Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita
Walne, Amanda J., Vulliamy, Tom, Kirwan, Michael, Plagnol, Vincent, Dokal, Inderjeet
Published in American journal of human genetics (07.03.2013)
Published in American journal of human genetics (07.03.2013)
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High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders
Norris, Kevin, Walne, Amanda J., Ponsford, Mark J., Cleal, Kez, Grimstead, Julia W., Ellison, Alicia, Alnajar, Jenna, Dokal, Inderjeet, Vulliamy, Tom, Baird, Duncan M.
Published in Human genetics (01.06.2021)
Published in Human genetics (01.06.2021)
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Journal Article
Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita
Tummala, Hemanth, Walne, Amanda, Collopy, Laura, Cardoso, Shirleny, de la Fuente, Josu, Lawson, Sarah, Powell, James, Cooper, Nicola, Foster, Alison, Mohammed, Shehla, Plagnol, Vincent, Vulliamy, Thomas, Dokal, Inderjeet
Published in The Journal of clinical investigation (01.05.2015)
Published in The Journal of clinical investigation (01.05.2015)
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Journal Article
Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita
Vulliamy, Tom, Beswick, Richard, Kirwan, Michael, Marrone, Anna, Digweed, Martin, Walne, Amanda, Dokal, Inderjeet
Published in Proceedings of the National Academy of Sciences - PNAS (10.06.2008)
Published in Proceedings of the National Academy of Sciences - PNAS (10.06.2008)
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Journal Article
Nucleotide sugars correlate with leukocyte telomere length as part of a dyskeratosis congenita metabolomic plasma signature
Li, Yufeng, Sági-Kiss, Virág, James, Emma L N, Dokal, Inderjeet, Parkinson, Kenneth E, Bundy, Jacob G
Published in Haematologica (Roma) (08.08.2024)
Published in Haematologica (Roma) (08.08.2024)
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Acquired somatic variants in inherited myeloid malignancies
Armes, Hannah, Rio-Machin, Ana, Krizsán, Szilvia, Bödör, Csaba, Kaya, Fadimana, Bewicke-Copley, Findlay, Alnajar, Jenna, Walne, Amanda, Péterffy, Borbála, Tummala, Hemanth, Rouault-Pierre, Kevin, Dokal, Inderjeet, Vulliamy, Tom, Fitzgibbon, Jude
Published in Leukemia (01.05.2022)
Published in Leukemia (01.05.2022)
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Mutations in the telomere capping complex in bone marrow failure and related syndromes
Walne, Amanda J, Bhagat, Tanya, Kirwan, Michael, Gitiaux, Cyril, Desguerre, Isabelle, Leonard, Norma, Nogales, Elena, Vulliamy, Tom, Dokal, Inderjeet S
Published in Haematologica (Roma) (01.03.2013)
Published in Haematologica (Roma) (01.03.2013)
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Journal Article
Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease
Walne, Amanda, Tummala, Hemanth, Ellison, Alicia, Cardoso, Shirleny, Sidhu, Jasmin, Sciuccati, Gabriela, Vulliamy, Tom, Dokal, Inderjeet
Published in Haematologica (Roma) (01.07.2018)
Published in Haematologica (Roma) (01.07.2018)
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Journal Article
ERCC6L2 Mutations Link a Distinct Bone-Marrow-Failure Syndrome to DNA Repair and Mitochondrial Function
Tummala, Hemanth, Kirwan, Michael, Walne, Amanda J., Hossain, Upal, Jackson, Nicholas, Pondarre, Corinne, Plagnol, Vincent, Vulliamy, Tom, Dokal, Inderjeet
Published in American journal of human genetics (06.02.2014)
Published in American journal of human genetics (06.02.2014)
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Journal Article
Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome
Marrone, Anna, Walne, Amanda, Tamary, Hannah, Masunari, Yuka, Kirwan, Michael, Beswick, Richard, Vulliamy, Tom, Dokal, Inderjeet
Published in Blood (15.12.2007)
Published in Blood (15.12.2007)
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Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations
Vulliamy, Tom J, Kirwan, Michael J, Beswick, Richard, Hossain, Upal, Baqai, Charlotte, Ratcliffe, Anna, Marsh, Judith, Walne, Amanda, Dokal, Inderjeet
Published in PloS one (13.09.2011)
Published in PloS one (13.09.2011)
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Journal Article
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
Mason, Philip J, Vulliamy, Tom, Marrone, Anna, Goldman, Frederick, Dearlove, Andrew, Bessler, Monica, Dokal, Inderjeet
Published in Nature (London) (27.09.2001)
Published in Nature (London) (27.09.2001)
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A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M
de Winter, Johan P, Wang, Weidong, Meetei, Amom Ruhikanta, Medhurst, Annette L, Ling, Chen, Xue, Yutong, Singh, Thiyam Ramsing, Bier, Patrick, Steltenpool, Jurgen, Stone, Stacie, Dokal, Inderjeet, Mathew, Christopher G, Hoatlin, Maureen, Joenje, Hans
Published in Nature genetics (01.09.2005)
Published in Nature genetics (01.09.2005)
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Journal Article
Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita
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.
Published in American journal of human genetics (09.03.2012)
Published in American journal of human genetics (09.03.2012)
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Journal Article
Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia
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
Published in Human mutation (01.11.2009)
Published in Human mutation (01.11.2009)
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In-vitro analysis of the effects of TA65 and danazol on the proliferation and telomerase activity of T lymphocytes in bone marrow failure syndromes
Collins, Janine, Dr, Tummala, Hemanth, PhD, Collopy, Laura, MSc, Vulliamy, Tom, PhD, Dokal, Inderjeet, Prof
Published in The Lancet (British edition) (25.02.2016)
Published in The Lancet (British edition) (25.02.2016)
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