Inherited bone marrow failure syndromes by Inderjeet Dokal, Tom Vulliamy

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Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations by Lina Basel-Vanagaite, Inderjeet Dokal, Hannah Tamary, Abraham Avigdor, Ben Zion Garty, Alexander Volkov, Tom Vulliamy

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Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease by Amanda Walne, Hemanth Tummala, Alicia Ellison, Shirleny Cardoso, Jasmin Sidhu, Gabriela Sciuccati, Tom Vulliamy, Inderjeet Dokal

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Exome sequencing identifies MPL as a causative gene in familial aplastic anemia by Amanda J. Walne, Arran Dokal, Vincent Plagnol, Richard Beswick, Michael Kirwan, Josu de la Fuente, Tom Vulliamy, Inderjeet Dokal

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Mutations in the telomere capping complex in bone marrow failure and related syndromes by Amanda J. Walne, Tanya Bhagat, Michael Kirwan, Cyril Gitiaux, Isabelle Desguerre, Norma Leonard, Elena Nogales, Tom Vulliamy, Inderjeet S. Dokal

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Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations by Anna Marrone, Priya Sokhal, Amanda Walne, Richard Beswick, Michael Kirwan, Sally Killick, Mike Williams, Judith Marsh, Tom Vulliamy, Inderjeet Dokal

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Parent-determined oral montelukast therapy for preschool wheeze with stratification for arachidonate 5-lipoxygenase (ALOX5) promoter genotype: a multicentre, randomised, placebo-co... by Chinedu Nwokoro, Hitesh Pandya, Stephen Turner, Sandra Eldridge, Christopher J Griffiths, Tom Vulliamy, David Price, Marek Sanak, John W Holloway, Rossa Brugha, Lee Koh, Iain Dickson, Clare Rutterford, Jonathan Grigg

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

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P008: ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: Addressing the need for genetic variant classification in G6PD deficiency* by Shruthi Mohan, Renee Geck, Shawn Fayer, Roseann Donnelly, Mary Relling, Tom Vulliamy, Kelly Caudle, Amber Waddell, Essence Kendall, Gonzalo Domingo, Angelo Minucci, Benedikt Ley, Cindy Chu, Cyrine Haidar, Howard McLeod, Josef Prchal, Mahmoud Sirdah, Vimla Aggarwal, Weiying Jiang, Emily Kyle, Meredith Weaver, Michelle Whirl-Carrillo, Andrew Stergachis

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The evolving genetic landscape of telomere biology disorder dyskeratosis congenita by Hemanth Tummala, Amanda J Walne, Mohsin Badat, Manthan Patel, Abigail M Walne, Jenna Alnajar, Chi Ching Chow, Ibtehal Albursan, Jennifer M Frost, David Ballard, Sally Killick, Peter Szitányi, Anne M Kelly, Manoj Raghavan, Corrina Powell, Reinier Raymakers, Tony Todd, Elpis Mantadakis, Sophia Polychronopoulou, Nikolas Pontikos, Tianyi Liao, Pradeep Madapura, Upal Hossain, Tom Vulliamy, Inderjeet Dokal

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Disease characteristics and outcomes of acute myeloid leukemia in germline RUNX1 deficiency (Familial Platelet Disorder with associated Myeloid Malignancy) by Martijn P. T. Ernst, Jurjen Versluis, Peter J. M. Valk, Marc Bierings, Rienk Y. J. Tamminga, Louise H. Hooimeijer, Konstanze Döhner, Paolo Gresele, Kiran Tawana, Saskia M. C. Langemeijer, Bert A. Van der Reijden, Helena Podgornik, Matjaz Sever, Tor H. A. Tvedt, Tom Vulliamy, Jude Fitzgibbon, Inderjeet Dokal, Panagiotis Baliakas, José M. Bastida, Christian Pohlkamp, Torsten Haferlach, Lise Larcher, Jean Soulier, Roger E. G. Schutgens, Kathleen Freson, Nicolas Duployez, Bob Löwenberg, Katrin Ericson, Jörg Cammenga, Tim Ripperger, Marc H. G. P. Raaijmakers

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

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The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants by Ana Rio-Machin, Tom Vulliamy, Nele Hug, Amanda Walne, Kiran Tawana, Shirleny Cardoso, Alicia Ellison, Nikolas Pontikos, Jun Wang, Hemanth Tummala, Ahad Fahad H. Al Seraihi, Jenna Alnajar, Findlay Bewicke-Copley, Hannah Armes, Michael Barnett, Adrian Bloor, Csaba Bödör, David Bowen, Pierre Fenaux, Andrew Green, Andrew Hallahan, Henrik Hjorth-Hansen, Upal Hossain, Sally Killick, Sarah Lawson, Mark Layton, Alison M. Male, Judith Marsh, Priyanka Mehta, Rogier Mous, Josep F. Nomdedéu, Carolyn Owen, Jiri Pavlu, Elspeth M. Payne, Rachel E. Protheroe, Claude Preudhomme, Nuria Pujol-Moix, Aline Renneville, Nigel Russell, Anand Saggar, Gabriela Sciuccati, David Taussig, Cynthia L. Toze, Anne Uyttebroeck, Peter Vandenberghe, Brigitte Schlegelberger, Tim Ripperger, Doris Steinemann, John Wu, Joanne Mason, Paula Page, Susanna Akiki, Kim Reay, Jamie D. Cavenagh, Vincent Plagnol, Javier F. Caceres, Jude Fitzgibbon, Inderjeet Dokal

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