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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:

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:

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: 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:

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:

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:

Retina October 2016

Homozygosity for a Recessive Loss-of-Function Mutation of the NRL Gene Is Associated With a Variant of Enhanced S-Cone Syndrome

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Hadas Newman; Sergiu C. Blumen; Itzhak Braverman; Rana Hanna; Beatrice Tiosano; Ido Perlman; Tamar Ben-Yosef
TAGS: mutation, retinal cone, electroretinography, genes, heterozygote, homozygote, syndrome
Invest. Ophthalmol. Vis. Sci.. 2016; 57(13):5361-5371. doi: 10.1167/iovs.16-19505

Includes: Supplemental Content

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:

ARVO Annual Meeting Abstract September 2016

A combination of oculopharyngeal muscular dystrophy and a variant of enhanced S-cone syndrome in Bukharan Jews due to linked mutations in PABPN1 and NRL

Tamar Ben-Yosef; Hadas Newman; Itzhak Braverman; Sergiu Blumen; Rana Hanna; Beatrice Tiosano; Ido Perlman

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3165. doi:

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:

ARVO Annual Meeting Abstract September 2016

Identification of 23 novel candidate genes for inherited retinal diseases in the European Retinal Disease Consortium

Galuh D.N. Astuti; Tamar Ben-Yosef; Susanne Kohl; Rando Allikmets; Graeme C.M. Black; Shomi S Bhattacharya; Christian P Hamel; M Imran Khan; Lonneke Haer-Wigman; Frans P Cremers

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

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. doi:

ARVO Annual Meeting Abstract June 2015

An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy

Tamar Ben-Yosef; Osnat Eidinger; Rina Leibu; Hadas Newman; Leah Rizel; Ido Perlman

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2898. doi:

ARVO Annual Meeting Abstract April 2014

The Progressive Rod-Cone Degeneration (PRCD) Protein is Secreted Through the Conventional ER/Golgi-Dependent Pathway

Tamar Ben-Yosef; Lital Remez; Ditta Zobor; Susanne Kohl

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):2687. doi:

ARVO Annual Meeting Abstract June 2013

Exome sequencing identifies mutations of both MYO7A and PDE6B in three siblings with retinitis pigmentosa

Tamar Ben-Yosef; Nitza Goldenberg-Cohen; Eyal Banin; Ben Cohen; Yael Zalzstein; Leah Rizel; Lina Basel-Vanagaite

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):3346. doi:

Biochemistry and Molecular Biology July 2012

Ceramide Kinase-Like (CERKL) Interacts with Neuronal Calcium Sensor Proteins in the Retina in a Cation-Dependent Manner

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Mariela J. Nevet; Sharon Vekslin; Alexander M. Dizhoor; Elena V. Olshevskaya; Rotem Tidhar; Anthony H. Futerman; Tamar Ben-Yosef
TAGS: calcium, cations, ceramides, phosphotransferases, proteins, retina, sensor
Invest. Ophthalmol. Vis. Sci.. 2012; 53(8):4565-4574. doi: 10.1167/iovs.12-9770

ARVO Annual Meeting Abstract March 2012

PRCD Is A Secreted Protein Which Interacts With Other Retinal Degeneration Causative Proteins

Tamar Ben-Yosef; Lital Remez; Ben Cohen; Judith M. Nevet

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1598. doi:

ARVO Annual Meeting Abstract April 2011

Mutation Survey of FAM161A in Patients with Retinitis Pigmentosa and Analysis of Protein Localization in the Human Retina

Dror Sharon; Dikla Bandah-Rozenfeld; Alexey Obolensky; Liliana Mizrahi-Meissonnier; Tamar Ben-Yosef; Sharon B. Schwartz; Artur V. Cideciyan; Samuel G. Jacobson; Eyal Banin

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):5388. doi:

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. doi:

ARVO Annual Meeting Abstract April 2011

Characterization Of Ceramide Kinase-Like (CERKL) In The Mammalian Retina

Tamar Ben-Yosef; Mariela J. Nevet; Sharon Vekslin

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):1640. doi:

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

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

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

Homozygosity for a Recessive Loss-of-Function Mutation of the NRL Gene Is Associated With a Variant of Enhanced S-Cone Syndrome

The Genetics of Usher Syndrome in the Israeli and Palestinian Populations

A combination of oculopharyngeal muscular dystrophy and a variant of enhanced S-cone syndrome in Bukharan Jews due to linked mutations in PABPN1 and NRL

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

Identification of 23 novel candidate genes for inherited retinal diseases in the European Retinal Disease Consortium

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

An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy

The Progressive Rod-Cone Degeneration (PRCD) Protein is Secreted Through the Conventional ER/Golgi-Dependent Pathway

Exome sequencing identifies mutations of both MYO7A and PDE6B in three siblings with retinitis pigmentosa

Ceramide Kinase-Like (CERKL) Interacts with Neuronal Calcium Sensor Proteins in the Retina in a Cation-Dependent Manner

PRCD Is A Secreted Protein Which Interacts With Other Retinal Degeneration Causative Proteins

Mutation Survey of FAM161A in Patients with Retinitis Pigmentosa and Analysis of Protein Localization in the Human Retina

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

Characterization Of Ceramide Kinase-Like (CERKL) In The Mammalian Retina

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