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

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Advances in the understanding of dyskeratosis congenita von Walne, Amanda J., Dokal, Inderjeet

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DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation von Tummala, Hemanth, Walne, Amanda J., Williams, Mike, Bockett, Nicholas, Collopy, Laura, Cardoso, Shirleny, Ellison, Alicia, Wynn, Rob, Leblanc, Thierry, Fitzgibbon, Jude, Kelsell, David P., van Heel, David A., Payne, Elspeth, Plagnol, Vincent, Dokal, Inderjeet, Vulliamy, Tom

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ERCC6L2 Mutations Link a Distinct Bone-Marrow-Failure Syndrome to DNA Repair and Mitochondrial Function von Tummala, Hemanth, Kirwan, Michael, Walne, Amanda J., Hossain, Upal, Jackson, Nicholas, Pondarre, Corinne, Plagnol, Vincent, Vulliamy, Tom, Dokal, Inderjeet

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Exome Sequencing Identifies Autosomal-Dominant SRP72 Mutations Associated with Familial Aplasia and Myelodysplasia von Kirwan, Michael, Walne, Amanda J., Plagnol, Vincent, Velangi, Mark, Ho, Aloysius, Hossain, Upal, Vulliamy, Tom, Dokal, Inderjeet

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High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders von Norris, Kevin, Walne, Amanda J., Ponsford, Mark J., Cleal, Kez, Grimstead, Julia W., Ellison, Alicia, Alnajar, Jenna, Dokal, Inderjeet, Vulliamy, Tom, Baird, Duncan M.

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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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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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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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Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia von Kirwan, Michael, Vulliamy, Tom, Marrone, Anna, Walne, Amanda J, Beswick, Richard, Hillmen, Peter, Kelly, Richard, Stewart, Andrew, Bowen, David, Schonland, Stefan O, Whittle, Annika Maria, McVerry, Anthony, Gilleece, Maria, Dokal, Inderjeet

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Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies von Cardoso, Shirleny R, Ellison, Alicia C M, Walne, Amanda J, Cassiman, David, Raghavan, Manoj, Kishore, Bhuvan, Ancliff, Philip, Rodríguez-Vigil, Carmen, Dobbels, Bieke, Rio-Machin, Ana, Al Seraihi, Ahad F H, Pontikos, Nikolas, Tummala, Hemanth, Vulliamy, Tom, Dokal, Inderjeet

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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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TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes von Walne, Amanda J., Vulliamy, Tom, Beswick, Richard, Kirwan, Michael, 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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Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome von Walne, Amanda J., Vulliamy, Tom, Beswick, Richard, Kirwan, Michael, Dokal, Inderjeet

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Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10 von Walne, Amanda J., Vulliamy, Tom, Marrone, Anna, Beswick, Richard, Kirwan, Michael, Masunari, Yuka, Al-Qurashi, Fat-hia, Aljurf, Mahmoud, 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, Hemanth, Walne, Amanda J., Bewicke-Copley, Findlay, Ellison, Alicia, Pontikos, Nikolas, Bridger, Maria G., Rio-Machin, Ana, Sidhu, Jasmin K., Wang, Jun, Hasle, Henrik, Fitzgibbon, Jude, Vulliamy, Tom, Dokal, Inderjeet

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Triallelic and epigenetic-like inheritance in human disorders of telomerase von Collopy, Laura C., Walne, Amanda J., Cardoso, Shirleny, de la Fuente, Josu, Mohamed, Mahfuzah, Toriello, Helga, Tamary, Hannah, Ling, AdamJ.Y.V., Lloyd, Timothy, Kassam, Rebecca, Tummala, Hemanth, Vulliamy, Thomas J., Dokal, Inderjeet

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Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita–like phenotypes von Tummala, Hemanth, Collopy, Laura C., Walne, Amanda J., Ellison, Alicia, Cardoso, Shirleny, Aksu, Tekin, Yarali, Nese, Aslan, Deniz, Fikret Akata, Rüştü, Teo, Juliana, Songyang, Zhou, Pontikos, Nikolas, Fitzgibbon, Jude, Tomita, Kazunori, Vulliamy, Tom, Dokal, Inderjeet

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

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