Tom J. Vulliamy
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 51 publications
A quantitative definition of the clinical manifestations of GATA2 deficiency in adults.
Journal: Blood
Published: May 18, 2026
Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.
Journal: American journal of human genetics
Published: June 12, 2024
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.
Journal: EMBO molecular medicine
Published: April 10, 2024
Disease characteristics and outcomes of acute myeloid leukemia in germline RUNX1 deficiency (Familial Platelet Disorder with associated Myeloid Malignancy).
Journal: HemaSphere
Published: March 25, 2024
New WHO classification of genetic variants causing G6PD deficiency.
Journal: Bulletin of the World Health Organization
Published: December 08, 2023
The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia.
Journal: Blood
Published: December 15, 2022
Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment.
Journal: British journal of haematology
Published: June 17, 2022
Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita.
Journal: American journal of human genetics
Published: April 28, 2022
Acquired somatic variants in inherited myeloid malignancies.
Journal: Leukemia
Published: October 08, 2021
Genome-wide whole-blood transcriptome profiling across inherited bone marrow failure subtypes.
Journal: Blood advances
Published: May 24, 2021
High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders.
Journal: Human genetics
Published: October 05, 2020
Last Updated: 09/26/2026