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Your search keyword '"Vulliamy, Tom"' showing total 9 results
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9 results on '"Vulliamy, Tom"'

1. The evolving genetic landscape of telomere biology disorder dyskeratosis congenita

Author

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, and Dokal, Inderjeet

Published
2024
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2. New WHO classification of genetic variants causing G6PD deficiency

Author

Luzzatto, Lucio, Bancone, Germana, Dugue, Pierre-Antoine, Jiang, Weiying, Minucci, Angelo, Nannelli, Caterina, Pfeffer, Daniel, Prchal, Josef, Sirdah, Mahmoud, Sodeinde, Olugbemiro, Vulliamy, Tom, Wanachiwanawin, Wanchai, Cunningham, Jane, and Bosman, Andrea

Subjects
Glucose-6-phosphate dehydrogenase deficiency -- Causes of -- Diagnosis, Genetic variation -- Identification and classification -- Health aspects, Government regulation, Health, World Health Organization -- Laws, regulations and rules
Abstract

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a widely distributed genetic abnormality, (1) affecting an estimated 500 million people worldwide. (2) Although mostly asymptomatic, G6PD deficiency can manifest clinically in three forms: [...]

Published
2024
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3. The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia

Author

Hakkarainen, Marja, Kaaja, Ilse, Douglas, Suvi P. M., Vulliamy, Tom, Dokal, Inderjeet, Soulier, Jean, Larcher, Lise, Peffault de Latour, Régis, Leblanc, Thierry, Sicre de Fontbrune, Flore, Siitonen, Timo, Lohi, Olli, Hellström-Lindberg, Eva, Barbany, Gisela, Tesi, Bianca, Shimamura, Akiko, Beier, Fabian, Jackson, Sharon, Kuperman, Amir Asher, Falik Zaccai, Tzipora, Tamary, Hannah, Mecucci, Cristina, Capolsini, Ilaria, Jahnukainen, Kirsi, Salmenniemi, Urpu, Niinimäki, Riitta, Varilo, Teppo, Kilpivaara, Outi, and Wartiovaara-Kautto, Ulla

Published
2023
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7. Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita

Author

Tummala, Hemanth, primary, Walne, Amanda, additional, Buccafusca, Roberto, additional, Alnajar, Jenna, additional, Szabo, Anita, additional, Robinson, Peter, additional, McConkie-Rosell, Allyn, additional, Wilson, Meredith, additional, Crowley, Suzanne, additional, Kinsler, Veronica, additional, Ewins, Anna-Maria, additional, Madapura, Pradeepa M., additional, Patel, Manthan, additional, Pontikos, Nikolas, additional, Codd, Veryan, additional, Vulliamy, Tom, additional, and Dokal, Inderjeet, additional

Published
2024
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8. P008: ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: Addressing the need for genetic variant classification in G6PD deficiency*

Author

Mohan, Shruthi, Geck, Renee, Fayer, Shawn, Donnelly, Roseann, Relling, Mary, Vulliamy, Tom, Caudle, Kelly, Waddell, Amber, Kendall, Essence, Domingo, Gonzalo, Minucci, Angelo, Ley, Benedikt, Chu, Cindy, Haidar, Cyrine, McLeod, Howard, Prchal, Josef, Sirdah, Mahmoud, Aggarwal, Vimla, Jiang, Weiying, Kyle, Emily, Weaver, Meredith, Whirl-Carrillo, Michelle, and Stergachis, Andrew

Published
2024
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9. Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment

Author

Armes, Hannah, primary, Bewicke‐Copley, Findlay, additional, Rio‐Machin, Ana, additional, Di Bella, Doriana, additional, Philippe, Céline, additional, Wozniak, Anna, additional, Tummala, Hemanth, additional, Wang, Jun, additional, Ezponda, Teresa, additional, Prosper, Felipe, additional, Dokal, Inderjeet, additional, Vulliamy, Tom, additional, Kilpivaara, Outi, additional, Wartiovaara‐Kautto, Ulla, additional, Fitzgibbon, Jude, additional, and Rouault‐Pierre, Kevin, additional

Published
2022
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