Article

Utilisation of Exome Sequencing for Muscular Disorders in Thai Paediatric Patients: Diagnostic Yield and Mutational Spectrum

2022-09-29

Abstract excerpt

Muscular dystrophies and congenital myopathies are heterogeneous groups of inherited muscular disorders. An accurate diagnosis is challenging due to their complex clinical presentations and genetic heterogeneity. This study aimed to determine the utilization of whole exome sequencing (ES) for Thai paediatric patients with muscular disorders. Of 176 paediatric patients suspected of genetic/inherited myopathies, 133...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 6365e380-4fed-5033-ad63-f68cd21f568a
DOI: 10.21203/rs.3.rs-2024714/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Utilisation of Exome Sequencing for Muscular Disorders in Thai Paediatric Patients: Diagnostic Yield and Mutational SpectrumDOI 10.21203/rs.3.rs-2024714/v1Read

Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum.Semantic proximity Read

Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.Semantic proximity Read

Skipping the Biopsy: Real-World Experience of Whole-Exome Sequencing as First-Tier Testing in Pediatric Muscular Disorders.Semantic proximity Read

Neuromuscular Disorders in Children Through the Lens of Next-Generation Sequencing: A Study of Diagnostic Yield.Semantic proximity Read

Skipping the Biopsy: Real-World Experience of Whole-Exome Sequencing as First-Tier Testing in Pediatric Muscular DisordersSemantic proximity Read

Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methodsSemantic proximity Read

Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular ClinicSemantic proximity Read

Neuromuscular Disorders in Children through the Lens of Next Generation Sequencing: A Study of Diagnostic YieldSemantic proximity Read

Congenital muscle dystrophies: Role of singleton whole exome sequencing in countries with limited resources.Semantic proximity Read

High diagnostic yield of targeted next-generation sequencing panel as a first-tier molecular test for the patients with myopathy or muscular dystrophy.Semantic proximity Read

Next-generation sequencing approaches for the diagnosis of skeletal muscle disordersSemantic proximity Read

Challenges and Advances in Molecular Diagnosis of Myopathies and Dystrophies in Perspective of Their Use in Developing Countries: Past, Present, and Future.Semantic proximity Read