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ARVO Annual Meeting Abstract July 2019

Allele Frequency Analysis of Variants Reported to cause Autosomal Dominant Retinal Diseases Revealed that 17% of Genes and 9% of Mutations are Unlikely Pathogenic

Dror Sharon; Mor Hanany

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2809. doi: https://doi.org/

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. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

Worldwide Carrier Frequency Analysis of Mutations Causing Autosomal Recessive Inherited Retinal Diseases

Mor Hanany; Segev Meyer; Carlo Rivolta; Dror Sharon

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):407. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2018

Analysis of CEP78 knockout in zebrafish generated by CRISPR-Cas9

Yael Kinarty; Samer Khateb; Dror Sharon; Adi Inbal

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):375. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2018

A frameshift mutation in RDH12 causes autosomal dominant retinitis pigmentosa in families of Tunisian Jewish origin

Boris Rosin; Prasanthi Namburi; Muhammad Imran Khan; Frans P Cremers; Eyal Banin; Dror Sharon

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1004. doi: https://doi.org/

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. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2018

A missense variant in CACNA1F causes variable phenotype in female carriers and hemizygous males of three unrelated Jewish families of Russian origin

Adva Kimchi; Vardiella Meiner; Orly Elpeleg; Michal Macarov; Anat Blumenfeld; Isabelle S Audo; Christina Zeitz; Hadas Mechoulam; Eyal Banin; Dror Sharon; Claudia Yahalom

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5415. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2018

A heterozygous deletion of a noncoding part of the PRPF31 gene causes retinitis pigmentosa via reduced gene expression

Francesco Paolo Ruberto; Sara Balzano; Adva Kimchi; Prasanthi Namburi; Tamar Ben-Yosef; Eyal Banin; Dror Sharon; Carlo Rivolta

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5421. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2018

Carrier Frequency Analysis of Mutations Causing Recessive Inherited Retinal Diseases in the Israeli Population

Dror Sharon; Gilad Allon; Adva Kimchi; Anat Blumenfeld; Hadas Newman; Eran Pras; Libe Gradstein; Eyal Banin; Tamar Ben-Yosef; Mor Hanany

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):3494. doi: https://doi.org/

Genetics February 2018

The Genetics of Usher Syndrome in the Israeli and Palestinian Populations

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Ayat Khalaileh; Alaa Abu-Diab; Tamar Ben-Yosef; Annick Raas-Rothschild; Israela Lerer; Yahya Alswaiti; Itay Chowers; Eyal Banin; Dror Sharon; Samer Khateb
TAGS: mutation, family, genetics, usher syndrome
Invest. Ophthalmol. Vis. Sci.. 2018; 59(2):1095-1104. doi: https://doi.org/10.1167/iovs.17-22817

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2017

Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects

Adva Kimchi; Samer Khateb; Rong Wen; Ziqiang Guan; Eran Pras; Shoshi Kurtzman; Samuel G Jacobson; Hadas Newman; Tamar Ben-Yosef; Eyal Banin; Dror Sharon

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):570. doi: https://doi.org/

ARVO Annual Meeting Abstract June 2017

The Israeli Inherited Retinal Diseases Consortium (IIRDC): Mapping Inherited Retinal Diseases in the Israeli Population

Dror Sharon; Tamar Ben-Yosef; Nitza Goldenberg-Cohen; Libe Gradstein; Eran Pras; Anan Abbasi; Noam Shomron; Eedy Mezer; Miriam Ehrenberg; Shiri Zayit-Soudry; Hadas Newman; Rina Leibu; Ygal Rotenstreich; Haim Levy; Eyal Banin; Ido Perlman

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):1238. doi: https://doi.org/

ARVO Annual Meeting Abstract June 2017

Sequence analysis of 108 genes associated with non-syndromic inherited retinal diseases in 3,200 probands using molecular inversion probes

Muhammad Khan; Perez-Carro Raquel; Dror Sharon; Robert K Koenekoop; Carlo Rivolta; Elfride De Baere; Chris F Inglehearn; Susanne Kohl; Christian P Hamel; Tamar Ben-Yosef; Berta De la Cerda; Daniel F Schorderet; Sandro Banfi; Carmen Ayuso; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2758. doi: https://doi.org/

