Biallelic Loss-of-Function Variants in <i>UBAP1L</i> and Nonsyndromic Retinal Dystrophies
Study results reveal clinical and genetic evidence that loss of UBAP1L function was associated with inherited retinopathy in humans. These findings hold promise for improved clinical diagnostics, prognosis, and the potential development of targeted therapies for individuals affected by IRDs.
Authors
- Samantha Malka (ORCID: https://orcid.org/0000-0003-0020-4049)
- Ehsan Ullah (ORCID: https://orcid.org/0000-0003-0107-6608)
- Catherine A. Cukras (ORCID: https://orcid.org/0000-0002-1147-854X)
- Aime Agather
- Siying Lin (ORCID: https://orcid.org/0000-0003-1122-8396)
- Laryssa A. Huryn (ORCID: https://orcid.org/0000-0002-0309-9419)
- Bin Guan (ORCID: https://orcid.org/0000-0001-5986-5189)
- Chelsea Bender
- Savita Madhusudhan (ORCID: https://orcid.org/0000-0002-8203-0929)
- Gavin Arno (ORCID: https://orcid.org/0000-0002-6165-7888)
- Andrew R. Webster (ORCID: https://orcid.org/0000-0001-6915-9560)
- Robert B. Hufnagel (ORCID: https://orcid.org/0000-0003-3015-3545)
- Denise Williams
- Jiaxiong Lu
- E. Douglas Rees
- Rui Chen (ORCID: https://orcid.org/0000-0002-0696-3313)
Institutions
- National Institutes of Health (US)
- Kaiser Permanente (US)
- University of Liverpool (GB)
- Baylor College of Medicine (US)
- Aintree University Hospitals NHS Foundation Trust (GB)
- National Eye Institute (US)
- Greenwood Genetic Center (US)
- Moorfields Eye Hospital (GB)
- Birmingham Women’s and Children’s NHS Foundation Trust (GB)
- Hawaii Permanente Medical Group (US)
- Baylor Genetics (US)
- University College London (GB)
Publication Details
- Journal
- JAMA Ophthalmology
- Published
- 2024-09-26
- DOI
- https://doi.org/10.1001/jamaophthalmol.2024.3836
- Citations
- 2
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.47