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Page 1
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
Niturad CE, Lev D, Kalscheuer VM, Charzewska A, Schubert J, Lerman-Sagie T, Kroes HY, Oegema R, Traverso M, Specchio N, Lassota M, Chelly J, Bennett-Back O, Carmi N, Koffler-Brill T, Iacomino M, Trivisano M, Capovilla G, Striano P, Nawara M, Rzonca S, Fischer U, Bienek M, Jensen C, Hu H, Thiele H, Altmüller J, Krause R, May P, Becker F; EuroEPINOMICS Consortium; Balling R, Biskup S, Haas SA, Nürnberg P, van Gassen KLI, Lerche H, Zara F, Maljevic S, Leshinsky-Silver E. Niturad CE, et al. Among authors: koffler brill t. Brain. 2017 Nov 1;140(11):2879-2894. doi: 10.1093/brain/awx236. Brain. 2017. PMID: 29053855
Striatin Is Required for Hearing and Affects Inner Hair Cells and Ribbon Synapses.
Nadar-Ponniah PT, Taiber S, Caspi M, Koffler-Brill T, Dror AA, Siman-Tov R, Rubinstein M, Padmanabhan K, Luxenburg C, Lang RA, Avraham KB, Rosin-Arbesfeld R. Nadar-Ponniah PT, et al. Among authors: koffler brill t. Front Cell Dev Biol. 2020 Jul 15;8:615. doi: 10.3389/fcell.2020.00615. eCollection 2020. Front Cell Dev Biol. 2020. PMID: 32766247 Free PMC article.
The noncoding genome and hearing loss.
Avraham KB, Khalaily L, Noy Y, Kamal L, Koffler-Brill T, Taiber S. Avraham KB, et al. Among authors: koffler brill t. Hum Genet. 2022 Apr;141(3-4):323-333. doi: 10.1007/s00439-021-02359-z. Epub 2021 Sep 7. Hum Genet. 2022. PMID: 34491412 Review.