Karen B. Avraham
Affiliations: | Tel Aviv University, Tel Aviv-Yafo, Tel Aviv District, Israel |
Area:
genetics, hearing lossGoogle:
"Karen Avraham"Mean distance: 106866
Cross-listing: CSD Tree
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Publications
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| Hahn R, Avraham KB. (2023) Gene Therapy for Inherited Hearing Loss: Updates and Remaining Challenges. Audiology Research. 13: 952-966 |
| Drabkin M, Jean MM, Noy Y, et al. (2023) mutation causes human otosclerosis and a similar phenotype in mice. Journal of Medical Genetics |
| Frohne A, Koenighofer M, Cetin H, et al. (2022) A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation. Human Genetics |
| Taiber S, Gwilliam K, Hertzano R, et al. (2022) The Genomics of Auditory Function and Disease. Annual Review of Genomics and Human Genetics |
| Pater JA, Penney C, O'Rielly DD, et al. (2022) Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene. Human Genetics |
| Hirsch Y, Tangshewinsirikul C, Booth KT, et al. (2021) A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing. European Journal of Human Genetics : Ejhg |
| Taiber S, Cohen R, Yizhar-Barnea O, et al. (2020) Neonatal AAV gene therapy rescues hearing in a mouse model of SYNE4 deafness. Embo Molecular Medicine. e13259 |
| Brownstein Z, Gulsuner S, Walsh T, et al. (2020) Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1. Clinical Genetics. 98: 353-364 |
| Danial-Farran N, Chervinsky E, Nadar-Ponniah PT, et al. (2020) Homozygote loss-of-function variants in the human COCH gene underlie hearing loss. European Journal of Human Genetics |
| Nadar-Ponniah PT, Taiber S, Caspi M, et al. (2020) Striatin Is Required for Hearing and Affects Inner Hair Cells and Ribbon Synapses. Frontiers in Cell and Developmental Biology. 8: 615 |