Associated Papers
Structures of nucleotide-bound human telomerase at several steps of its telomeric DNA repeat addition cycle.
Balch S et al.
Nature Communications, 2026
41565648 (PubMed )
Supplement: 41467_2026_68560_MOESM3_ESM.xlsx › Sheet1
Rare variants and survival of patients with idiopathic pulmonary fibrosis: analysis of a multicentre, observational cohort study with independent validation.
Alonso-González A et al.
The Lancet. Respiratory Medicine, 2025
40311650 (PubMed )
Supplement: mmc1.pdf
ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders.
Sande CM et al.
The Journal of Clinical Investigation, 2025
40179146 (PubMed )
Supplement: jci-135-181659-s295.pdf
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
The genetics of monogenic intestinal epithelial disorders.
Babcock SJ et al.
Human Genetics, 2023
Fanconi Anemia germline variants as susceptibility factors in aplastic anemia, MDS and AML.
Przychodzen B et al.
Oncotarget, 2018
29416752 (PubMed )
Supplement: oncotarget-09-2050-s001.pdf
Clonal hematopoiesis in patients with dyskeratosis congenita.
Perdigones N et al.
American Journal of Hematology, 2016
Triallelic and epigenetic-like inheritance in human disorders of telomerase.
Collopy LC et al.
Blood, 2015
A family with Hoyeraal-Hreidarsson syndrome and four variants in two genes of the telomerase core complex.
Vogiatzi P et al.
Pediatric Blood & Cancer, 2013
Telomerase mutation: a genetic risk factor for cirrhosis.
Chaiteerakij R et al.
Hepatology (baltimore, Md.), 2011
Constitutional telomerase mutations are genetic risk factors for cirrhosis.
Calado RT et al.
Hepatology (baltimore, Md.), 2011
High resolution melting analysis for the identification of novel mutations in DKC1 and TERT genes in patients with dyskeratosis congenita.
Carrillo J et al.
Blood Cells, Molecules & Diseases, 0
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