ArticleFrontiers in genetics2022
Long-Read Sequencing Revealed Extragenic and Intragenic Duplications of Exons 56-61 in
Article in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 40 citations in OpenAlex.
- Recurrent nonsense p.Trp3416* variant in theJournal of neuromuscular diseases · 2026Article
- Evaluation and management of DMD gene copy number variations detected by prenatal SNP-array testing.BMC medical genomics · 2026Article
- Clinical diagnosis and genetic analysis of a rare case of Duchenne muscular dystrophy and spinal muscular atrophy.Molecular cytogenetics · 2026Article
- Genetic Analysis and Reproductive Intervention in a Duchenne Muscular Dystrophy Family With Cryptic Complex Chromosomal Rearrangement Identified by Structural Variation Sequencing.Human mutation · 2026Article
- 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
- Large familial chromosomal duplications without apparent disease phenotypes: how to deal with them in prenatal diagnosis?Pediatric research · 2025Article
- Incidental finding of aFrontiers in pediatrics · 2025Article
- The cryptic complex rearrangements involving the DMD gene: etiologic clues about phenotypical differences revealed by optical genome mapping.Human genomics · 2024Article
- Comprehensive analysis of 2097 patients with dystrophinopathy based on a database from 2011 to 2021.Orphanet journal of rare diseases · 2024Article
- Causative role of a novel intronic indel variant in FBN1 and maternal germinal mosaicism in Marfan syndrome.Orphanet journal of rare diseases · 2024Article
- Comprehensive analysis of genomic complexity in the 5' end coding region of the DMD gene in patients of exons 1-2 duplications based on long-read sequencing.BMC genomics · 2024Article
- Reclassification ofGenes · 2022Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Expanded carrier screening (ECS) has become an increasingly common technique to assess the genetic risks of individuals in the prenatal or preconception period. Unexpected variants unrelated to referral are being increasingly detected in asymptomatic individuals through ECS. In this study, we reported an asymptomatic male with duplication of exons 56-61 in the
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