ArticleHuman mutation2020
Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines.
Article in Human mutation, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02979119 (The European Paediatric Network for Haemophilia Management and the PedNet Haemophilia Registry), which is not on this map. Cited by 4 papers.
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.
The European Paediatric Network for Haemophilia Management and the PedNet Haemophilia Registry
Who cites it
4 citing papers in PubMed, 6 citations in OpenAlex.
- Longitudinal Evaluation of Immunological Biomarkers in Previously Untreated/Minimally Treated Patients With Severe and Moderately Severe Haemophilia A During Exposure to Factor VIII: Results From the HEMFIL Study.Haemophilia : the official journal of the World Federation of Hemophilia · 2025Article
- Multicenter Study of Diagnostic Tool for Patients with Hemophilia: From Bedside to Comprehensive Investigations.The application of clinical genetics · 2023Article
- Utility of ACMG classification to support interpretation of molecular genetic test results in patients with factor VII deficiency.Frontiers in medicine · 2023Article
- Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines.Human mutation · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 8 institutions in 8 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In hemophilia A and B, analysis of the F8 and F9 gene variants enables carrier and prenatal diagnosis and prediction of risk for the development of inhibitors. The PedNet Registry collects clinical, genetic, and phenotypic data prospectively on more than 2000 children with hemophilia. The genetic reports of F8/F9 gene variants were classified uniformly to Human Genome Variation Society nomenclature and reevaluated using international population- and disease-specific databases, literature survey and, where applicable, computational predictive programs. We report 88 novel variants in the F8 and F9 genes, 80 fulfilling criteria for Class 5 (pathogenic), six for Class 4 (likely pathogenic) and two fulfilling criteria for Class 3 (variant of unknown significance) of the American College of Medical Genetics and Genomics/Association for Molecular Pathologyguidelines together with information on the respective phenotype and inhibitor formation. The study highlights the need to reevaluate and update earlier genetic reports in hemophilia both locally but also in variant databases in light of changed nomenclature and new guidelines.
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.