Karen B. Avraham
Tel Aviv University
H-index: 63
Asia-Israel
Top articles of Karen B. Avraham
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice | Journal of medical genetics | Max Drabkin Matan M Jean Yael Noy Daniel Halperin Yuval Yogev | 2024/2/1 |
Using multi-scale genomics to associate poorly annotated genes with rare diseases | Genome Medicine | Christina Canavati Dana Sherill-Rofe Lara Kamal Idit Bloch Fouad Zahdeh | 2024/1/4 |
A paradoxical genotype-phenotype relationship: Low level of GOSR2 translation from a non-AUG start codon in a family with profound hearing loss | Human Molecular Genetics | Amal Aburayyan Ryan J Carlson Grace N Rabie Ming K Lee Suleyman Gulsuner | 2023/7/15 |
Repair of noise-induced damage to stereocilia F-actin cores is facilitated by XIRP2 and its novel mechanosensor domain | Elife | Elizabeth L Wagner Jun-Sub Im Stefano Sala Maura I Nakahata Terence E Imbery | 2023/6/9 |
Bats experience age-related hearing loss (presbycusis) | Life Science Alliance | Yifat Chaya Tarnovsky Shahar Taiber Yomiran Nissan Arjan Boonman Yaniv Assaf | 2023/6/1 |
Shared and organ-specific gene-expression programs during the development of the cochlea and the superior olivary complex | RNA biology | Mor Bordeynik-Cohen Michal Sperber Lena Ebbers Naama Messika-Gold Constanze Krohs | 2023/12/31 |
Gene Therapy for Inherited Hearing Loss: Updates and Remaining Challenges | Roni Hahn Karen B Avraham | 2023/12/4 | |
A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation | Human Genetics | Alexandra Frohne Martin Koenighofer Hakan Cetin Michael Nieratschker David T Liu | 2023/8 |
The genomics of auditory function and disease | Shahar Taiber Kathleen Gwilliam Ronna Hertzano Karen B Avraham | 2022/8/31 | |
Emerging complexities of the mouse as a model for human hearing loss | Proceedings of the National Academy of Sciences | Ryan J Carlson Karen B Avraham | 2022/8/30 |
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid … | Human Genetics | Justin A Pater Cindy Penney Darren D O’Rielly Anne Griffin Lara Kamal | 2022/4 |
The noncoding genome and hearing loss | Karen B Avraham Lama Khalaily Yael Noy Lara Kamal Tal Koffler-Brill | 2022/4 | |
A nesprin-4/kinesin-1 cargo model for nuclear positioning in cochlear outer hair cells | Frontiers in Cell and Developmental Biology | Shahar Taiber Oren Gozlan Roie Cohen Leonardo R Andrade Ellen F Gregory | 2022/9/23 |
PNPT1, MYO15A, PTPRQ, and SLC12A2‐associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India | Annals of Human Genetics | Paridhy Vanniya. S Jayasankaran Chandru Justin Margret Jeffrey Tom Rabinowitz Zippora Brownstein | 2022/1 |
Molecular Features of SLC26A4 Common Variant p. L117F | Journal of Clinical Medicine | Arnoldas Matulevičius Emanuele Bernardinelli Zippora Brownstein Sebastian Roesch Karen B Avraham | 2022/9/22 |
Genetic and phenotypic heterogeneity in PNPT1, MYO15A, PTPRQ and SLC12A2 variants detected among hearing impaired assortative mating families in … | bioRxiv | Paridhy Vanniya. S Jayasankaran Chandru Justin Margret Jeffrey Tom Rabinowitz Zippora Brownstein | 2021/4/6 |
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss | Genetics in medicine | Mayher J Patel Marina T DiStefano Andrea M Oza Madeline Y Hughes Emma H Wilcox | 2021/11 |
Homozygote loss-of-function variants in the human COCH gene underlie hearing loss | European Journal of Human Genetics | Nada Danial-Farran Elena Chervinsky Prathamesh T Nadar-Ponniah Eran Cohen Barak Shahar Taiber | 2021/2 |
Genetic Heterogeneity and Core Clinical Features of NOG-Related-Symphalangism Spectrum Disorder | Otology & Neurotology | Ryan J Carlson Alicia Quesnel Dawson Wells Zippora Brownstein Dror Gilony | 2021/9/1 |
ADVANCES IN GENE THERAPY | Advances in Gene Therapy | Himanshu Garg Anjali Joshi Jin-A Lee Amy P Wong Daniel P Hart | 2022 |
Co-Authors
