Thomas J. Vulliamy

Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita

Hemanth Tummala, Amanda J. Walne, Laura C. Collopy et al. · Journal of Clinical Investigation · 2015 · 199 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Triallelic and epigenetic-like inheritance in human disorders of telomerase

Laura C. Collopy, Amanda J. Walne, Shirleny Cardoso et al. · Blood · 2015 · 62 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

The Clinical Picture of the ERCC6L2 Disease - from Bone Marrow Failure to Acute Leukemia

Marja Hakkarainen, Ilse Kaaja, Suvi Douglas et al. · Blood · 2023 · 38 citations · Full text

Life Sciences, Genetics, Hematology +17

G6PD Aures: a new mutation (48 lle → Thr) causing mild G6PD deficiency is associated with favism

Khédoudja Nafa, Abderrezak Reghis, Naima Osmani et al. · Human Molecular Genetics · 1993 · 29 citations

Life Sciences, Genetics, Molecular Genetics +8

The glucose-6-phosphate dehydrogenase (G6PD) deficient variant G6PD union (454 Arg→Cys) has a worldwide distribution possibly due to recurrent mutation

Ana Rovlra, Thomas J. Vulliamy, Assumpció Pujades et al. · Human Molecular Genetics · 1994 · 19 citations

Life Sciences, Genetics, Hematology +11