Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita
2013 · The American Journal of Human Genetics · 233 citations
https://doi.org/10.1016/j.ajhg.2013.02.001
T
Tom Vulliamy
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Tom Vulliamy is an academic researcher from Queen Mary University of London. The author has contributed to research in topics: Telomeres, Telomerase, and Senescence & Neonatal Health and Biochemistry & Acute Myeloid Leukemia Research. The author has an h-index of 59, co-authored 148 publications.
Papers by this author
worksThe complex genetic landscape of familial MDS and AML reveals pathogenic germline variants
2020 · Nature Communications · 115 citations
https://doi.org/10.1038/s41467-020-14829-5
Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia
2016 · Leukemia · 70 citations
https://doi.org/10.1038/leu.2016.124
Laboratory diagnosis of G6PD deficiency. A British Society for Haematology Guideline
2020 · British Journal of Haematology · 53 citations
https://doi.org/10.1111/bjh.16366
Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita
2022 · The American Journal of Human Genetics · 33 citations
https://doi.org/10.1016/j.ajhg.2022.06.014
Disease characteristics and outcomes of acute myeloid leukemia in germline <i>RUNX1</i> deficiency (Familial Platelet Disorder with associated Myeloid Malignancy)
2025 · HemaSphere · 8 citations
https://doi.org/10.1002/hem3.70057
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