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Genetics of Postlingual Sensorineural Hearing Loss.
Ahmadmehrabi S, Brant J, Epstein DJ, Ruckenstein MJ, Rader DJ. Ahmadmehrabi S, et al. Among authors: epstein dj. Laryngoscope. 2021 Feb;131(2):401-409. doi: 10.1002/lary.28646. Epub 2020 Apr 3. Laryngoscope. 2021. PMID: 32243624 Review.
Genome-first approach to rare EYA4 variants and cardio-auditory phenotypes in adults.
Ahmadmehrabi S, Li B, Park J, Devkota B, Vujkovic M, Ko YA, Van Wagoner D, Tang WHW, Krantz I, Ritchie M; Regeneron Genetics Center; Brant J, Ruckenstein MJ, Epstein DJ, Rader DJ. Ahmadmehrabi S, et al. Among authors: epstein dj. Hum Genet. 2021 Jun;140(6):957-967. doi: 10.1007/s00439-021-02263-6. Epub 2021 Mar 21. Hum Genet. 2021. PMID: 33745059
ESRP1 Mutations Cause Hearing Loss due to Defects in Alternative Splicing that Disrupt Cochlear Development.
Rohacek AM, Bebee TW, Tilton RK, Radens CM, McDermott-Roe C, Peart N, Kaur M, Zaykaner M, Cieply B, Musunuru K, Barash Y, Germiller JA, Krantz ID, Carstens RP, Epstein DJ. Rohacek AM, et al. Among authors: epstein dj. Dev Cell. 2017 Nov 6;43(3):318-331.e5. doi: 10.1016/j.devcel.2017.09.026. Epub 2017 Oct 26. Dev Cell. 2017. PMID: 29107558 Free PMC article.
Cochlear supporting cells require GAS2 for cytoskeletal architecture and hearing.
Chen T, Rohacek AM, Caporizzo M, Nankali A, Smits JJ, Oostrik J, Lanting CP, Kücük E, Gilissen C, van de Kamp JM, Pennings RJE, Rakowiecki SM, Kaestner KH, Ohlemiller KK, Oghalai JS, Kremer H, Prosser BL, Epstein DJ. Chen T, et al. Among authors: epstein dj. Dev Cell. 2021 May 17;56(10):1526-1540.e7. doi: 10.1016/j.devcel.2021.04.017. Epub 2021 May 7. Dev Cell. 2021. PMID: 33964205 Free PMC article.
104 results