Genome-first approach to rare EYA4 variants and cardio-auditory phenotypes in adults
Author:
Funder
Sarnoff Cardiovascular Research Foundation
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
https://link.springer.com/content/pdf/10.1007/s00439-021-02263-6.pdf
Reference47 articles.
1. Abe S, Takeda H, Nishio S-Y, Usami S-I (2018) Sensorineural hearing loss and mild cardiac phenotype caused by an EYA4 mutation. Hum Genome Var 5:23. https://doi.org/10.1038/s41439-018-0023-9
2. Ahmadmehrabi S, Brant J, Epstein DJ et al (2020) Genetics of postlingual sensorineural hearing loss. Laryngoscope. https://doi.org/10.1002/lary.28646
3. Arnous S, Syrris P, Sen-Chowdhry S, McKenna WJ (2010) Genetics of dilated cardiomyopathy: risk of conduction defects and sudden cardiac death. Card Electrophysiol Clin 2:599–609. https://doi.org/10.1016/j.ccep.2010.09.008
4. Azaiez H, Booth KT, Ephraim SS et al (2018) Genomic landscape and mutational signatures of deafness-associated genes. Am J Hum Genet 103:484–497. https://doi.org/10.1016/j.ajhg.2018.08.006
5. Borsani G, DeGrandi A, Ballabio A et al (1999) EYA4, a novel vertebrate gene related to drosophila eyes absent. Hum Mol Genet 8:11–23. https://doi.org/10.1093/hmg/8.1.11
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