Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2 von Vulliamy, T, Beswick, R, Kirwan, MJ, Hossain, U, Walne, AJ, Dokal, I

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Mutations in the telomere capping complex in bone marrow failure and related syndromes von Walne, Amanda J, Bhagat, Tanya, Kirwan, Michael, Gitiaux, Cyril, Desguerre, Isabelle, Leonard, Norma, Nogales, Elena, Vulliamy, Tom, Dokal, Inderjeet S

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Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia von Cardoso, S R, Ryan, G, Walne, A J, 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

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Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis von Walne, Amanda J, Collopy, Laura, Cardoso, Shirleny, Ellison, Alicia, Plagnol, Vincent, Albayrak, Canan, Albayrak, Davut, Kilic, Sara Sebnem, Patıroglu, Turkan, Akar, Haluk, Godfrey, Keith, Carter, Tina, Marafie, Makia, Vora, Ajay, Sundin, Mikael, Vulliamy, Thomas, Tummala, Hemanth, Dokal, Inderjeet

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The Measurement of Pyridinium Crosslinks: A Methodological Overview von James, I T, Walne, A J, Perrett, D

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Exome sequencing identifies MPL as a causative gene in familial aplastic anemia von WALNE, Amanda J, DOKAL, Arran, PLAGNOL, Vincent, BESWICK, Richard, KIRWAN, Michael, DE LA FUENTE, Josu, VULLIAMY, Tom, DOKAL, Inderjeet

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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 von Collopy, Laura C, Walne, Amanda J, Vulliamy, Tom J, Dokal, Inderjeet S

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Pyridinium crosslinks in the monitoring of patients with bone metastases from carcinoma of the breast von Walne, A.J., Jenkins, P.J., James, I.T., Plowman, P.N.

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The stability of pyridinium crosslinks in urine and serum von Walne, Amanda J., T. James, Ian, Perrett, David

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Automated Solid-Phase Extraction with High-Performance Liquid Chromatography Analysis of Pyridinium Crosslinks von James, Ian T., Walne, Amanda J., Perrett, David

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Dyskeratosis congenita : A disorder of defective telomere maintenance? von WALNE, Amanda J, MARRONE, Anna, DOKAL, Inderjeet

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Telomerase dysfunction and dyskeratosis congenita von Walne, Amanda J, Dokal, Inderjeet

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A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure von Tummala, H, Walne, AJ, Bewicke-Copley, F, Ellison, A, Pontikos, N, Bridger, MG, Rio-Machin, A, Sidhu, JK, Wang, J, Hasle, H, Fitzgibbon, J, Vulliamy, T, Dokal, I

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Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita like phenotypes von Tummala, H, Collopy, LC, Walne, AJ, Ellison, A, Cardoso, S, Aksu, T, Yarali, N, Aslan, D, Akata, RF, Teo, J, Songyang, Z, Pontikos, N, Fitzgibbon, J, Tomita, K, Vulliamy, T, Dokal, I

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

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Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis von Walne, AJ, Collopy, L, Cardoso, S, Ellison, A, Plagnol, V, Albayrak, C, Albayrak, D, Kilic, SS, Patiroglu, T, Akar, H, Godfrey, K, Carter, T, Marafie, M, Vora, A, Sundin, M, Vulliamy, T, Tummala, H, Dokal, I

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

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Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita von Walne, Amanda J., Vulliamy, Tom, Kirwan, Michael, Plagnol, Vincent, Dokal, Inderjeet

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The evolving genetic landscape of telomere biology disorder dyskeratosis congenita von Tummala, Hemanth, Walne, Amanda J, Badat, Mohsin, Patel, Manthan, Walne, Abigail M, Alnajar, Jenna, Chow, Chi Ching, Albursan, Ibtehal, Frost, Jennifer M, Ballard, David, Killick, Sally, Szitányi, Peter, Kelly, Anne M, Raghavan, Manoj, Powell, Corrina, Raymakers, Reinier, Todd, Tony, Mantadakis, Elpis, Polychronopoulou, Sophia, Pontikos, Nikolas, Liao, Tianyi, Madapura, Pradeep, Hossain, Upal, Vulliamy, Tom, Dokal, Inderjeet

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Mismatch between marine plankton range movements and the velocity of climate change von Chivers, William J., Walne, Anthony W., Hays, Graeme C.

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