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
Utility of whole genome sequencing in assessing risk and clinically relevant outcomes for pulmonary fibrosis.
Zhang D et al.
The European Respiratory Journal, 2022
Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes.
Gálvez E et al.
Hemasphere, 2021
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
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
An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis.
Petrovski S et al.
American Journal of Respiratory and Critical Care Medicine, 2017
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