ArticlePediatric blood & cancer2009
Dyskeratosis congenita: the first NIH clinical research workshop.
Article in Pediatric blood & cancer, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 69 citations in OpenAlex.
- Dyskeratosis Congenita and Squamous Cell Cancer of the Head and Neck: A Case Report and Systematic Review.The Annals of otology, rhinology, and laryngology · 2022Pooled it
- Disease-specific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita.Bone marrow transplantation · 2011Trial
- Telomere length as a marker of biological age in paediatric multiple sclerosis.Journal of neurology, neurosurgery, and psychiatry · 2026Article
- Epigenetic Aging in Pediatric-Onset Multiple Sclerosis.Neurology · 2025Article
- Rare and Common Variants inAmerican journal of respiratory and critical care medicine · 2022Article
- Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita.Genes · 2022Review
- A Novel Variant and a Missense Variant Identified in theClinical, cosmetic and investigational dermatology · 2022Article
- Oral Potentially Malignant Disorders: Etiology, Pathogenesis, and Transformation Into Oral Cancer.Frontiers in pharmacology · 2022Review
- Non-Melanoma Skin Cancers and Other Cutaneous Manifestations in Bone Marrow Failure Syndromes and Rare DNA Repair Disorders.Frontiers in oncology · 2022Review
- Two Cases of Dyskeratosis Congenita with Clinically Distinct Presentations, Seen in National University Hospital, Singapore.Skin appendage disorders · 2022Article
- Fructose Causes Liver Damage, Polyploidy, and Dysplasia in the Setting of Short Telomeres and p53 Loss.Metabolites · 2021Article
- An update on the biology and management of dyskeratosis congenita and related telomere biology disorders.Expert review of hematology · 2019Review
- Recognizing a Non-classical Telomeropathy before Hematopoietic Stem Cell Transplantation in Pediatric Patients: A Case Series.HemaSphere · 2019Article
- Complications for a Hoyeraal-Hreidarsson Syndrome Patient with a GermlineInternational journal of molecular sciences · 2019Article
- Clinical features of dyskeratosis congenita in mainland China: case reports and literature review.International journal of hematology · 2019Review
- Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.Clinical cancer research : an official journal of the American Association for Cancer Research · 2017Review
- Convergence of The Nobel Fields of Telomere Biology and DNA Repair.Photochemistry and photobiology · 2017Review
- Telomere-associated aging disorders.Ageing research reviews · 2017Review
- Clinical utility gene card for: Dyskeratosis congenita - update 2015.European journal of human genetics : EJHG · 2015Article
- Current insights into the diagnosis and treatment of inherited bone marrow failure syndromes in China.Stem cell investigation · 2015Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 8 institutions in 3 countries.
Funding
Abstract
Dyskeratosis congenita (DC) is a heterogeneous inherited bone marrow failure syndrome, characterized by abnormally short telomeres and mutations in telomere biology genes. The spectrum of telomere biology disorders is growing and the clinical management of these patients is complex. A DC-specific workshop was held at the NIH on September 19, 2008; participants included physicians, patients with DC, their family members, and representatives from other support groups. Data from the UK's DC Registry and the NCI's DC cohort were described. Updates on the function of the known DC genes were presented. Clinical aspects discussed included androgen therapy, stem cell transplant, cancer risk, and cancer screening. Families with DC met for the first time and formed a family support group (http://www.dcoutreach.com/). Ongoing, open collaboration between the clinical, scientific, and family communities is required for continued improvement in our understanding of DC and the clinical consequences of telomeric defects.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.