Associated Papers
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
Telomere biology disorder presenting acutely with pulmonary fibrosis and hepatopulmonary syndrome in a young adult male.
Kung SC et al.
Respirology Case Reports, 2023
The genetics of monogenic intestinal epithelial disorders.
Babcock SJ et al.
Human Genetics, 2023
Functional interaction between compound heterozygous TERT mutations causes severe telomere biology disorder.
Niaz A et al.
Blood Advances, 2022
35477117 (PubMed )
Supplement: advancesADV2022007029-suppl1.pdf
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14
The clinical and functional effects of TERT variants in myelodysplastic syndrome.
Reilly CR et al.
Blood, 2021
Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis.
Dhindsa RS et al.
Communications Biology, 2021
33758299 (PubMed )
Supplement: 42003_2021_1910_MOESM4_ESM.xlsx › ExWAS_p_0.05
A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome.
Gramatges MM et al.
Blood, 2013
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