未登录 The evolving genetic landscape of telomere biology disorder dyskeratosis congenita 端粒生物学疾病先天性角化不良的遗传景观 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; Szitanyi, 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 分享 收藏
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Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita (vol 109, pg 1472, 2022) Tummala, Hemanth; Walne, Amanda; Buccafusca, Roberto; Alnajar, Jenna; Szabo, Anita; Robinson, Peter; McConkie-Rosell, Allyn; Wilson, Meredith; Crowley, Suzanne; Kinsler, Veronica; Ewins, Anna-Maria; Madapura, Pradeepa M.; Patel, Manthan; Pontikos, Nikolas; Codd, Veryan; Vulliamy, Tom; Dokal, Inderjeet 分享 收藏
Dyskeratosis Congenita Links Telomere Attrition to \nAge-Related Systemic Energetics James, Emma Naomi; Sagi-Kiss, Virag; Bennett, Mark; Mycielska, Maria Elzbieta; Karen-Ng, Lee Peng; Roberts, Terry; Matta, Sheila; Dokal, Inderjeet; Bundy, Jacob Guy; Parkinson, Eric Kenneth 分享 收藏
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Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita Tummala, Hemanth; Walne, Amanda; Buccafusca, Roberto; Alnajar, Jenna; Szabo, Anita; Robinson, Peter; McConkie-Rosell, Allyn; Wilson, Meredith; Crowley, Suzanne; Kinsler, Veronica; Ewins, Anna-Maria; Madapura, Pradeepa M.; Patel, Manthan; Pontikos, Nikolas; Codd, Veryan; Vulliamy, Tom; Dokal, Inderjeet 分享 收藏
Acquired somatic variants in inherited myeloid malignancies Armes, Hannah; Rio-Machin, Ana; Krizsan, Szilvia; Bodor, Csaba; Kaya, Fadimana; Bewicke-Copley, Findlay; Alnajar, Jenna; Walne, Amanda; Peterffy, Borbala; Tummala, Hemanth; Rouault-Pierre, Kevin; Dokal, Inderjeet; Vulliamy, Tom; Fitzgibbon, Jude 分享 收藏
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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. 分享 收藏
A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure 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 分享 收藏
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants Rio-Machin, Ana; Vulliamy, Tom; Hug, Nele; Walne, Amanda; Tawana, Kiran; Cardoso, Shirleny; Ellison, Alicia; Pontikos, Nikolas; Wang, Jun; Tummala, Hemanth; Al Seraihi, Ahad Fahad H.; Alnajar, Jenna; Bewicke-Copley, Findlay; Armes, Hannah; Barnett, Michael; Bloor, Adrian; Bodor, Csaba; Bowen, David; Fenaux, Pierre; Green, Andrew; Hallahan, Andrew; Hjorth-Hansen, Henrik; Hossain, Upal; Killick, Sally; Lawson, Sarah; Layton, Mark; Male, Alison M.; Marsh, Judith; Mehta, Priyanka; Mous, Rogier; Nomdedeu, Josep F.; Owen, Carolyn; Pavlu, Jiri; Payne, Elspeth M.; Protheroe, Rachel E.; Preudhomme, Claude; Pujol-Moix, Nuria; Renneville, Aline; Russell, Nigel; Saggar, Anand; Sciuccati, Gabriela; Taussig, David; Toze, Cynthia L.; Uyttebroeck, Anne; Vandenberghe, Peter; Schlegelberger, Brigitte; Ripperger, Tim; Steinemann, Doris; Wu, John; Mason, Joanne; Page, Paula; Akiki, Susanna; Reay, Kim; Cavenagh, Jamie D.; Plagnol, Vincent; Caceres, Javier F.; Fitzgibbon, Jude; Dokal, Inderjeet 分享 收藏
Germline NPM1 mutations lead to altered rRNA 2′-O-methylation and cause dyskeratosis congenita 生殖系NPM1突变导致rRNA 2 ′-O-甲基化改变并引起先天性角化障碍 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 分享 收藏
