Variant Reclassification in Underrepresented Minority Children With Sensorineural Hearing Loss
This study demonstrates the utility of the application of HL-specific ACMG/AMP classification to specifically URM variants and the dramatic effects it can have on clarifying pathogenicity of VUSs, thus contributing to clinicians' ability to improve the standard of care for URM patients with improved genetic testing accuracy and subsequent early intervention.
Authors
- Noura Ismail Mohamad (ORCID: https://orcid.org/0000-0002-9672-6767)
- Yesai Park (ORCID: https://orcid.org/0000-0003-1707-1297)
- Sonia M. Scaria (ORCID: https://orcid.org/0000-0002-6163-9479)
- Jacqueline Harris (ORCID: https://orcid.org/0000-0001-8465-2142)
- Emily Taketa (ORCID: https://orcid.org/0000-0003-3299-0750)
- Dylan K. Chan (ORCID: https://orcid.org/0000-0003-0836-3730)
Institutions
- University of California, San Francisco (US)
Publication Details
- Journal
- Ear and Hearing
- Published
- 2025-03-12
- DOI
- https://doi.org/10.1097/aud.0000000000001653
- Primary Topic
- Hearing, Cochlea, Tinnitus, Genetics
- Type
- article
- Field-Weighted Citation Impact
- 0.00