Hidden Splicing Variants in Inherited Retinal Degeneration: Discovery and Functional Insight
This study demonstrates the utility of a combined splicing variant detection platform in uncovering hidden pathogenic variants and improving IRD diagnostic yield. These findings have implications for refining genetic testing and guiding the development of splicing-targeted therapies.
Authors
- Chung‐May Yang (ORCID: https://orcid.org/0000-0003-4082-420X)
- Ta‐Ching Chen (ORCID: https://orcid.org/0000-0003-4358-6585)
- Chien‐Yu Lin (ORCID: https://orcid.org/0000-0002-6184-8852)
- Chang‐Hao Yang (ORCID: https://orcid.org/0000-0002-4328-8716)
- Po‐Hsiu Chien (ORCID: https://orcid.org/0000-0002-1607-1271)
- Pei-Lung Chen
- Yu‐Shu Huang (ORCID: https://orcid.org/0000-0002-4015-5942)
- Jacob Shujui Hsu (ORCID: https://orcid.org/0000-0001-7358-5343)
- Wenting Lu
- Yuan Chen (ORCID: https://orcid.org/0009-0003-2334-1713)
- Chao‐Wen Lin (ORCID: https://orcid.org/0000-0001-5766-3057)
- I-Hsuan Chiu
Institutions
- National Taiwan University (TW)
- National Taiwan University Hospital (TW)
Publication Details
- Journal
- Investigative Ophthalmology & Visual Science
- Published
- 2025-10-08
- DOI
- https://doi.org/10.1167/iovs.66.13.12
- Primary Topic
- RNA regulation and disease
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Taiwan University Hospital
- National Science and Technology Council