The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity 欧洲免疫缺陷学会 (ESID) 注册用于先天性免疫缺陷临床诊断的工作定义 Seidel, Markus G.; Kindle, Gerhard; Gathmann, Benjamin; Quinti, Isabella; Buckland, Matthew; van Montfrans, Joris; Scheible, Raphael; Ruschb, Stephan; Gasteiger, Lukas M.; Grimbacher, Bodo; Mahlaoui, Nizar; Ehl, Stephan; Abinun, Mario; Albert, Michael; Cohen, Sarah Beaussant; Bustamante, Jacinta; Cant, Andrew; Casanova, Jean-Laurent; Chapel, Helen; de Saint Basile, Genevieve; de Vries, Esther; Dokal, Inderjeet; Donadieu, Jean; Durandy, Anne; Edgar, David; Espanol, Teresa; Etzioni, Amos; Fischer, Alain; Gaspar, Bobby; Gatti, Richard; Gennery, Andrew; Grigoriadou, Sofia; Holland, Steven; Janka, Gritta; Kanariou, Maria; Klein, Christoph; Lachmann, Helen; Lilic, Desa; Manson, Ania; Martinez, Natalia; Meyts, Isabelle; Moes, Nicolette; Moshous, Despina; Neven, Benedicte; Ochs, Hans; Picard, Capucine; Renner, Ellen; Rieux-Laucat, Frederic; Seger, Reinhard; Soresina, Annarosa; Stoppa-Lyonnet, Dominique; Thon, Vojtech; Thrasher, Adrian; van de Veer-Donk, Frank; Villa, Anna; Weemaes, Corry; Warnatz, Klaus; Wolska, Beata; Zhang, Shen-Yin 分享 收藏
Somatic mosaicism in Fanconi anemia: Molecular basis and clinical significance LoTenFoe, JR; Kwee, ML; Rooimans, MA; Oostra, AB; Veerman, AJP; vanWeel, M; Pauli, RM; Shahidi, NT; Dokal, I; Roberts, I; Altay, C; Gluckman, E; Gibson, RA; Mathew, CG; Arwert, F; Joenje, H 分享 收藏
Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants 基因组不稳定性是携带双等位基因ERCC6L2变体的骨髓衰竭患者转录缺陷的结果 Tummala, Hemanth; Dokal, Arran D.; Walne, Amanda; Ellison, Alicia; Cardoso, Shirleny; Amirthasigamanipillai, Saranha; Kirwan, Michael; Browne, Isobel; Sidhu, Jasmin K.; Rajeeve, Vinothini; Rio-Machin, Ana; Al Seraihi, Ahad; Duncombe, Andrew S.; Jenner, Matthew; Smith, Owen P.; Enright, Helen; Norton, Alice; Aksu, Tekin; Ozbek, Namik Yasar; Pontikos, Nikolas; Cutillas, Pedro; Dokal, Inderjeet; Vulliamy, Tom 分享 收藏
GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML Al Seraihi, Ahad F.; Rio-Machin, Ana; Tawana, Kiran; Bodor, Csaba; Wang, Jun; Nagano, Ai; Heward, James A.; Iqbal, Sameena; Beset, Steven; Lea, Nicholas; McLornan, Donal; Kozyra, Emilia J.; Wlodarski, Marcin W.; Niemeyer, Charlotte M.; Scott, Hamish; Hahn, Chris; Ellison, Alicia; Tummala, Hemanth; Cardoso, Shirleny Romualdo; Vulliamy, Tom; Dokal, Inderjeet; Butler, Tom; Smith, Matthew; Cavenagh, Jamie; Fitzgibbon, Jude 分享 收藏
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Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies Cardoso, Shirleny R.; Ellison, Alicia C. M.; Walne, Amanda J.; Cassiman, David; Raghavan, Manoj; Kishore, Bhuvan; Ancliff, Philip; Rodriguez-Vigil, Carmen; Dobbels, Bieke; Rio-Machin, Ana; Al Seraihi, Ahad F. H.; Pontikos, Nikolas; Tummala, Hemanth; Vulliamy, Tom; Dokal, Inderjeet 分享 收藏
Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis Walne, Amanda J.; Collopy, Laura; Cardoso, Shirleny; Ellison, Alicia; Plagnol, Vincent; Albayrak, Canan; Albayrak, Davut; Kilic, Sara Sebnem; Patiroglu, Turkan; Akar, Haluk; Godfrey, Keith; Carter, Tina; Marafie, Makia; Vora, Ajay; Sundin, Mikael; Vulliamy, Thomas; Tummala, Hemanth; Dokal, Inderjeet 分享 收藏
DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation 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 分享 收藏
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