AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss
Author:
Funder
National Institute on Deafness and Other Communication Disorders
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://link.springer.com/content/pdf/10.1007/s00439-021-02424-7.pdf
Reference80 articles.
1. Agrawal Y, Platz E, Niparko J (2008) Prevalence of hearing loss and differences by demographic characteristics among US adults: data from the national health and nutrition examination survey, 1999–2004. Arch Intern Med 168(14):1522. https://doi.org/10.1001/archinte.168.14.1522
2. Akil O (2020) Dual and triple AAV delivery of large therapeutic gene sequences into the inner ear. Hear Res 394:107912. https://doi.org/10.1016/j.heares.2020.107912
3. Angeli S, Lin X, Liu XZ (2012) Genetics of hearing and deafness. Anat Rec Adv Integr Anat Evol Biol 295(11):1812–1829. https://doi.org/10.1002/ar.22579
4. Azaiez H et al (2018) Genomic landscape and mutational signatures of deafness-associated genes. Am J Hum Genet 103(4):484–497. https://doi.org/10.1016/j.ajhg.2018.08.006
5. Bai X et al (2014) Identification of a novel missense mutation in the WFS1 gene as a cause of autosomal dominant nonsyndromic sensorineural hearing loss in all-frequencies. Am J Med Genet Part A 164(12):3052–3060. https://doi.org/10.1002/ajmg.a.36760
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