ArticleEuropean journal of human genetics : EJHG2020
EMQN best practice guidelines for genetic testing in dystrophinopathies.
Article in European journal of human genetics : EJHG, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled it.
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Who cites it
38 citing papers in PubMed, 1 synthesis or guideline pooled it, 66 citations in OpenAlex.
- International policies guiding the selection, analysis, and clinical management of secondary findings from genomic sequencing: A systematic review.American journal of human genetics · 2024Pooled it
- digitalMLPA EZtec-MS: A new highly multiplexed DNA probe-based technique for neonatal screening.European journal of human genetics : EJHG · 2026Article
- Duchenne muscular dystrophy coexisting with Down syndrome or Turner syndrome: Two case reports.World journal of clinical pediatrics · 2026Article
- Molecular Mechanisms and Therapeutic Strategies in Heart Failure Due to Dystrophin Deficiency: A Comprehensive Review.Reviews in cardiovascular medicine · 2026Review
- Stepwise genetic testing strategy identified pathogenic variants in 10 Chinese duchenne muscular dystrophy patients.Frontiers in genetics · 2026Article
- Spectrum and carrier frequency of DMD in Yueyang, China: a population-based analysis using NGS and MLPA.Frontiers in genetics · 2026Article
- Optical genome mapping identifies a balanced inversion disrupting DMD in a patient with Duchenne muscular dystrophy.Molecular cytogenetics · 2025Article
- Prenatal genetic counselors' attitudes, beliefs, and practices with discussing postnatal Duchenne muscular dystrophy treatment options.Journal of genetic counseling · 2025Article
- Whole-Body Skeletal Muscle MRI Patterns in Female Dystrophinopathy Carriers.Neurology. Genetics · 2025Article
- Epidemiological report and diagnostic approach used in the neuromuscular population of Liege, Belgium.Orphanet journal of rare diseases · 2025Article
- Molecular genetics of dystrophinopathy.Journal of human genetics · 2025Review
- Incidental finding of aFrontiers in pediatrics · 2025Article
- Optical genome mapping: Unraveling complex variations and enabling precise diagnosis in dystrophinopathy.Annals of clinical and translational neurology · 2025Article
- Review
- Diagnostic outcome of pro bono neurogenetic diagnostic service in Sri Lanka: A wealth creation.European journal of human genetics : EJHG · 2024Article
- Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases.BMC medical genomics · 2024Article
- Age-Related Blood Levels of Creatine Kinase-MM in Newborns and Patients with Duchenne Muscular Dystrophy: Considerations for the Development of Newborn Screening Algorithms.International journal of neonatal screening · 2024Article
- Comprehensive analysis of genomic complexity in the 5' end coding region of the DMD gene in patients of exons 1-2 duplications based on long-read sequencing.BMC genomics · 2024Article
- Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies.Orphanet journal of rare diseases · 2024Article
- Title-molecular diagnostics of dystrophinopathies in Sri Lanka towards phenotype predictions: an insight from a South Asian resource limited setting.European journal of medical research · 2024Article
Corrections and comments
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Authors and funding
7 authors at 7 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dystrophinopathies are X-linked diseases, including Duchenne muscular dystrophy and Becker muscular dystrophy, due to DMD gene variants. In recent years, the application of new genetic technologies and the availability of new personalised drugs have influenced diagnostic genetic testing for dystrophinopathies. Therefore, these European best practice guidelines for genetic testing in dystrophinopathies have been produced to update previous guidelines published in 2010.These guidelines summarise current recommended technologies and methodologies for analysis of the DMD gene, including testing for deletions and duplications of one or more exons, small variant detection and RNA analysis. Genetic testing strategies for diagnosis, carrier testing and prenatal diagnosis (including non-invasive prenatal diagnosis) are then outlined. Guidelines for sequence variant annotation and interpretation are provided, followed by recommendations for reporting results of all categories of testing. Finally, atypical findings (such as non-contiguous deletions and dual DMD variants), implications for personalised medicine and clinical trials and incidental findings (identification of DMD gene variants in patients where a clinical diagnosis of dystrophinopathy has not been considered or suspected) are discussed.
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