Search Results - "Vulliamy, Tom"

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

“…Dyskeratosis congenita (DC) and its phenotypically severe variant, Hoyeraal-Hreidarsson syndrome (HHS), are multisystem bone-marrow-failure syndromes in which…”
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Germline NPM1 mutations lead to altered rRNA 2′-O-methylation and cause dyskeratosis congenita by 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

“…RNA modifications are emerging as key determinants of gene expression. However, compelling genetic demonstrations of their relevance to human disease are…”
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Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations by Vulliamy, Tom J, Kirwan, Michael J, Beswick, Richard, Hossain, Upal, Baqai, Charlotte, Ratcliffe, Anna, Marsh, Judith, Walne, Amanda, Dokal, Inderjeet

“…The bone marrow failure syndrome dyskeratosis congenita (DC) has been considered to be a disorder of telomere maintenance in which disease features arise due…”
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Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita by Vulliamy, Tom, Beswick, Richard, Kirwan, Michael, Marrone, Anna, Digweed, Martin, Walne, Amanda, Dokal, Inderjeet

“…Dyskeratosis congenita is a premature aging syndrome characterized by muco-cutaneous features and a range of other abnormalities, including early greying,…”
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Inherited bone marrow failure syndromes by Dokal, Inderjeet, Vulliamy, Tom

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

“…Telomere biology disorders are complex clinical conditions that arise due to mutations in genes required for telomere maintenance. Telomere length has been…”
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Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease by 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 by Tummala, Hemanth, Kirwan, Michael, Walne, Amanda J., Hossain, Upal, Jackson, Nicholas, Pondarre, Corinne, Plagnol, Vincent, Vulliamy, Tom, Dokal, Inderjeet

“…Exome sequencing was performed in three index cases with bone marrow failure and neurological dysfunction and whose parents are first-degree cousins…”
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Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation by Vulliamy, Tom J., Marrone, Anna, Knight, Stuart W., Walne, Amanda, Mason, Philip J., Dokal, Inderjeet

“…The two genes mutated in the bone marrow failure syndrome dyskeratosis congenita (DC) both encode components of the telomerase complex responsible for…”
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ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants by 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.

“…Standardized variant curation is essential for clinical care recommendations for patients with inherited disorders. Clinical Genome Resource (ClinGen) variant…”
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Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data by 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

“…Phenopolis is an open-source web server providing an intuitive interface to genetic and phenotypic databases. It integrates analysis tools such as variant…”
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The evolving genetic landscape of telomere biology disorder dyskeratosis congenita by 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

“…Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome, caused by genetic mutations that principally affect telomere biology…”
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Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome by Marrone, Anna, Walne, Amanda, Tamary, Hannah, Masunari, Yuka, Kirwan, Michael, Beswick, Richard, Vulliamy, Tom, Dokal, Inderjeet

“…Dyskeratosis congenita (DC) is a multisystem bone marrow failure syndrome characterized by a triad of mucocutaneous abnormalities and an increased…”
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The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita by Mason, Philip J, Vulliamy, Tom, Marrone, Anna, Goldman, Frederick, Dearlove, Andrew, Bessler, Monica, Dokal, Inderjeet

“…Dyskeratosis congenita is a progressive bone-marrow failure syndrome that is characterized by abnormal skin pigmentation, leukoplakia and nail dystrophy…”
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Mutations in the telomere capping complex in bone marrow failure and related syndromes by Walne, Amanda J, Bhagat, Tanya, Kirwan, Michael, Gitiaux, Cyril, Desguerre, Isabelle, Leonard, Norma, Nogales, Elena, Vulliamy, Tom, Dokal, Inderjeet S

“…Dyskeratosis congenita and its variants have overlapping phenotypes with many disorders including Coats plus, and their underlying pathology is thought to be…”
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Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita by 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.

“…Revertant mosaicism is an infrequently observed phenomenon caused by spontaneous correction of a pathogenic allele. We have observed such reversions caused by…”
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Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia by 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

“…The primary pathology in many cases of myelodysplasia (MDS) and acute myeloid leukemia (AML) remains unknown. In some cases, two or more affected members have…”
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Intermittent montelukast in children aged 10 months to 5 years with wheeze (WAIT trial): a multicentre, randomised, placebo-controlled trial by Nwokoro, Chinedu, MBBChir, Pandya, Hitesh, MD, Turner, Stephen, MD, Eldridge, Sandra, Prof, Griffiths, Christopher J, Prof, Vulliamy, Tom, PhD, Price, David, Prof, Sanak, Marek, PhD, Holloway, John W, PhD, Brugha, Rossa, BMBCh, Koh, Lee, BSC, Dickson, Iain, MRes, Rutterford, Clare, MSc, Grigg, Jonathan, Prof

“…Summary Background The effectiveness of intermittent montelukast for wheeze in young children is unclear. We aimed to assess whether intermittent montelukast…”
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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 by Collins, Janine, Dr, Tummala, Hemanth, PhD, Collopy, Laura, MSc, Vulliamy, Tom, PhD, Dokal, Inderjeet, Prof

“…Abstract Background The bone marrow failure syndromes are a diverse group of rare genetic conditions. Mutations in telomere maintenance genes cause a large…”
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Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies by 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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