Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Reclassification of DMD Duplications as Benign: Recommendations for Cautious Interpretation of Variants Identified in Prenatal Screening

28 Oct 2022

Abstract excerpt

Duplications are the main type of dystrophin gene (DMD) variants, which typically cause dystrophinopathies such as Duchenne muscular dystrophy and Becker muscular dystrophy. Maternally inherited exon duplication in DMD in fetuses is a relatively common finding of genetic screening in clinical practice. However, there is no standard strategy for interpretation of the pathogenicity of DMD duplications during...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Muscle Physiology and Disorders
Share to Neurogenetic and Muscular Disorders Research
Share to RNA modifications and cancer

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 36360209
DOI: 10.3390/genes13111972

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Reclassification of DMD Duplications as Benign: Recommendations for Cautious Interpretation of Variants Identified in Prenatal ScreeningPMID 36360209Read ↗

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 sequencingSemantic proximity Read ↗

An approach to rapid characterization of DMD copy number variants for prenatal risk assessment.Semantic proximity Read ↗

Rethinking the pathogenicity of intragenic<i>DMD</i>duplications detected by carrier screening: high prevalence of non-tandem duplications revealed by long-read sequencingSemantic proximity Read ↗

High-resolution mapping of <i>DMD</i> duplications using long-read sequencing enables precise carrier screening for Duchenne muscular dystrophySemantic proximity Read ↗

Long-Read Sequencing Revealed Extragenic and Intragenic Duplications of Exons 56–61 in DMD in an Asymptomatic Male and a DMD PatientSemantic proximity Read ↗

EMQN best practice guidelines for genetic testing in dystrophinopathiesSemantic proximity Read ↗

Integrated Genotyping Strategies Uncovering Detailed Haplotype Structures and Characterization of DMD duplicationsSemantic proximity Read ↗

Phenotype predictions for exon deletions/duplications: A user guide for professionals and clinicians using Becker and Duchenne muscular dystrophy as examplesSemantic proximity Read ↗

The cryptic complex rearrangements involving the DMD gene: etiologic clues about phenotypical differences revealed by optical genome mapping.Semantic proximity Read ↗

Evaluation and management of DMD gene copy number variations detected by prenatal SNP-array testing.Semantic proximity Read ↗

Integrated Genotyping Strategies for Uncovering Detailed Haplotype Structures and Characterization of DMD Duplications.Semantic proximity Read ↗

Genomic insights into Duchene muscular dystrophy: Analysis of 1250 patients reveals 30% novel genetic patterns and 6 novel variantsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.