ArticleActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology2012
Next generation sequencing (NGS) strategies for the genetic testing of myopathies.
Article in Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' views.BMC medical genomics · 2016Pooled it
- Large phenotypic variability with severe respiratory involvement inJournal of neuromuscular diseases · 2026Article
- Navigating gastrointestinal challenges in genetic myopathies: Diagnostic insights and future directions.World journal of methodology · 2025Article
- A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B.International journal of molecular sciences · 2022Article
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- LGMD. Identification, description and classification.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2020Article
- The clinical, histologic, and genotypic spectrum ofNeurology · 2020Article
- The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.PloS one · 2020Article
- Whole exome sequencing identifies compound heterozygous variants ofSAGE open medicine · 2020Article
- Identification of gene mutations in patients with primary periodic paralysis using targeted next-generation sequencing.BMC neurology · 2019Article
- Clinical remission of myopathy with MYH2 deficiency after precision medicine-developed rehabilitation: a case report.American journal of translational research · 2018Article
- De Novo Paternal FBN1 Mutation Detected in Embryos Before Implantation.Medical science monitor : international medical journal of experimental and clinical research · 2017Article
- The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.Neurology · 2016Article
- Identification of PKD2 mutations in human preimplantation embryos in vitro using a combination of targeted next-generation sequencing and targeted haplotyping.Scientific reports · 2016Article
- First Identification of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy.Journal of clinical neurology (Seoul, Korea) · 2016Article
- Emery-Dreifuss muscular dystrophy: a test case for precision medicine.The application of clinical genetics · 2016Review
- Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil.Journal of community genetics · 2015Article
- Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.Neuromuscular disorders : NMD · 2015Article
- Article
- MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.Acta neuropathologica communications · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Next generation sequencing (NGS) technologies offer the possibility to map entire genomes at affordable costs. This brings the genetic testing procedure to a higher level of complexity. The positive aspect is the ease to cope with the complex diagnosis of genetically heterogeneous disorders and to identify novel disease genes. Worries arise from the management of too many DNA variations with unpredictable meaning and incidental findings that can cause ethical and clinical dilemmas. The technology of enrichment makes possible to focus the sequencing to the exome or to a more specific DNA target. This is being used to provide insights into the genetics underlying Mendelian traits involved in myopathies and to set up cost-effective diagnostic tests. This huge potential of the NGS applications makes likely that these will soon become the first approach in genetic diagnostic laboratories.
Indexed as
Identifiers
23620651PMC3631804W1505580350What 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.