Last Updated: 09/26/2026
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Found 6 publications
Unveiling non-coding DMD variants: synergising RNA sequencing and DNA sequencing for enhanced molecular diagnosis.
Journal: Journal of medical genetics
Published: May 29, 2024
At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children.
Journal: JAMA network open
Published: July 31, 2023
Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping.
Journal: Neurology. Genetics
Published: May 19, 2023
Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 16, 2023
Molecular Diagnosis of Duchenne Muscular Dystrophy Using Single NGS-Based Assay.
Journal: Current protocols
Published: February 07, 2023
Testing for Facioscapulohumeral Muscular Dystrophy with Optical Genome Mapping.
Journal: Current protocols
Published: January 17, 2023
Showing 1-6 of 6
Last Updated: 09/26/2026