Associated Papers
Case Series: Clinical Significance of Heterozygous Pathogenic RTEL1 Variants Identified via Routine Clinical Genetic Diagnostics.
Wedge E et al.
American Journal of Medical Genetics. Part A, 2025
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.
Repiská G et al.
Genes, 2025
Late-onset telomere biology disorders in adults: clinical insights and treatment outcomes from a retrospective registry cohort.
Tometten M et al.
Blood Advances, 2025
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
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
Genotype and Associated Cancer Risk in Individuals With Telomere Biology Disorders.
Niewisch MR et al.
Jama Network Open, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.
Tummala H et al.
Embo Molecular Medicine, 2024
The many faces of the helicase RTEL1 at telomeres and beyond.
Hourvitz N et al.
Trends in Cell Biology, 2024
Implementation of a prospective screening strategy to identify adults with a telomere biology disorder among those undergoing lung transplant evaluation for interstitial lung disease.
Banaszak LG et al.
Respiratory Medicine, 2023
Neonatal intestinal obstruction in Hoyeraal-Hreidarsson syndrome with novel RTEL1 variants.
Tobai H et al.
Pediatric Blood & Cancer, 2023
The Genetic Landscape of Familial Pulmonary Fibrosis.
Liu Q et al.
American Journal of Respiratory and Critical Care Medicine, 2023
Genetic Variant Overlap Analysis Identifies Established and Putative Genes Involved in Pulmonary Fibrosis.
Groen K et al.
International Journal of Molecular Sciences, 2023
Compound heterozygous mutations in the helicase RTEL1 causing Hoyeraal-Hreidarsson syndrome with Blake`s pouch cyst: a case report.
He M et al.
The Turkish Journal of Pediatrics, 2023
Utility of whole genome sequencing in assessing risk and clinically relevant outcomes for pulmonary fibrosis.
Zhang D et al.
The European Respiratory Journal, 2022
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
Cancer spectrum and outcomes in the Mendelian short telomere syndromes.
Schratz KE et al.
Blood, 2020
From organ to cell: Multi-level telomere length assessment in patients with idiopathic pulmonary fibrosis.
van Batenburg AA et al.
Plos One, 2020
Regulator of telomere length 1 (RTEL1) mutations are associated with heterogeneous pulmonary and extra-pulmonary phenotypes.
Borie R et al.
The European Respiratory Journal, 2019
Heterozygous RTEL1 variants in bone marrow failure and myeloid neoplasms.
Marsh JCW et al.
Blood Advances, 2018
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
Novel Compound Heterozygous RTEL1 Gene Mutations in a Patient With Hoyeraal-Hreidarsson Syndrome.
Moriya K et al.
Pediatric Blood & Cancer, 2016
Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder.
Glousker G et al.
British Journal of Haematology, 2015
[RTEL1 (regulator of telomere elongation helicase 1), a DNA helicase essential for genome stability].
Le Guen T et al.
Medecine Sciences : M/s, 2013
Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.
Ballew BJ et al.
Human Genetics, 2013