Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases M Hanany, C Rivolta, D Sharon Proceedings of the National Academy of Sciences 117 (5), 2710-2716, 2020 | 227 | 2020 |
Inherited retinal diseases: linking genes, disease-causing variants, and relevant therapeutic modalities N Schneider, Y Sundaresan, P Gopalakrishnan, A Beryozkin, M Hanany, ... Progress in retinal and eye research 89, 101029, 2022 | 74 | 2022 |
Identification of genomic deletions causing inherited retinal degenerations by coverage analysis of whole exome sequencing data S Khateb, M Hanany, A Khalaileh, A Beryozkin, S Meyer, A Abu-Diab, ... Journal of medical genetics 53 (9), 600-607, 2016 | 35 | 2016 |
Allele frequency analysis of variants reported to cause autosomal dominant inherited retinal diseases question the involvement of 19% of genes and 10% of reported pathogenic … M Hanany, D Sharon Journal of Medical Genetics 56 (8), 536-542, 2019 | 21 | 2019 |
Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations A Beryozkin, S Khateb, CA Idrobo-Robalino, MI Khan, FPM Cremers, ... Scientific reports 10 (1), 15156, 2020 | 15 | 2020 |
Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population M Hanany, G Allon, A Kimchi, A Blumenfeld, H Newman, E Pras, ... European Journal of Human Genetics 26 (8), 1159-1166, 2018 | 13 | 2018 |
SENIOR–LØKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis C Yahalom, O Volovelsky, M Macarov, A Altalbishi, Y Alsweiti, ... Retina 41 (10), 2179-2187, 2021 | 9 | 2021 |
Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily T Millo, A Rivera, A Obolensky, D Marks-Ohana, M Xu, Y Li, E Wilhelm, ... Genetics in Medicine 24 (7), 1523-1535, 2022 | 7 | 2022 |
Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children N Levinger, K Hendler, E Banin, M Hanany, A Kimchi, H Mechoulam, ... European Journal of Ophthalmology 31 (6), 3349-3354, 2021 | 4 | 2021 |
An in-depth single-gene worldwide carrier frequency and genetic prevalence analysis of CYP4V2 as the cause of Bietti crystalline dystrophy M Hanany, RR Yang, CM Lam, A Beryozkin, Y Sundaresan, D Sharon Translational Vision Science & Technology 12 (2), 27-27, 2023 | 2 | 2023 |
Comparison of Worldwide Disease Prevalence and Genetic Prevalence of Inherited Retinal Diseases and Variant Interpretation Considerations M Hanany, S Shalom, T Ben-Yosef, D Sharon Cold Spring Harbor Perspectives in Medicine 14 (2), a041277, 2024 | 1 | 2024 |
Simultaneous Detection of Common Founder Mutations using a Cost-Effective Deep Sequencing Panel S Shalom, M Hanany, A Eilat, I Chowers, T Ben-Yosef, S Khateb, E Banin, ... | | 2023 |
Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily D Sharon, T Millo, JA Rivera, A Obolensky, D Marks-Ohana, E Wilhelm, ... Investigative Ophthalmology & Visual Science 63 (7), 2623-2623, 2022 | | 2022 |
Allele Frequency Analysis of Variants Reported to cause Autosomal Dominant Retinal Diseases Revealed that 17% of Genes and 9% of Mutations are Unlikely Pathogenic D Sharon, M Hanany Investigative Ophthalmology & Visual Science 60 (9), 2809-2809, 2019 | | 2019 |
Worldwide Carrier Frequency Analysis of Mutations Causing Autosomal Recessive Inherited Retinal Diseases M Hanany, S Meyer, C Rivolta, D Sharon Investigative Ophthalmology & Visual Science 60 (9), 407-407, 2019 | | 2019 |
The Genetics of Inherited Retinal Diseases in the Israeli and Palestinian Populations: A Lesson from Populations with High Rates of Consanguinity M Hanany, D Sharon Advances in Vision Research, Volume II: Genetic Eye Research in Asia and the …, 2019 | | 2019 |
Carrier Frequency Analysis of Mutations Causing Recessive Inherited Retinal Diseases in the Israeli Population D Sharon, G Allon, A Kimchi, A Blumenfeld, H Newman, E Pras, ... Investigative Ophthalmology & Visual Science 59 (9), 3494-3494, 2018 | | 2018 |
Clinical Characteristics of a Large Cohort of Patients with Retinitis Pigmentosa due to Biallelic FAM161A Mutations A Beryozkin, S Khateb, C Idrobo, M Hanany, A Obolensky, D Sharon, ... Investigative Ophthalmology & Visual Science 58 (8), 3219-3219, 2017 | | 2017 |
Identification of Homozygous and Hemizygous Genomic Deletions that Cause Inherited Retinal Degenerations by Analyzing Whole Exome Sequencing Data D Sharon, S Khateb, A Khalailah, A Beryozkin, L Mizrahi-Meissonnier, ... Investigative Ophthalmology & Visual Science 56 (7), 4346-4346, 2015 | | 2015 |