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ARVO Annual Meeting Abstract June 2024

Vitreous barrier function and its influence on drug distribution

Anfisa Ayalon; Avigail Beryozkin; Katherine A Davoli; Jiantao Pu; Xiaoyan Zhao; Jose Alain Sahel; Leah Byrne

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3967.

Genetics February 2024

Best Disease: Global Mutations Review, Genotype–Phenotype Correlation, and Prevalence Analysis in the Israeli Population

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Avigail Beryozkin; Ifat Sher; Miriam Ehrenberg; Dinah Zur; Hadas Newman; Libe Gradstein; Francis Simaan; Ygal Rotenstreich; Nitza Goldenberg-Cohen; Irit Bahar; Anat Blumenfeld; Antonio Rivera; Boris Rosin; Iris Deitch-Harel; Ido Perlman; Hadas Mechoulam; Itay Chowers; Rina Leibu; Tamar Ben-Yosef; Eran Pras; Eyal Banin; Dror Sharon; Samer Khateb
TAGS: best1 gene, genetic analysis, genotype-phenotype associations, mutation, prevalence, vitelliform dystrophy, proteins
Invest. Ophthalmol. Vis. Sci.. 2024; 65(2):39. https://doi.org/10.1167/iovs.65.2.39

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2023

Best Disease: Review of reported causing mutations, genotype-phenotype correlation, and prevalence analysis in the Israeli population

Samer Khateb; Ygal Rotenstreich; Nitza Goldenberg-Cohen; Libe Gradstein; Boris Rosin; Itay Chowers; Rina Leibu; Hadas Newman; Miriam Ehrenberg; Tamar Ben-Yosef; Eran Pras; Dina Zur; Eyal Banin; Dror Sharon; Avigail Beryozkin

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):1528.

Retina February 2023

An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of CYP4V2 as the Cause of Bietti Crystalline Dystrophy

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Mor Hanany; Richard Rui Yang; Chun Man Lam; Avigail Beryozkin; Yogapriya Sundaresan; Dror Sharon
TAGS: crystal structure, genes, genetics, mutation, prevalence
Trans. Vis. Sci. Tech.. 2023; 12(2):27. https://doi.org/10.1167/tvst.12.2.27

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2022

Relatively Slow Retinal Degeneration Process in a Fam161a Knock-in (KI) Mouse Model for the Human Nonsense Mutation p.Arg 523 *

Prakadeeswari Gopalakrishnan; Chen Matsevich; Eyal Banin; Dror Sharon; Avigail Beryozkin; Alexey Obolensky

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2588 – F0471.

ARVO Annual Meeting Abstract June 2021

Clinical characterization and genotype-phenotype correlation in RPGRIP1 patients with autosomal recessive early onset retinal degeneration

Avigail Beryozkin; Hamzah Aweidah; Roque Daniel Carrero-Valenzuela; Manar Salameh; Myriam Berman; Oscar Iguzquiza; Samer Khateb; Tamar Ben-Yosef; Dror Sharon; Eyal Banin

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3218.

ARVO Annual Meeting Abstract July 2019

Subretinal and Intravitreal Delivery of the Photoreceptor-Specific AAV2-7m8-hGRK1-GFP Viral Vector in Mice

Chen Matsevich; Deniz Dalkara; Alexey Obolensky; Melissa Desrosiers; Ayala Ejzenberg; Dror Sharon; Eyal Banin; Avigail Beryozkin

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2924.

ARVO Annual Meeting Abstract July 2018

Ataluren-mediated read-through of a nonsense mutation in FAM161A gene which causes retinitis pigmentosa

Avigail Beryozkin; Ananya Samanta; Samer Khateb; Eyal Banin; Dror Sharon; Uwe Wolfrum; Kerstin Nagel-Wolfrum

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5324.

ARVO Annual Meeting Abstract June 2017

Clinical Characteristics of a Large Cohort of Patients with Retinitis Pigmentosa due to Biallelic FAM161A Mutations

Avigail Beryozkin; Samer Khateb; Carlos Idrobo; Mor Hanany; Alexey Obolensky; Dror Sharon; Eyal Banin

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):3219.

ARVO Annual Meeting Abstract September 2016

Generation and characterization of Fam161a Conditional Knockout mice

Avigail Beryozkin; Alexey Obolensky; Segev Meyer; Ayala Ejzenberg; Chen Matsevich; Yvan Arsenijevic; Carlo Rivolta; Eyal Banin; Dror Sharon

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3151.

Genetics March 2016

Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual

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Avigail Beryozkin; Gal Levy; Anat Blumenfeld; Segev Meyer; Prasanthi Namburi; Yair Morad; Libe Gradstein; Anand Swaroop; Eyal Banin; Dror Sharon
TAGS: genes, genetic analysis, mosaicism, mutation, retinitis pigmentosa, rhodopsin, family
Invest. Ophthalmol. Vis. Sci.. 2016; 57(3):940-947. https://doi.org/10.1167/iovs.15-18702

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2015

Identification of Homozygous and Hemizygous Genomic Deletions that Cause Inherited Retinal Degenerations by Analyzing Whole Exome Sequencing Data

Dror Sharon; Samer Khateb; Ayat Khalailah; Avigail Beryozkin; Liliana Mizrahi-Meissonnier; Alaa Abu-diab; Fathiah Abu-Turkey; Mor Hanany; Tamar Ben-Yosef; Eyal Banin

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):4346.

