Associated Papers
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
Digital telomere measurement by long-read sequencing distinguishes healthy aging from disease.
Sanchez SE et al.
Nature Communications, 2024
A Test to Comprehensively Capture the Known Genetic Component of Familial Pulmonary Fibrosis.
Villeneuve J et al.
American Journal of Respiratory Cell and Molecular Biology, 2024
Integrated proteogenomic analysis for inherited bone marrow failure syndrome.
Wakamatsu M et al.
Leukemia, 2024
38740980 (PubMed )
Supplement: 41375_2024_2263_MOESM2_ESM.xlsx › Table_S4
Digital telomere measurement by long-read sequencing distinguishes healthy aging from disease.
Sanchez SE et al.
Biorxiv : the Preprint Server for Biology, 2023
Editing TINF2 as a potential therapeutic approach to restore telomere length in dyskeratosis congenita.
Choo S et al.
Blood, 2022
de Novo TINF2 C.845G>A: Pathogenic Variant in Patient with Dyskeratosis Congenita.
Kocheva SA et al.
Balkan Journal of Medical Genetics : Bjmg, 2021
The molecular genetics of the telomere biology disorders.
Bertuch AA
Rna Biology, 2016
Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis.
Alder JK et al.
Chest, 2015
Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2.
Vulliamy T et al.
Clinical Genetics, 2012
Molecular mechanisms of telomere biology disorders.
Grill S et al.
The Journal of Biological Chemistry, 0
Select a paper to view details