ArticleAnnals of clinical and translational neurology2022
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy.
Article in Annals of clinical and translational neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 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.
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Who cites it
23 citing papers in PubMed, 39 citations in OpenAlex.
- Long-read sequencing for neurological disorders: opportunities, challenges, and future directions.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Review
- Genetic Analysis and Reproductive Intervention in a Duchenne Muscular Dystrophy Family With Cryptic Complex Chromosomal Rearrangement Identified by Structural Variation Sequencing.Human mutation · 2026Article
- Optical genome mapping identifies a balanced inversion disrupting DMD in a patient with Duchenne muscular dystrophy.Molecular cytogenetics · 2025Article
- GREGoR: accelerating genomics for rare diseases.Nature · 2025Article
- First Identification of CGG-Repeat Expansions inJournal of clinical neurology (Seoul, Korea) · 2025Article
- Long read whole genome sequencing-based discovery of structural variants and their role in aetiology of non-syndromic autism spectrum disorder in India.BMC medical genomics · 2025Article
- Application of long-read sequencing in the diagnosis of Duchenne/Becker muscular dystrophy: unveiling complex structural variations and deep intronic mutations.Italian journal of pediatrics · 2025Article
- The additional diagnostic yield of long-read sequencing in undiagnosed rare diseases.Genome research · 2025Review
- Long-read sequencing for diagnosis of genetic myopathies.BMJ neurology open · 2025Review
- GREGoR: Accelerating Genomics for Rare Diseases.ArXiv · 2024Article
- Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases.Orphanet journal of rare diseases · 2024Review
- Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome.Neurology. Clinical practice · 2024Article
- Comprehensive genetic analysis of facioscapulohumeral muscular dystrophy by Nanopore long-read whole-genome sequencing.Journal of translational medicine · 2024Article
- Review
- Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.Annals of clinical and translational neurology · 2024Article
- Long read sequencing on its way to the routine diagnostics of genetic diseases.Frontiers in genetics · 2024Review
- Article
- Genetic Patterns of Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network.Neurology. Genetics · 2023Article
- Applications of long-read sequencing to Mendelian genetics.Genome medicine · 2023Review
- Transcriptome and Genome Analysis Uncovers aNeurology. Genetics · 2023Article
Corrections and comments
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Authors and funding
24 authors at 6 institutions in 3 countries.
Funding
Abstract
Many individuals with muscular dystrophies remain genetically undiagnosed despite clinical diagnostic testing, including exome sequencing. Some may harbor previously undetected structural variants (SVs) or cryptic splice sites. We enrolled 10 unrelated families: nine had muscular dystrophy but lacked complete genetic diagnoses and one had an asymptomatic DMD duplication. Nanopore genomic long-read sequencing identified previously undetected pathogenic variants in four individuals: an SV in DMD, an SV in LAMA2, and two single nucleotide variants in DMD that alter splicing. The DMD duplication in the asymptomatic individual was in tandem. Nanopore sequencing may help streamline genetic diagnostic approaches for muscular dystrophy.
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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.