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Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes.

Tummala H, Collopy LC, Walne AJ, Ellison A, Cardoso S, Aksu T, Yarali N, Aslan D, Fikret Akata R, Teo J, Songyang Z, Pontikos N, Fitzgibbon J, Tomita K, Vulliamy T, Dokal I.

Blood. 2018 Sep 20;132(12):1349-1353. doi: 10.1182/blood-2018-03-837799. Epub 2018 Jul 31. No abstract available.


Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants.

Tummala H, Dokal AD, Walne A, Ellison A, Cardoso S, Amirthasigamanipillai S, Kirwan M, Browne I, Sidhu JK, Rajeeve V, Rio-Machin A, Seraihi AA, Duncombe AS, Jenner M, Smith OP, Enright H, Norton A, Aksu T, Özbek NY, Pontikos N, Cutillas P, Dokal I, Vulliamy T.

Proc Natl Acad Sci U S A. 2018 Jul 24;115(30):7777-7782. doi: 10.1073/pnas.1803275115. Epub 2018 Jul 9.


Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease.

Walne A, Tummala H, Ellison A, Cardoso S, Sidhu J, Sciuccati G, Vulliamy T, Dokal I.

Haematologica. 2018 Jul;103(7):e284-e287. doi: 10.3324/haematol.2017.183855. Epub 2018 Mar 8. No abstract available.


Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies.

Cardoso SR, Ellison ACM, Walne AJ, Cassiman D, Raghavan M, Kishore B, Ancliff P, Rodríguez-Vigil C, Dobbels B, Rio-Machin A, Al Seraihi AFH, Pontikos N, Tummala H, Vulliamy T, Dokal I.

Haematologica. 2017 Aug;102(8):e293-e296. doi: 10.3324/haematol.2017.167056. Epub 2017 May 11. No abstract available.


Mismatch between marine plankton range movements and the velocity of climate change.

Chivers WJ, Walne AW, Hays GC.

Nat Commun. 2017 Feb 10;8:14434. doi: 10.1038/ncomms14434.


Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.

Walne AJ, Collopy L, Cardoso S, Ellison A, Plagnol V, Albayrak C, Albayrak D, Kilic SS, Patıroglu T, Akar H, Godfrey K, Carter T, Marafie M, Vora A, Sundin M, Vulliamy T, Tummala H, Dokal I.

Haematologica. 2016 Oct;101(10):1180-1189. Epub 2016 Sep 9.


DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.

Tummala H, Walne AJ, Williams M, Bockett N, Collopy L, Cardoso S, Ellison A, Wynn R, Leblanc T, Fitzgibbon J, Kelsell DP, van Heel DA, Payne E, Plagnol V, Dokal I, Vulliamy T.

Am J Hum Genet. 2016 Jul 7;99(1):115-24. doi: 10.1016/j.ajhg.2016.05.002. Epub 2016 Jun 23.


Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia.

Cardoso SR, Ryan G, Walne AJ, Ellison A, Lowe R, Tummala H, Rio-Machin A, Collopy L, Al Seraihi A, Wallis Y, Page P, Akiki S, Fitzgibbon J, Vulliamy T, Dokal I.

Leukemia. 2016 Oct;30(10):2083-2086. doi: 10.1038/leu.2016.124. Epub 2016 Jun 2. No abstract available.


Long tails, short telomeres: Dyskeratosis congenita.

Tummala H, Walne AJ.

Oncotarget. 2015 Jun 10;6(16):13856-7. No abstract available.


Triallelic and epigenetic-like inheritance in human disorders of telomerase.

Collopy LC, Walne AJ, Cardoso S, de la Fuente J, Mohamed M, Toriello H, Tamary H, Ling AJ, Lloyd T, Kassam R, Tummala H, Vulliamy TJ, Dokal I.

Blood. 2015 Jul 9;126(2):176-84. doi: 10.1182/blood-2015-03-633388. Epub 2015 May 29.


Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita.

Tummala H, Walne A, Collopy L, Cardoso S, de la Fuente J, Lawson S, Powell J, Cooper N, Foster A, Mohammed S, Plagnol V, Vulliamy T, Dokal I.

J Clin Invest. 2015 May;125(5):2151-60. doi: 10.1172/JCI78963. Epub 2015 Apr 20.


How many Coccolithovirus genotypes does it take to terminate an Emiliania huxleyi bloom?

Highfield A, Evans C, Walne A, Miller PI, Schroeder DC.

Virology. 2014 Oct;466-467:138-45. doi: 10.1016/j.virol.2014.07.017. Epub 2014 Jul 30.


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.

Collopy LC, Walne AJ, Vulliamy TJ, Dokal IS.

Haematologica. 2014 Jul;99(7):e109-11. doi: 10.3324/haematol.2014.105320. Epub 2014 Apr 24. No abstract available.


ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.

Tummala H, Kirwan M, Walne AJ, Hossain U, Jackson N, Pondarre C, Plagnol V, Vulliamy T, Dokal I.

Am J Hum Genet. 2014 Feb 6;94(2):246-56. doi: 10.1016/j.ajhg.2014.01.007.


