Publications:  Dr Amanda Walne

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, 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.