ArticleHuman genetics2021
High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders.
Article in Human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Shorter Telomeres and Faster Telomere Attrition in Individuals With Five Syndromic Forms of Intellectual Disability: A Systematic Review and Meta-Analysis.Journal of intellectual disability research : JIDR · 2025Pooled it
- Tissue morphology predicts telomere shortening in human tissues.Cell reports methods · 2026Article
- Suspected parental gonadal/gonadosomatic mosaicism for a TINF2 mutation in two sisters with dyskeratosis congenita.Frontiers in genetics · 2026Article
- TeloNet is born: why all specialities need to be aware of telomere biology disorders.Frontiers in medicine · 2026Review
- Telomere length and prevalent chronic lung disease in middle-aged and older adults: socioeconomic heterogeneity and early-life tobacco exposure in the health and retirement study.Frontiers in medicine · 2026Article
- Telomere Length Abnormality: Investigating Approaches and Correlations with Cancer, Bone Marrow Failure and Hematological Malignancies.Biomedicines · 2025Review
- Beyond Hematologic Malignancies: Colorectal Cancer as a Solid Tumor Manifestation of Inherited Bone Marrow Failure Syndromes.International journal of molecular sciences · 2025Review
- A novel TERT variant associated with a telomere biology disorder and challenges in variant classification.EJHaem · 2025Article
- Methods for telomere length measurement: an update on current technologies and emerging approaches.Frontiers in molecular biosciences · 2025Review
- Techniques for assessing telomere length: A methodological review.Computational and structural biotechnology journal · 2024Review
- The Notable Role of Telomere Length Maintenance in Complex Diseases.Biomedicines · 2024Review
- High-throughput single telomere analysis using DNA microarray and fluorescent in situ hybridization.Nucleic acids research · 2024Article
- Insights into the length and breadth of methodologies harnessed to study human telomeres.Biomarker research · 2024Article
- The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.EMBO molecular medicine · 2024Article
- Digital telomere measurement by long-read sequencing distinguishes healthy aging from disease.Nature communications · 2024Article
- Telomere length and cancer risk: finding Goldilocks.Biogerontology · 2024Review
- Clinical manifestations of telomere biology disorders in adults.Hematology. American Society of Hematology. Education Program · 2023Review
- Genetic Counseling and Family Screening Recommendations in Patients with Telomere Biology Disorders.Current hematologic malignancy reports · 2023Review
- Experimental and Computational Approaches to Measure Telomere Length: Recent Advances and Future Directions.Current hematologic malignancy reports · 2023Review
- The distribution and accumulation of the shortest telomeres in telomere biology disorders.British journal of haematology · 2023Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
Telomere biology disorders are complex clinical conditions that arise due to mutations in genes required for telomere maintenance. Telomere length has been utilised as part of the diagnostic work-up of patients with these diseases; here, we have tested the utility of high-throughput STELA (HT-STELA) for this purpose. HT-STELA was applied to a cohort of unaffected individuals (n = 171) and a retrospective cohort of mutation carriers (n = 172). HT-STELA displayed a low measurement error with inter- and intra-assay coefficient of variance of 2.3% and 1.8%, respectively. Whilst telomere length in unaffected individuals declined as a function of age, telomere length in mutation carriers appeared to increase due to a preponderance of shorter telomeres detected in younger individuals (< 20 years of age). These individuals were more severely affected, and age-adjusted telomere length differentials could be used to stratify the cohort for overall survival (Hazard Ratio = 5.6 (1.5-20.5); p < 0.0001). Telomere lengths of asymptomatic mutation carriers were shorter than controls (p < 0.0001), but longer than symptomatic mutation carriers (p < 0.0001) and telomere length heterogeneity was dependent on the diagnosis and mutational status. Our data show that the ability of HT-STELA to detect short telomere lengths, that are not readily detected with other methods, means it can provide powerful diagnostic discrimination and prognostic information. The rapid format, with a low measurement error, demonstrates that HT-STELA is a new high-quality laboratory test for the clinical diagnosis of an underlying telomeropathy.
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Registered trials
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