Work

Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: High prevalence of nontandem duplications revealed by long-read sequencing

Year: 2025

Type: article

Study design: Observational Study

Source: Genetics in Medicine

DOI: 10.1016/j.gim.2025.101539

Authors: Qiliang Ding, Jagadheshwar Balan, Noemi Vidal-Folch, Angela M. Pickart, Guangchao Sun, Jesse R. Walsh, Ramanath Majumdar, Eric W. Klee, Stephen J. Murphy, Devin Oglesbee, Ross A. Rowsey, Linda Hasadsri

Institution: Mayo Clinic

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, Mayo Clinic, Mayo Foundation for Medical Education and Research

OpenAlex ID: W4412957595

FWCI: 2.138

Cites: 19

Cited by: 5

Related to: 10