ArticleAnnals of clinical and translational neurology2020
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.
Article in Annals of clinical and translational neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed.
- Targeted long-read sequencing enables comprehensive analysis of the genetic and epigenetic landscape of inherited myopathies.Nature communications · 2026Article
- Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in Two Half-Siblings.Annals of clinical and translational neurology · 2026Article
- Detection of short tandem repeat expansions on a targeted neurological gene panel using STRipy improves the diagnostic rate for ataxias.Brain communications · 2026Article
- Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.Scientific reports · 2025Article
- Long-read sequencing for diagnosis of genetic myopathies.BMJ neurology open · 2025Review
- Nemaline Myopathy Type 6 Caused by Variants in theNeurology. Genetics · 2024Article
- Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards.Journal of neurology, neurosurgery, and psychiatry · 2024Review
- Loss-of-function variants inJournal of medical genetics · 2024Article
- Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders.Neurogenetics · 2024Article
- Two Novel Variants inNeurology. Genetics · 2024Article
- POLR3A-related disorders: From spastic ataxia to generalised dystonia and long-term efficacy of deep brain stimulation.Annals of clinical and translational neurology · 2024Article
- Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.Annals of clinical and translational 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
- Article
- Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.Journal of clinical medicine · 2022Article
- Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.Brain : a journal of neurology · 2022Article
- Novel Variants ofFrontiers in neurology · 2022Article
- Using gene panels in the diagnosis of neuromuscular disorders: A mini-review.Frontiers in neurology · 2022Review
- An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia.Muscle & nerve · 2022Article
- Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.Journal of medical genetics · 2021Article
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Authors and funding
20 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo develop, test, and iterate a comprehensive neuromuscular targeted gene panel in a national referral center.
methodsWe designed two iterations of a comprehensive targeted gene panel for neuromuscular disorders. Version 1 included 336 genes, which was increased to 464 genes in Version 2. Both panels used TargetSeq
resultsSix hundred and sixty-five patients received a genetic diagnosis (30%). Diagnosed patients were significantly younger that undiagnosed patients (26.4 and 32.5 years, respectively; P = 4.6326E-9). The diagnostic success varied markedly between disease categories. Pathogenic variants in 10 genes explained 38% of the disease burden. Unexpected phenotypic expansions were discovered in multiple cases. Triage of unsolved cases for research exome testing led to the discovery of six new disease genes.
interpretationA comprehensive targeted diagnostic panel was an effective method for neuromuscular disease diagnosis within the context of an Australasian referral center. Use of smaller disease-specific panels would have precluded diagnosis in many patients and increased cost. Analysis through a centralized laboratory facilitated detection of recurrent, but under-recognized pathogenic variants.
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