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. doi: https://doi.org/

ARVO Annual Meeting Abstract September 2016

The Genetics of Usher Syndrome in the Israeli and Palestinian Populations

Samer Khateb; Ayat Khalaileh; Tamar Ben-Yosef; Annick Raas-Rothschild; Itay Chowers; Eyal Banin; Dror Sharon

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3154. doi: https://doi.org/

ARVO Annual Meeting Abstract September 2016

Molecular inversion probe based sequence analysis of 108 genes associated with non-syndromic inherited retinal disease in 4,000 probands

M Imran Khan; Gilissen Christian; Ayuso Carmen; Dror Sharon; Robert K Koenekoop; Carlo Rivolta; Elfride De Baere; Chris F Inglehearn; Alexander Hoischen; Frans P Cremers

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12) doi: https://doi.org/

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. doi: https://doi.org/

ARVO Annual Meeting Abstract September 2016

Whole exome sequencing reveals a homozygous splicing mutation in CEP78 as the cause of atypical Usher syndrome in Eastern Jewish patients

Dror Sharon; Prasanthi Namburi; Rinki Ratnapriya; Csilla Lazar; Alexey Obolensky; Tamar Ben-Yosef; Eran Pras; Menachem Gross; Eyal Banin; Anand Swaroop

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3153. doi: https://doi.org/

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: mutation, family, genes, retinitis pigmentosa, rhodopsin, mosaicism, genetic analysis
Invest. Ophthalmol. Vis. Sci.. 2016; 57(3):940-947. doi: https://doi.org/10.1167/iovs.15-18702

Includes: Supplemental Content

Genetics November 2015

A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa

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Kristof Van Schil; B. Jeroen Klevering; Bart P. Leroy; Jan Willem R. Pott; Dikla Bandah-Rozenfeld; Marijke N. Zonneveld-Vrieling; Dror Sharon; Anneke I. den Hollander; Frans P. M. Cremers; Elfride De Baere; Rob W. J. Collin; L. Ingeborgh van den Born
TAGS: alleles, mutation, recurrence, retinitis pigmentosa, autosomal recessive inheritance, mutation, nonsense, dutch
Invest. Ophthalmol. Vis. Sci.. 2015; 56(12):7418-7426. doi: https://doi.org/10.1167/iovs.15-17920

Includes: Supplemental Content

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Allele Frequency Analysis of Variants Reported to cause Autosomal Dominant Retinal Diseases Revealed that 17% of Genes and 9% of Mutations are Unlikely Pathogenic

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

Worldwide Carrier Frequency Analysis of Mutations Causing Autosomal Recessive Inherited Retinal Diseases

Analysis of CEP78 knockout in zebrafish generated by CRISPR-Cas9

A frameshift mutation in RDH12 causes autosomal dominant retinitis pigmentosa in families of Tunisian Jewish origin

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

A missense variant in CACNA1F causes variable phenotype in female carriers and hemizygous males of three unrelated Jewish families of Russian origin

A heterozygous deletion of a noncoding part of the PRPF31 gene causes retinitis pigmentosa via reduced gene expression

Carrier Frequency Analysis of Mutations Causing Recessive Inherited Retinal Diseases in the Israeli Population

The Genetics of Usher Syndrome in the Israeli and Palestinian Populations

Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects

The Israeli Inherited Retinal Diseases Consortium (IIRDC): Mapping Inherited Retinal Diseases in the Israeli Population

Sequence analysis of 108 genes associated with non-syndromic inherited retinal diseases in 3,200 probands using molecular inversion probes

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

The Genetics of Usher Syndrome in the Israeli and Palestinian Populations

Molecular inversion probe based sequence analysis of 108 genes associated with non-syndromic inherited retinal disease in 4,000 probands

Generation and characterization of Fam161a Conditional Knockout mice

Whole exome sequencing reveals a homozygous splicing mutation in CEP78 as the cause of atypical Usher syndrome in Eastern Jewish patients

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

A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa

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