Multi-decadal range changes vs. thermal adaptation for north east Atlantic oceanic copepods in the face of climate change.

Hinder SL, Gravenor MB, Edwards M, Ostle C, Bodger OG, Lee PL, Walne AW, Hays GC.

Glob Chang Biol. 2014 Jan;20(1):140-6. doi: 10.1111/gcb.12387. Epub 2013 Oct 18.


Haematological recovery in dyskeratosis congenita patients treated with danazol.

Islam A, Rafiq S, Kirwan M, Walne A, Cavenagh J, Vulliamy T, Dokal I.

Br J Haematol. 2013 Sep;162(6):854-6. doi: 10.1111/bjh.12432. Epub 2013 Jun 19. No abstract available.


Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.

Walne AJ, Vulliamy T, Kirwan M, Plagnol V, Dokal I.

Am J Hum Genet. 2013 Mar 7;92(3):448-53. doi: 10.1016/j.ajhg.2013.02.001. Epub 2013 Feb 28.


Mutations in the telomere capping complex in bone marrow failure and related syndromes.

Walne AJ, Bhagat T, Kirwan M, Gitiaux C, Desguerre I, Leonard N, Nogales E, Vulliamy T, Dokal IS.

Haematologica. 2013 Mar;98(3):334-8. doi: 10.3324/haematol.2012.071068. Epub 2012 Aug 16.


Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia.

Kirwan M, Walne AJ, Plagnol V, Velangi M, Ho A, Hossain U, Vulliamy T, Dokal I.

Am J Hum Genet. 2012 May 4;90(5):888-92. doi: 10.1016/j.ajhg.2012.03.020. Epub 2012 Apr 26.


Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia.

Holme H, Hossain U, Kirwan M, Walne A, Vulliamy T, Dokal I.

Br J Haematol. 2012 Jul;158(2):242-248. doi: 10.1111/j.1365-2141.2012.09136.x. Epub 2012 Apr 26.


Exome sequencing identifies MPL as a causative gene in familial aplastic anemia.

Walne AJ, Dokal A, Plagnol V, Beswick R, Kirwan M, de la Fuente J, Vulliamy T, Dokal I.

Haematologica. 2012 Apr;97(4):524-8. doi: 10.3324/haematol.2011.052787. Epub 2011 Dec 16.


Inflammatory skin and bowel disease linked to ADAM17 deletion.

Blaydon DC, Biancheri P, Di WL, Plagnol V, Cabral RM, Brooke MA, van Heel DA, Ruschendorf F, Toynbee M, Walne A, O'Toole EA, Martin JE, Lindley K, Vulliamy T, Abrams DJ, MacDonald TT, Harper JI, Kelsell DP.

N Engl J Med. 2011 Oct 20;365(16):1502-8. doi: 10.1056/NEJMoa1100721.


Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations.

Vulliamy TJ, Kirwan MJ, Beswick R, Hossain U, Baqai C, Ratcliffe A, Marsh J, Walne A, Dokal I.

PLoS One. 2011;6(9):e24383. doi: 10.1371/journal.pone.0024383. Epub 2011 Sep 13.


Toxic marine microalgae and shellfish poisoning in the British isles: history, review of epidemiology, and future implications.

Hinder SL, Hays GC, Brooks CJ, Davies AP, Edwards M, Walne AW, Gravenor MB.

Environ Health. 2011 Jun 6;10:54. doi: 10.1186/1476-069X-10-54. Review.


Dyskeratosis congenita and the DNA damage response.

Kirwan M, Beswick R, Walne AJ, Hossain U, Casimir C, Vulliamy T, Dokal I.

Br J Haematol. 2011 Jun;153(5):634-43. doi: 10.1111/j.1365-2141.2011.08679.x. Epub 2011 Apr 8.


Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2.

Vulliamy T, Beswick R, Kirwan MJ, Hossain U, Walne AJ, Dokal I.

Clin Genet. 2012 Jan;81(1):76-81. doi: 10.1111/j.1399-0004.2010.01605.x. Epub 2011 Jan 4.


Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome.

Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I.

Hum Mol Genet. 2010 Nov 15;19(22):4453-61. doi: 10.1093/hmg/ddq371. Epub 2010 Sep 3.


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

Kirwan M, Vulliamy T, Marrone A, Walne AJ, Beswick R, Hillmen P, Kelly R, Stewart A, Bowen D, Schonland SO, Whittle AM, McVerry A, Gilleece M, Dokal I.

Hum Mutat. 2009 Nov;30(11):1567-73. doi: 10.1002/humu.21115.


Advances in the understanding of dyskeratosis congenita.

Walne AJ, Dokal I.

Br J Haematol. 2009 Apr;145(2):164-72. doi: 10.1111/j.1365-2141.2009.07598.x. Epub 2009 Feb 4. Review.


Exogenous TERC alone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients.

Kirwan M, Beswick R, Vulliamy T, Nathwani AC, Walne AJ, Casimir C, Dokal I.

