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
Efficient Installation of Heterozygous Mutations in Human Pluripotent Stem Cells Using Prime Editing.
Suter A et al.
The Crispr Journal, 2025
A tiered strategy to identify relevant genetic variants in familial pulmonary fibrosis: a proof of concept for the clinical practice.
Alonso-González A et al.
European Journal of Human Genetics : Ejhg, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Separation of telomere protection from length regulation by two different point mutations at amino acid 492 of RTEL1.
Smoom R et al.
Nucleic Acids Research, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 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
Genotype and Associated Cancer Risk in Individuals With Telomere Biology Disorders.
Niewisch MR et al.
Jama Network Open, 2024
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Genetic Testing Goes Beyond Imaging and Histological Evaluation in Pleuroparenchymal Fibroelastosis.
Alrehaili G et al.
Lung, 2024
The many faces of the helicase RTEL1 at telomeres and beyond.
Hourvitz N et al.
Trends in Cell Biology, 2024
Lung transplant recipients with telomere-mediated pulmonary fibrosis have increased risk for hematologic complications.
Hannan SJ et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 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
Dyskeratosis congenita with heterozygous RTEL1 mutations presenting with fibrotic hypersensitivity pneumonitis.
Han J et al.
Respiratory Medicine Case Reports, 2023
Evaluation of genetic alterations in hereditary cancer susceptibility genes in the Ashkenazi Jewish women community of Mexico.
Díaz-Velásquez CE et al.
Frontiers in Genetics, 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
Compound heterozygous mutation of RTEL1 in interstitial lung disease complicated with pneumothorax and emphysema: A case report and literature review.
Luo M et al.
Respirology Case Reports, 2022
Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.
Waks AG et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Full length RTEL1 is required for the elongation of the single-stranded telomeric overhang by telomerase.
Awad A et al.
Nucleic Acids Research, 2020
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
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
Clinical and Molecular Heterogeneity of RTEL1 Deficiency.
Speckmann C et al.
Frontiers in Immunology, 2017
Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.
Fedick AM et al.
Clinical Genetics, 2015
Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder.
Glousker G et al.
British Journal of Haematology, 2015
Rare variants in RTEL1 are associated with familial interstitial pneumonia.
Cogan JD et al.
American Journal of Respiratory and Critical Care Medicine, 2015
Telomere-regulating genes and the telomere interactome in familial cancers.
Robles-Espinoza CD et al.
Molecular Cancer Research : Mcr, 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
Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.
Deng Z et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013
Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.
Ballew BJ et al.
Human Genetics, 2013
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.
Walne AJ et al.
American Journal of Human Genetics, 2013