ArticleEuropean journal of neurology2020
Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approach.
Article in European journal of neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders.Journal of neuromuscular diseases · 2026Article
- Analysis of diagnostic pitfalls in 125 genetically confirmed cases of distal myopathies.Journal of neuromuscular diseases · 2026Article
- Article
- Bilateral foot drop as presenting feature of facioscapulohumeral muscular dystrophy type 1.eNeurologicalSci · 2025Article
- Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders.Neurogenetics · 2024Article
- The expanding diagnostic toolbox for rare genetic diseases.Nature reviews. Genetics · 2024Review
- Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.Journal of neurology · 2024Article
- Utility of exome sequencing for the diagnosis of pediatric-onset neuromuscular diseases beyond diagnostic yield: a narrative review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Review
- Exploring TTN variants as genetic insights into cardiomyopathy pathogenesis and potential emerging clues to molecular mechanisms in cardiomyopathies.Scientific reports · 2024Review
- Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.HGG advances · 2022Article
- How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.Journal of inherited metabolic disease · 2022Review
- Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.European journal of neurology · 2022Article
- Using gene panels in the diagnosis of neuromuscular disorders: A mini-review.Frontiers in neurology · 2022Review
- Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
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13 authors.
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Abstract
background and purposeNext-generation sequencing has greatly improved the diagnostic success rates for genetic neuromuscular disorders (NMDs). Nevertheless, most patients still remain undiagnosed, and there is a need to maximize the diagnostic yield.
methodsA retrospective study was conducted on 72 patients with NMDs who underwent exome sequencing (ES), partly followed by genotype-guided diagnostic reassessment and secondary investigations. The diagnostic yields that would have been achieved by appropriately chosen narrow and comprehensive gene panels were also analysed.
resultsThe initial diagnostic yield of ES was 30.6% (n = 22/72 patients). In an additional 15.3% of patients (n = 11/72) ES results were of unknown clinical significance. After genotype-guided diagnostic reassessment and complementary investigations, the yield was increased to 37.5% (n = 27/72). Compared to ES, targeted gene panels (<25 kilobases) reached a diagnostic yield of 22.2% (n = 16/72), whereas comprehensive gene panels achieved 34.7% (n = 25/72).
conclusionExome sequencing allows the detection of pathogenic variants missed by (narrowly) targeted gene panel approaches. Diagnostic reassessment after genetic testing further enhances the diagnostic outcomes for NMDs.
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