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
Late-onset telomere biology disorders in adults: clinical insights and treatment outcomes from a retrospective registry cohort.
Tometten M et al.
Blood Advances, 2025
39938003 (PubMed )
Supplement: BLOODA_ADV-2024-014632-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
Genotype and Associated Cancer Risk in Individuals With Telomere Biology Disorders.
Niewisch MR et al.
Jama Network Open, 2024
39661387 (PubMed )
Supplement: jamanetwopen-e2450111-s001.pdf
Comprehensive genetic analysis for identification of monogenic disorders and selection of appropriate treatments in pediatric patients with persistent thrombocytopenia.
Sato D et al.
Pediatric Hematology and Oncology, 2024
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
Safety and efficacy of pirfenidone and nintedanib in patients with idiopathic pulmonary fibrosis and carrying a telomere-related gene mutation.
Justet A et al.
The European Respiratory Journal, 2021
Clonal hematopoiesis in patients with dyskeratosis congenita.
Perdigones N et al.
American Journal of Hematology, 2016
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
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