Genetics February 2014

Identification of Mutations Causing Inherited Retinal Degenerations in the Israeli and Palestinian Populations Using Homozygosity Mapping

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Avigail Beryozkin; Lina Zelinger; Dikla Bandah-Rozenfeld; Elia Shevach; Anat Harel; Tim Storm; Michal Sagi; Dalia Eli; Saul Merin; Eyal Banin; Dror Sharon
TAGS: family, genes, homozygote, mutation, retinal degeneration
Invest. Ophthalmol. Vis. Sci.. 2014; 55(2):1149-1160. https://doi.org/10.1167/iovs.13-13625

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2013

Whole Exome Sequencing as a Tool for Identification of Genes Causing Autosomal Recessive Retinitis Pigmentosa

Dror Sharon; Lina Zelinger; Samer Khateb; Avigail Beryozkin; Liliana Mizrahi-Meissonnier; Samuel Jacobson; Eyal Banin

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):3348.

ARVO Annual Meeting Abstract June 2013

The farnesylated small GTPase RAB28 is mutated in autosomal recessive cone-rod dystrophy

Susanne Roosing; Klaus Rohrschneider; Avigail Beryozkin; Nicole Weisschuh; Susanne Kohl; Bernd Wissinger; Eyal Banin; Frans Cremers; Anneke Den Hollander; RAB28 Study Group

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):1228.

Genetics March 2013

Mutations in CRB1 are a Relatively Common Cause of Autosomal Recessive Early-Onset Retinal Degeneration in the Israeli and Palestinian Populations

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Avigail Beryozkin; Lina Zelinger; Dikla Bandah-Rozenfeld; Anat Harel; Tim A. Strom; Saul Merin; Itay Chowers; Eyal Banin; Dror Sharon
TAGS: autosomal recessive inheritance, mutation, retinal degeneration, homozygote
Invest. Ophthalmol. Vis. Sci.. 2013; 54(3):2068-2075. https://doi.org/10.1167/iovs.12-11419

Includes: Supplemental Content

ARVO Annual Meeting Abstract April 2011

A Missense Mutation in the Dehydrodolichyl Diphosphate Synthase (DHDDS) Gene is Associated with Autosomal Recessive Retinitis Pigmentosa in Ashkenazi Jews

Lina Zelinger; Eyal Banin; Alex Obolensky; Liliana Mizrahi-Meissonnier; Avigail Beryozkin; Tamar Ben-Yosef; Sharon B. Schwartz; Artur V. Cideciyan; Samuel G. Jacobson; Dror Sharon

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):75.

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Vitreous barrier function and its influence on drug distribution

Best Disease: Global Mutations Review, Genotype–Phenotype Correlation, and Prevalence Analysis in the Israeli Population

Best Disease: Review of reported causing mutations, genotype-phenotype correlation, and prevalence analysis in the Israeli population

An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of CYP4V2 as the Cause of Bietti Crystalline Dystrophy

Relatively Slow Retinal Degeneration Process in a Fam161a Knock-in (KI) Mouse Model for the Human Nonsense Mutation p.Arg 523 *

Clinical characterization and genotype-phenotype correlation in RPGRIP1 patients with autosomal recessive early onset retinal degeneration

Subretinal and Intravitreal Delivery of the Photoreceptor-Specific AAV2-7m8-hGRK1-GFP Viral Vector in Mice

Ataluren-mediated read-through of a nonsense mutation in FAM161A gene which causes retinitis pigmentosa

Clinical Characteristics of a Large Cohort of Patients with Retinitis Pigmentosa due to Biallelic FAM161A Mutations

Generation and characterization of Fam161a Conditional Knockout mice

Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual

Identification of Homozygous and Hemizygous Genomic Deletions that Cause Inherited Retinal Degenerations by Analyzing Whole Exome Sequencing Data

Identification of Mutations Causing Inherited Retinal Degenerations in the Israeli and Palestinian Populations Using Homozygosity Mapping

Whole Exome Sequencing as a Tool for Identification of Genes Causing Autosomal Recessive Retinitis Pigmentosa

The farnesylated small GTPase RAB28 is mutated in autosomal recessive cone-rod dystrophy

Mutations in CRB1 are a Relatively Common Cause of Autosomal Recessive Early-Onset Retinal Degeneration in the Israeli and Palestinian Populations

A Missense Mutation in the Dehydrodolichyl Diphosphate Synthase (DHDDS) Gene is Associated with Autosomal Recessive Retinitis Pigmentosa in Ashkenazi Jews

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