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

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Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations von Vulliamy, Tom J, Kirwan, Michael J, Beswick, Richard, Hossain, Upal, Baqai, Charlotte, Ratcliffe, Anna, Marsh, Judith, Walne, Amanda, Dokal, Inderjeet

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Germline NPM1 mutations lead to altered rRNA 2′-O-methylation and cause dyskeratosis congenita von Nachmani, Daphna, Bothmer, Anne H., Grisendi, Silvia, Mele, Aldo, Bothmer, Dietmar, Lee, Jonathan D., Monteleone, Emanuele, Cheng, Ke, Zhang, Yang, Bester, Assaf C., Guzzetti, Alison, Mitchell, Caitlin A., Mendez, Lourdes M., Pozdnyakova, Olga, Sportoletti, Paolo, Martelli, Maria-Paola, Vulliamy, Tom J., Safra, Modi, Schwartz, Schraga, Luzzatto, Lucio, Bluteau, Olivier, Soulier, Jean, Darnell, Robert B., Falini, Brunangelo, Dokal, Inderjeet, Ito, Keisuke, Clohessy, John G., Pandolfi, Pier Paolo

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Inherited bone marrow failure syndromes von Dokal, Inderjeet, Vulliamy, Tom

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Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita von Vulliamy, Tom, Beswick, Richard, Kirwan, Michael, Marrone, Anna, Digweed, Martin, Walne, Amanda, 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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Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation von Vulliamy, Tom J., Marrone, Anna, Knight, Stuart W., Walne, Amanda, Mason, Philip J., 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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Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease von Walne, Amanda, Tummala, Hemanth, Ellison, Alicia, Cardoso, Shirleny, Sidhu, Jasmin, Sciuccati, Gabriela, Vulliamy, Tom, Dokal, Inderjeet

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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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The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita von Mason, Philip J, Vulliamy, Tom, Marrone, Anna, Goldman, Frederick, Dearlove, Andrew, Bessler, Monica, Dokal, Inderjeet

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ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants von Luo, Xi, Feurstein, Simone, Mohan, Shruthi, Porter, Christopher C., Jackson, Sarah A., Keel, Sioban, Chicka, Michael, Brown, Anna L., Kesserwan, Chimene, Agarwal, Anupriya, Luo, Minjie, Li, Zejuan, Ross, Justyne E., Baliakas, Panagiotis, Pineda-Alvarez, Daniel, DiNardo, Courtney D., Bertuch, Alison A., Mehta, Nikita, Vulliamy, Tom, Wang, Ying, Nichols, Kim E., Malcovati, Luca, Walsh, Michael F., Rawlings, Lesley H., McWeeney, Shannon K., Soulier, Jean, Raimbault, Anna, Routbort, Mark J., Zhang, Liying, Ryan, Gabriella, Speck, Nancy A., Plon, Sharon E., Wu, David, Godley, Lucy A.

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Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data von Pontikos, Nikolas, Yu, Jing, Moghul, Ismail, Withington, Lucy, Blanco-Kelly, Fiona, Vulliamy, Tom, Wong, Tsz Lun Ernest, Murphy, Cian, Cipriani, Valentina, Fiorentino, Alessia, Arno, Gavin, Greene, Daniel, Jacobsen, Julius O B, Clark, Tristan, Gregory, David S, Nemeth, Andrea M, Halford, Stephanie, Inglehearn, Chris F, Downes, Susan, Black, Graeme C, Webster, Andrew R, Hardcastle, Alison J, Plagnol, Vincent

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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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Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome von Marrone, Anna, Walne, Amanda, Tamary, Hannah, Masunari, Yuka, Kirwan, Michael, Beswick, Richard, Vulliamy, Tom, Dokal, Inderjeet

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Hematologically Important Mutations: Glucose-6-phosphate Dehydrogenase von Beutler, Ernest, Vulliamy, Tom J

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Inherited bone marrow failure in the pediatric patient von Dokal, Inderjeet, Tummala, Hemanth, Vulliamy, Tom

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Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita von Jongmans, Marjolijn C.J., Verwiel, Eugene T.P., Heijdra, Yvonne, Vulliamy, Tom, Kamping, Eveline J., Hehir-Kwa, Jayne Y., Bongers, Ernie M.H.F., Pfundt, Rolph, van Emst, Liesbeth, van Leeuwen, Frank N., van Gassen, Koen L.I., Geurts van Kessel, Ad, Dokal, Inderjeet, Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn J.L., Kuiper, Roland P.

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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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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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