Unveiling non-coding <i>DMD</i> variants: synergising RNA sequencing and DNA sequencing for enhanced molecular diagnosis
Our data demonstrated RNAseq is a powerful tool to provide functional data for <i>DMD</i> splice aberration events, especially when integrating with immunohistochemical testing and DNA sequencing, for elucidating the pathogenicity of <i>DMD</i> variants and achieving a precise genetic diagnosis in patients with DMD/BMD clinical presentation but without definitive diagnoses after routine genetic testing.
Authors
- Kathleen G. Banks
- Abhinav Mathur (ORCID: https://orcid.org/0000-0001-5669-9488)
- Yinghong Pan (ORCID: https://orcid.org/0000-0001-7334-1787)
- Daniel Lesperance
- Madhuri Hegde (ORCID: https://orcid.org/0000-0002-4500-0368)
- Naga Guruju
- Rolando García (ORCID: https://orcid.org/0000-0002-6762-5633)
- Ann Martin (ORCID: https://orcid.org/0000-0002-7763-797X)
- Babi Ramesh Reddy Nallamilli (ORCID: https://orcid.org/0000-0002-0936-034X)
- Fen Guo (ORCID: https://orcid.org/0000-0002-6238-7111)
- Zeqiang Ma (ORCID: https://orcid.org/0000-0002-3527-3573)
- Ruby Liu (ORCID: https://orcid.org/0000-0003-3449-3862)
Institutions
- University of Pittsburgh (US)
- Southwestern Medical Center (US)
- Magee-Womens Hospital (US)
- Parent Project Muscular Dystrophy (US)
- Annual Reviews (US)
- Southwestern Medical Center (US)
- The University of Texas Southwestern Medical Center (US)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2024-12-11
- DOI
- https://doi.org/10.1136/jmg-2024-110152
- Citations
- 3
- Primary Topic
- Molecular Biology Techniques and Applications
- Type
- article
- Field-Weighted Citation Impact
- 0.70