Functional pathogenicity of ESRRB variant of uncertain significance contributes to hearing loss (DFNB35)
Author:
Funder
National Research Foundation of Korea
SNUH Research Fund
Publisher
Springer Science and Business Media LLC
Link
https://www.nature.com/articles/s41598-024-70795-8.pdf
Reference52 articles.
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2. Bowl, M. R. et al. A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nat. Commun. 8, 886. https://doi.org/10.1038/s41467-017-00595-4 (2017).
3. Liao, E. N., Taketa, E., Mohamad, N. I. & Chan, D. K. Outcomes of gene panel testing for sensorineural hearing loss in a diverse patient cohort. JAMA Netw. Open 5, e2233441. https://doi.org/10.1001/jamanetworkopen.2022.33441 (2022).
4. Downie, L. et al. Exome sequencing in infants with congenital hearing impairment: A population-based cohort study. Eur. J. Hum. Genet. 28, 587–596. https://doi.org/10.1038/s41431-019-0553-8 (2020).
5. Gu, X. et al. Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations. Clin. Genet. 87, 588–593. https://doi.org/10.1111/cge.12431 (2015).
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