ArticleAnnals of clinical and translational neurology2016
RNAseq analysis for the diagnosis of muscular dystrophy.
Article in Annals of clinical and translational neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03829176 (Investigating the Feasibility and Implementation of Whole Genome Sequencing in Patients With Suspected Genetic Disorder), which is not on this map. Cited by 49 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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.
Investigating the Feasibility and Implementation of Whole Genome Sequencing in Patients With Suspected Genetic Disorder
Who cites it
49 citing papers in PubMed.
- Poly(A)+ selection limits detection of long and alternatively spliced transcripts compared with rRNA depletion in RNA-Sequencing.BMC genomics · 2026Article
- Total RNA-seq as a Tool to Study DMD Splicing and Transcriptional Dynamics.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Integrative Transcriptomic and Network-Based Analysis of Neuromuscular Diseases.International journal of molecular sciences · 2025Article
- Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.NPJ genomic medicine · 2025Article
- RNA Mis-Splicing Effects of Noncanonical Splicing Variants in Limb-Girdle Muscular Dystrophy Type R1/2A.Neurology. Genetics · 2025Article
- Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases.BMC medical genomics · 2024Article
- RNA Sequencing in Disease Diagnosis.Annual review of genomics and human genetics · 2024Review
- Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions.Communications biology · 2024Article
- Whole-Genome Sequencing Identified New Structural Variations in theInternational journal of molecular sciences · 2023Article
- Identification and characterization of two DMD pedigrees with large inversion mutations based on a long-read sequencing pipeline.European journal of human genetics : EJHG · 2023Article
- Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.Human mutation · 2022Article
- Using gene panels in the diagnosis of neuromuscular disorders: A mini-review.Frontiers in neurology · 2022Review
- A Hybrid Protocol for Finding Novel Gene Targets for Various Diseases Using Microarray Expression Data Analysis and Text Mining.Methods in molecular biology (Clifton, N.J.) · 2022Article
- Heterogeneous Skeletal Muscle Cell and Nucleus Populations Identified by Single-Cell and Single-Nucleus Resolution Transcriptome Assays.Frontiers in genetics · 2022Review
- Phenotype-tissue expression and exploration (PTEE) resource facilitates the choice of tissue for RNA-seq-based clinical genetics studies.BMC genomics · 2021Article
- Multiomic Approaches to Uncover the Complexities of Dystrophin-Associated Cardiomyopathy.International journal of molecular sciences · 2021Review
- Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia.Nature communications · 2021Article
- Patient derived stem cells for discovery and validation of novel pathogenic variants in inherited retinal disease.Progress in retinal and eye research · 2021Review
- Candidate gene expression and coding sequence variants in Warmblood horses with myofibrillar myopathy.Equine veterinary journal · 2021Article
- Detection of aberrant gene expression events in RNA sequencing data.Nature protocols · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The precise genetic cause remains elusive in nearly 50% of patients with presumed neurogenetic disease, representing a significant barrier for clinical care. This is despite significant advances in clinical genetic diagnostics, including the application of whole-exome sequencing and next-generation sequencing-based gene panels. In this study, we identify a deep intronic mutation in the DMD gene in a patient with muscular dystrophy using both conventional and RNAseq-based transcriptome analyses. The implications of our data are that noncoding mutations likely comprise an important source of unresolved genetic disease and that RNAseq is a powerful platform for detecting such mutations.
Identifiers
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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.