Associated Papers
Human RPA is an essential telomerase processivity factor for maintaining telomeres.
Agrawal S et al.
Science (new York, N.y.), 2025
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.
Tummala H et al.
Embo Molecular Medicine, 2024
39198715 (PubMed )
Supplement: 44321_2024_118_MOESM4_ESM.xlsx › Dataset_EV1
Acquired somatic variants in inherited myeloid malignancies.
Armes H et al.
Leukemia, 2022
High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders.
Norris K et al.
Human Genetics, 2021
33709208 (PubMed )
Supplement: 439_2021_2257_MOESM1_ESM.pdf
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.
Rio-Machin A et al.
Nature Communications, 2020
32098966 (PubMed )
Supplement: 41467_2020_14829_MOESM5_ESM.xlsx › ST_2_Group_1_families
Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes.
Arias-Salgado EG et al.
Orphanet Journal of Rare Diseases, 2019
Telomere-regulating genes and the telomere interactome in familial cancers.
Robles-Espinoza CD et al.
Molecular Cancer Research : Mcr, 2015
Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia.
Holme H et al.
British Journal of Haematology, 2012
Dyskeratosis congenita and the DNA damage response.
Kirwan M et al.
British Journal of Haematology, 2011
Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations.
Vulliamy TJ et al.
Plos One, 2011
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