulliamy, T., Marrone, A., Szydlo, R., Walne, A., Mason, P. J., & Dokal, I. (2004) · Nature Genetics

Telomeres, Telomerase, and SenescenceBlood disorders and treatments

Cited by 461

Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita

Vulliamy, T., Beswick, R., Kirwan, M., Marrone, A., Digweed, M., Walne, A., & Dokal, I. (2008) · Proceedings of the National Academy of Sciences

Telomeres, Telomerase, and SenescenceNuclear Structure and Function

Cited by 334

TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes

Walne, A. J., Vulliamy, T., Beswick, R., Kirwan, M., & Dokal, I. (2008) · Blood

Telomeres, Telomerase, and SenescenceBlood disorders and treatments

Cited by 317

Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10

Walne, A. J., Vulliamy, T., Marrone, A., Beswick, R., Kirwan, M., Masunari, Y., Al-Qurashi, F.-H., Aljurf, M., & Dokal, I. (2007) · Human Molecular Genetics

Telomeres, Telomerase, and SenescenceBlood disorders and treatments

Cited by 316

The loss of telomerase activity in highly differentiated CD8+CD28−CD27− T cells is associated with decreased Akt (Ser473) phosphorylation

Plunkett, F. J., Franzese, O., Finney, H. M., Fletcher, J. M., Belaramani, L. L., Salmon, M., Dokal, I., Webster, D., Lawson, A. D. G., & Akbar, A. N. (2007) · The Journal of Immunology

Telomeres, Telomerase, and SenescenceT-cell and B-cell Immunology

Cited by 222

Dyskeratosis congenita, stem cells and telomeres

Kirwan, M., & Dokal, I. (2009) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Telomeres, Telomerase, and SenescenceBlood disorders and treatments

Cited by 180

Dyskeratosis congenita: Advances in the understanding of the telomerase defect and the role of stem cell transplantation

De La Fuente, J., & Dokal, I. (2007) · Pediatric Transplantation

Telomeres, Telomerase, and SenescenceBlood disorders and treatments

Cited by 119

Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia

Kirwan, M., Vulliamy, T., Marrone, A., Walne, A. J., Beswick, R., Hillmen, P., Kelly, R., Stewart, A., Bowen, D., Schonland, S. O., et al. (2009) · Human Mutation

Telomeres, Telomerase, and SenescenceAcute Myeloid Leukemia Research

Cited by 109

Development of polycythaemia vera in a patient with myelofibrosis

Dokal, I., Pagliuca, A., Deenmamode, M., Mufti, G. J., & Lewis, S. M. (1989) · European Journal of Haematology

Myeloproliferative Neoplasms: Diagnosis and TreatmentHematological disorders and diagnostics

Cited by 6