GuidelineEuropean journal of human genetics : EJHG2012
EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.
Guideline in European journal of human genetics : EJHG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 1 of them a synthesis that pooled it.
What it found
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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
56 citing papers in PubMed, 1 synthesis or guideline pooled it, 140 citations in OpenAlex.
- Systematic review of health related-quality of life in adults with osteogenesis imperfecta.Orphanet journal of rare diseases · 2023Pooled it
- Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients.European journal of human genetics : EJHG · 2019Trial
- The natural history of osteogenesis imperfecta: a systematic review.Bone reports · 2026Review
- Fifteen-minute consultation: Modern diagnostic approach to the child with recurrent fractures.Archives of disease in childhood. Education and practice edition · 2026Article
- A New Perspective on Osteogenesis Imperfecta: From Cellular Mechanisms to the Systemic Impact of Collagen Dysfunction.International journal of molecular sciences · 2026Review
- Assessment of Collagen and Fibroblast Properties via Label-Free Higher Harmonic Generation Microscopy in Three-Dimensional Models of Osteogenesis Imperfecta and Ehlers-Danlos Syndrome.International journal of molecular sciences · 2025Article
- The Use of Bone Biomarkers, Imaging Tools, and Genetic Tests in the Diagnosis of Rare Bone Disorders.Calcified tissue international · 2025Review
- Comprehensive Bibliometric Assessment of the Top 50 Cited Articles on Osteogenesis Imperfecta.Orthopedic reviews · 2025Article
- Osteogenesis Imperfecta: A study of the patient journey in 13 European countries.Orphanet journal of rare diseases · 2024Article
- Osteoporosis and Bone Fragility in Children: Diagnostic and Treatment Strategies.Journal of clinical medicine · 2024Review
- The Regulatory Network of CREB3L1 and Its Roles in Physiological and Pathological Conditions.International journal of medical sciences · 2024Review
- The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review.Orphanet journal of rare diseases · 2023Article
- Comprehensive pain management strategy for infants with moderate to severe osteogenesis imperfecta in the perinatal period.Paediatric & neonatal pain · 2021Review
- Collagen transport and related pathways in Osteogenesis Imperfecta.Human genetics · 2021Review
- Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands.Molecular genetics & genomic medicine · 2021Article
- Implant-Prosthetic Restoration of a Patient with Osteogenesis Imperfecta: A Case Report.International journal of environmental research and public health · 2021Article
- Incidence and treatment of adult femoral fractures with osteogenesis imperfecta: An analysis of a center of 72 patients in Taiwan.International journal of medical sciences · 2021Article
- Cervical kyphosis: A predominant feature of patients with osteogenesis imperfecta type 5.Bone reports · 2020Article
- A 235 Kb deletion at 17q21.33 encompassing the COL1A1, and two additional secondary copy number variants in an infant with type I osteogenesis imperfecta: A rare case report.Molecular genetics & genomic medicine · 2020Article
- Reproductive options for families at risk of Osteogenesis Imperfecta: a review.Orphanet journal of rare diseases · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 6 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Osteogenesis imperfecta (OI) comprises a group of inherited disorders characterized by bone fragility and increased susceptibility to fractures. Historically, the laboratory confirmation of the diagnosis OI rested on cultured dermal fibroblasts to identify decreased or abnormal production of abnormal type I (pro)collagen molecules, measured by gel electrophoresis. With the discovery of COL1A1 and COL1A2 gene variants as a cause of OI, sequence analysis of these genes was added to the diagnostic process. Nowadays, OI is known to be genetically heterogeneous. About 90% of individuals with OI are heterozygous for causative variants in the COL1A1 and COL1A2 genes. The majority of remaining affected individuals have recessively inherited forms of OI with the causative variants in the more recently discovered genes CRTAP, FKBP10, LEPRE1,PLOD2, PPIB, SERPINF1, SERPINH1 and SP7, or in other yet undiscovered genes. These advances in the molecular genetic diagnosis of OI prompted us to develop new guidelines for molecular testing and reporting of results in which we take into account that testing is also used to 'exclude' OI when there is suspicion of non-accidental injury. Diagnostic flow, methods and reporting scenarios were discussed during an international workshop with 17 clinicians and scientists from 11 countries and converged in these best practice guidelines for the laboratory diagnosis of OI.
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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.