Outcomes of genetic testing for Usher syndrome in a diverse population cohort from South Florida
This is the first genetic characterization of an ethnically diverse South Florida population with USH, which can help direct patient diagnosis and medical care. As clinical trials for treatment increases, molecular testing in all individuals is imperative.
Authors
- Ryan Chen
- Byron L. Lam (ORCID: https://orcid.org/0000-0002-1233-2366)
- Denise Yan (ORCID: https://orcid.org/0000-0002-9074-4817)
- Tamara Juvier Riesgo (ORCID: https://orcid.org/0000-0002-5954-7233)
- Susan H. Blanton (ORCID: https://orcid.org/0000-0002-5433-3439)
- Zachary J. Cromar (ORCID: https://orcid.org/0000-0001-7036-3585)
- Louisa Verma (ORCID: https://orcid.org/0000-0003-2956-251X)
- Zheng‐Yi Chen (ORCID: https://orcid.org/0000-0002-1452-4193)
- Xue Zhong Liu (ORCID: https://orcid.org/0000-0002-4758-6470)
Institutions
- Massachusetts Eye and Ear Infirmary (US)
- University of Miami (US)
- Dr. John T. Macdonald Foundation (US)
Publication Details
- Journal
- Human Genomics
- Published
- 2025-06-18
- DOI
- https://doi.org/10.1186/s40246-025-00775-0
- Citations
- 1
- Primary Topic
- Hearing, Cochlea, Tinnitus, Genetics
- Type
- article
- Field-Weighted Citation Impact
- 1.46
Funders
- University of Miami
- National Institutes of Health
- National Institute on Deafness and Other Communication Disorders