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ARVO Annual Meeting Abstract June 2024

Nationwide prevalence assessment of inherited retinal diseases in the Israeli population

Sapir Shalom; Tamar Ben-Yosef; Ifat Sher; Ygal Rotenstreich; Ohad Birk; Libe Gradstein; Miriam Ehrenberg; Iris Deitch; Eran Pras; Dinah Zur; Hadas Newman; Nitza Goldenberg-Cohen; Shiri Soudry; Ido Perlman; Eyal Banin; Dror Sharon

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):3095.

ARVO Annual Meeting Abstract June 2024

Single nucleotide variations and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa

Dror Sharon; Tamar Hayman; Shai Ovadia; Jaya Krishnan; Manon Bouckaert; Daan Panneman; Milton English; Susanne Roosing; Frans Cremers; Tamar Ben-Yosef; Eyal Banin; Ruth Ashery-Padan; Frauke Coppieters; Anand Swaroop

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4936.

ARVO Annual Meeting Abstract June 2024

Whole genome sequencing revealed causative deep-intronic PCDH15 and de novo USH2A variants in patients with Usher syndrome

Kim Rodenburg; L. Ingeborgh van den Born; Lonneke Haer-Wigman; Janine Reurink; Christian Gilissen; Frans PM Cremers; Tamar Ben-Yosef; Helger Yntema; Erik Vrieze; Ulrich Zechner; David Rosenkranz; Hannie Kremer; Erwin Wijk; Hanno J. Bolz; Suzanne E. de Bruijn; Susanne Roosing

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4678.

ARVO Annual Meeting Abstract June 2024

PRPH2 Gene Mutations and Associated Phenotypes in IRD patients with diverse genetic background.

Christopher Hallock; Riccardo Sangermano; Elfride De Baere; Siying Lin; Jennifer Thompson; Pascal Escher; Andrea L Vincent; Kaylie D Webb-Jones; Monika Grudzinska Pechhacker; Jacque L Duncan; Samer Khateb; Tamar Ben-Yosef; David G Birch; Andrew Webster; Radha Ayyagari

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5297.

Genetics February 2024

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

PDF

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.

ARVO Annual Meeting Abstract June 2023

Identification of Ceramide Kinase-Like (CERKL) protein-protein interactions in the mammalian retina

Tamar Ben-Yosef; Maayan Mizrahi

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):4434.

ARVO Annual Meeting Abstract June 2022

Autosomal dominant retinitis pigmentosa with reduced penetrance due to an intronic mutation in PRPF31

Tamar Ben-Yosef; Tahlil Ali Nasser; Shiri Zayit-Soudry; Eyal Banin; Dror Sharon

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):136 – A0316.

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 June 2020

PRCD interacts with TULP1 in the mammalian retina

Tamar Ben-Yosef

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):4419.

ARVO Annual Meeting Abstract July 2019

Retinal Degeneration and Impaired Phagocytosis of Photoreceptor Outer Segment Discs in Prcd -Knockout Mice

Tamar Ben-Yosef; Gilad Allon; Irit Mann; Uwe Wolfrum; Ido Perlman

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):2380.

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.

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.

Genetics February 2018

The Genetics of Usher Syndrome in the Israeli and Palestinian Populations

PDF

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

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.

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.

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

PDF

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

Includes: Supplemental Content

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)

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.

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Nationwide prevalence assessment of inherited retinal diseases in the Israeli population

Single nucleotide variations and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa

Whole genome sequencing revealed causative deep-intronic PCDH15 and de novo USH2A variants in patients with Usher syndrome

PRPH2 Gene Mutations and Associated Phenotypes in IRD patients with diverse genetic background.

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

Identification of Ceramide Kinase-Like (CERKL) protein-protein interactions in the mammalian retina

Autosomal dominant retinitis pigmentosa with reduced penetrance due to an intronic mutation in PRPF31

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

PRCD interacts with TULP1 in the mammalian retina

Retinal Degeneration and Impaired Phagocytosis of Photoreceptor Outer Segment Discs in Prcd -Knockout Mice

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

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

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

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

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