Br J Haematol. 2009 Mar;144(5):771-81. doi: 10.1111/j.1365-2141.2008.07516.x. Epub 2008 Nov 20.


Telomerase dysfunction and dyskeratosis congenita.

Walne AJ, Dokal I.

Cytotechnology. 2004 Jun;45(1-2):13-22. doi: 10.1007/s10616-004-5121-5.


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

Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I.

Blood. 2008 Nov 1;112(9):3594-600. doi: 10.1182/blood-2008-05-153445. Epub 2008 Jul 30.


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.

Proc Natl Acad Sci U S A. 2008 Jun 10;105(23):8073-8. doi: 10.1073/pnas.0800042105. Epub 2008 Jun 3.


Development and validation of a molecular technique for the analysis of archived formalin-preserved phytoplankton samples permits retrospective assessment of Emiliania huxleyi communities.

Ripley SJ, Baker AC, Miller PI, Walne AW, Schroeder DC.

J Microbiol Methods. 2008 May;73(2):118-24. doi: 10.1016/j.mimet.2008.02.001. Epub 2008 Feb 15.


Circulating haematopoietic progenitors are differentially reduced amongst subtypes of dyskeratosis congenita.

Kirwan M, Vulliamy T, Beswick R, Walne AJ, Casimir C, Dokal I.

Br J Haematol. 2008 Mar;140(6):719-22. doi: 10.1111/j.1365-2141.2008.06991.x. No abstract available.


Dyskeratosis Congenita: a historical perspective.

Walne AJ, Dokal I.

Mech Ageing Dev. 2008 Jan-Feb;129(1-2):48-59. Epub 2007 Oct 30.


Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.

Marrone A, Walne A, Tamary H, Masunari Y, Kirwan M, Beswick R, Vulliamy T, Dokal I.

Blood. 2007 Dec 15;110(13):4198-205. Epub 2007 Sep 4.


Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations.

Marrone A, Sokhal P, Walne A, Beswick R, Kirwan M, Killick S, Williams M, Marsh J, Vulliamy T, Dokal I.

Haematologica. 2007 Aug;92(8):1013-20. Epub 2007 Jul 20.


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

Walne AJ, Vulliamy T, Marrone A, Beswick R, Kirwan M, Masunari Y, Al-Qurashi FH, Aljurf M, Dokal I.

Hum Mol Genet. 2007 Jul 1;16(13):1619-29. Epub 2007 May 16.


Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation.

Vulliamy TJ, Marrone A, Knight SW, Walne A, Mason PJ, Dokal I.

Blood. 2006 Apr 1;107(7):2680-5. Epub 2005 Dec 6.


Dyskeratosis congenita: a disorder of defective telomere maintenance?

Walne AJ, Marrone A, Dokal I.

Int J Hematol. 2005 Oct;82(3):184-9. Review.


Dyskeratosis congenita: telomerase, telomeres and anticipation.

Marrone A, Walne A, Dokal I.

Curr Opin Genet Dev. 2005 Jun;15(3):249-57. Review.


Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.

Vulliamy TJ, Walne A, Baskaradas A, Mason PJ, Marrone A, Dokal I.

Blood Cells Mol Dis. 2005 May-Jun;34(3):257-63.


Long-term oceanographic and ecological research in the Western English Channel.

Southward AJ, Langmead O, Hardman-Mountford NJ, Aiken J, Boalch GT, Dando PR, Genner MJ, Joint I, Kendall MA, Halliday NC, Harris RP, Leaper R, Mieszkowska N, Pingree RD, Richardson AJ, Sims DW, Smith T, Walne AW, Hawkins SJ.

Adv Mar Biol. 2005;47:1-105. Review.


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 PJ, Dokal I.

Nat Genet. 2004 May;36(5):447-9. Epub 2004 Apr 18.


Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity.

Blouin JL, Meeks M, Radhakrishna U, Sainsbury A, Gehring C, Saïl GD, Bartoloni L, Dombi V, O'Rawe A, Walne A, Chung E, Afzelius BA, Armengot M, Jorissen M, Schidlow DV, van Maldergem L, Walt H, Gardiner RM, Probst D, Guerne PA, Delozier-Blanchet CD, Antonarakis SE.

Eur J Hum Genet. 2000 Feb;8(2):109-18.


A locus for primary ciliary dyskinesia maps to chromosome 19q.

Meeks M, Walne A, Spiden S, Simpson H, Mussaffi-Georgy H, Hamam HD, Fehaid EL, Cheehab M, Al-Dabbagh M, Polak-Charcon S, Blau H, O'Rawe A, Mitchison HM, Gardiner RM, Chung E.

J Med Genet. 2000 Apr;37(4):241-4.


Pyridinium crosslinks in the monitoring of patients with bone metastases from carcinoma of the breast.

Walne AJ, Jenkins PJ, James IT, Plowman PN.

Clin Oncol (R Coll Radiol). 1997;9(1):30-4.


The measurement of pyridinium crosslinks: a methodological overview.

James IT, Walne AJ, Perrett D.

Ann Clin Biochem. 1996 Sep;33 ( Pt 5):397-420. Review. No abstract available.


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