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Research

Publications: Dr Amanda Walne

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 .
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 .
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 ,
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 .
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 .
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 .
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
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 AJ ( 2015 ) . Long tails, short telomeres: Dyskeratosis congenita . Oncotarget vol. 6 , ( 16 ) 13856 - 13857 .
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 .
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 - e111 .
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 .
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 .
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 .
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 .
Blaydon DC, Biancheri P, Di W-L, Plagnol V, Cabral RM, Brooke MA, van Heel DA, Ruschendorf F et al. ( 2011 ) . Inflammatory skin and bowel disease linked to ADAM17 deletion . N Engl J Med vol. 365 , ( 16 ) 1502 - 1508 .
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 .
Blaydon DC, Walne AJ, Plagnol V, van Heel DA, Vulliamy T, Kelsell DP ( 2011 ) . Using next-generation sequencing to identify novel disease genes . BRITISH JOURNAL OF DERMATOLOGY . vol. 164 , 930 - 931 .
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 )
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 .
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 .
Walne AJ, Dokal I ( 2009 ) . Advances in the understanding of dyskeratosis congenita . Br J Haematol vol. 145 , ( 2 ) 164 - 172 .
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 .
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 .
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 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 .
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 .
Walne AJ, Dokal I ( 2008 ) . Dyskeratosis Congenita: a historical perspective . Mech Ageing Dev vol. 129 , ( 1-2 ) 48 - 59 .
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 .
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 .
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 .
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 .
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 ) 1054 - 1054 .
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 .
Walne AJ, Marrone A, Dokal I ( 2005 ) . Dyskeratosis congenita: a disorder of defective telomere maintenance? . Int J Hematol vol. 82 , ( 3 ) 184 - 189 .
Marrone A, Walne A, Dokal I ( 2005 ) . Dyskeratosis congenita: telomerase, telomeres and anticipation . Curr Opin Genet Dev vol. 15 , ( 3 ) 249 - 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 .
Vulliamy TJ, Marrone A, Walne A, Stevens D, Mason PJ, Dokal IS ( 2004 ) . The genetic and phenotypic diversity of dyskeratosis congenita . BLOOD . vol. 104 , 52A - 53A .
Walne AJ, Dokal I ( 2004 ) . Telomerase dysfunction and dyskeratosis congenita . Cytotechnology vol. 45 , ( 1-2 ) 13 - 22 .
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 .
Walne A, Lympany P, Welsh K, du Bois R ( 2002 ) . Collagenase 1 (matrix metalloproteinase 1, MMP1) is involved in the development of Cryptogenic Fibrosing Alveolitis . THORAX . vol. 57 ,
Meeks M, Walne A, Spiden S, Simpson H, MussaffiGeorgy H, Hamam HD, Fehaid E, Cheehab M et al. ( 2001 ) . A locus for primary ciliary dyskinesia maps to chromosome 19q (vol 37, pg 241, 2000) . J MED GENET vol. 38 , ( 12 ) 894 - 894 .
Walne A, Lympany P, Pantelidis P, Welsh K, Du Bois R ( 2001 ) . Analysis of the involvement of polymorphisms in collagenase I (or MMP1) in patients with cryptogenic fibrosing alveolitis (CFA) . THORAX vol. 56 , 51 - 51 .
Walne A, Lympany P, Pantelidis P, Welsh K, Du Bois RM ( 2001 ) . Polymorphisms in the primary intracellular antioxidant defence mechanism in cryptogenic fibrosing alveolitis (CFA) . THORAX vol. 56 , 51 - 51 .
Jeganathan D, Meeks M, Gehrig C, Walne AJ, Dunn MG, Bisgaard H, Blouin JL, Gardiner RM et al. ( 2001 ) . A genome wide scan reveals a putative novel locus for primary ciliary dyskinesia (PCD) in the Faeroe Island population . AM J HUM GENET vol. 69 , ( 4 ) 525 - 525 .