Identification of known and novel genetic variants in sensorineural hearing loss: insights from whole exome sequencing in Indian families
The identification of novel and previously reported variants in familial cases underscores the importance of WES in genetic analysis of HL. These findings enhance our understanding of the genetic landscape of HL and could have implications for the diagnosis and genetic counselling of affected families.
Authors
- Susan Cherian
- Nalini Bhat (ORCID: https://orcid.org/0000-0001-9595-0671)
- Suresh Shettigar (ORCID: https://orcid.org/0000-0003-0792-6335)
- Harshada Tawade
- Asim K. Ghosh (ORCID: https://orcid.org/0000-0003-4528-8602)
- Kurva Jagannath
Institutions
- Bhabha Atomic Research Centre (IN)
- Homi Bhabha National Institute (IN)
- Bhabha Atomic Research Center Hospital (IN)
Publication Details
- Journal
- Molecular Biology Reports
- Published
- 2025-09-10
- DOI
- https://doi.org/10.1007/s11033-025-10996-0
- Primary Topic
- Hearing, Cochlea, Tinnitus, Genetics
- Type
- article
- Field-Weighted Citation Impact
- 0.00