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

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Bibliographic Details
Title: Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: High prevalence of nontandem duplications revealed by long-read sequencing.
Authors: Ding Q; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN. Electronic address: ding.qiliang@mayo.edu., Balan J; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN., Vidal-Folch N; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Pickart AM; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Sun G; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN., Walsh JR; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN., Majumdar R; Advanced Diagnostics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Klee EW; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN; Center for Individualized Medicine, Mayo Clinic, Rochester, MN; Department of Clinical Genomics, Mayo Clinic, Rochester, MN., Murphy SJ; Advanced Diagnostics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Oglesbee D; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Rowsey RA; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Hasadsri L; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN. Electronic address: hasadsri.linda@mayo.edu.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Oct; Vol. 27 (10), pp. 101539. Date of Electronic Publication: 2025 Aug 05.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1530-0366
DOI:10.1016/j.gim.2025.101539