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Current Protocols|January 17, 2023
Testing for Facioscapulohumeral Muscular Dystrophy with Optical Genome MappingPratik Koppikar, Suresh Shenoy, Naga Guruju, et al.Current Protocols|February 7, 2023
Molecular Diagnosis of Duchenne Muscular Dystrophy Using Single NGS-Based AssayBabi Ramesh Reddy Nallamilli, Naga Guruju, Vanessa Jump, et al.Journal of Medical Genetics|December 11, 2024
Unveiling non-coding <i>DMD</i> variants: synergising RNA sequencing and DNA sequencing for enhanced molecular diagnosisYinghong Pan, Babi Ramesh Reddy Nallamilli, Ruby Liu, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 15, 2023
Evidence from 2100 index cases supports genome sequencing as a first-tier genetic testFen Guo, Ruby Liu, Yinghong Pan, et al.JAMA Network Open|July 31, 2023
At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and ChildrenJorune Balciuniene, Ruby Liu, Lora Bean, et al.Pageof 1