Work

Optical Genome Mapping and Long‐Read Sequencing Identifies a Novel Dystrophin Gene Inversion in a Patient With Duchenne Muscular Dystrophy

Year: 2026

Type: article

Study design: Case Report

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.70133

Authors: Ryan Gallagher, Alexya Aguilera, Sara Acosta Villarreal, Alice Zalan, Jared Tomei, Dima Alghazzy, Samantha Scott, Nykula Slack, Andrea Matter, Ulrich Broeckel, Philip Giampietro

Institutions: Medical College of Wisconsin, University of Illinois Chicago

Language: English

Topic: Muscle Physiology and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: Children's Hospital of Wisconsin, National Institutes of Health

Award: G9000169037

OpenAlex ID: W7140107884

FWCI:

Cites: 8

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