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Genetics February 2025

Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll

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Kari Branham; Lassana Samarakoon; Isabelle Audo; Allison R. Ayala; Janet K. Cheetham; Stephen P. Daiger; Patty Dhooge; Jacque L. Duncan; Todd A. Durham; Abigail T. Fahim; Rachel M. Huckfeldt; Robert B. Hufnagel; Susanne Kohl; Ramiro S. Maldonado; Michele Melia; Michel Michaelides; Mark E. Pennesi; José-Alain Sahel; Juliana M. Ferraz Sallum; Mandeep S. Singh; Dror Sharon; Kimberly Stepien; Kaylie Jones; Christina Y. Weng; for the Foundation Fighting Blindness Clinical Consortium Investigator Group
TAGS: blindness, genes, genetics, retinal diseases, social survey
Invest. Ophthalmol. Vis. Sci.. 2025; 66(2):12. https://doi.org/10.1167/iovs.66.2.12

Includes: Supplemental Content

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

CDHR1- associated retinal degeneration: clinical phenotypes, natural history and molecular genetics from 135 cases

Imran H Yusuf; Richard Caswell; Stephen H Tsang; Carmen Ayuso; Dror Sharon; Juliana M F Sallum; Carel C B Hoyng; Petra Liskova; Ajoy Vincent; Madhavan Jagadeesan; Bart Peter Leroy; Jose Millán; Smaragda Kamakari; Andrew Webster; Robert E MacLaren; Peter Charbel Issa

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):2132.

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

The Interplay between ADAR-based RNA Editing and Splicing-related Variants in ABCA4

Nina Schneider; Johanna Valensi; Dror Sharon

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):4689.

ARVO Annual Meeting Abstract June 2024

Fine-tuning of therapeutic gene regulation is essential for functional improvement in FAM161A-deficient ciliopathy

Corinne Kostic; Ning Chang; Olivier Mercey; Younes El Fersioui; Alexis-Pierre Bemelmans; Carlo Rivolta; Eyal Banin; Dror Sharon; Paul Guichard; Virginie Hamel; Yvan Arsenijevic

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):5339.

ARVO Annual Meeting Abstract June 2024

An intronic REEP6 variant affecting the splicing of a retina-specific exon causes autosomal recessive retinitis pigmentosa in Palestinian patients

Manar Ismail Salameh; Daan Panneman; Susanne Roosing; Frans Cremers; Samer Khateb; Yahya Swaiti; Wissam Saleh; Eyal Banin; Alaa Talbishi; Dror Sharon

Invest. Ophthalmol. Vis. Sci.. 2024; 65(7):6036.

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

RNA editing of mutations causing inherited retinal diseases using the cellular deaminase acting on RNA (ADAR) enzyme

Dror Sharon; Nina Schneider; Johanna Valensi; Ricky Steinberg; Amit Eylon; Eyal Banin; Erez Levanon; Shay Ben-Aroya

Invest. Ophthalmol. Vis. Sci.. 2023; 64(8):770.

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 March 2023

Homozygous Knockout of Cep250 Leads to a Relatively Late-Onset Retinal Degeneration and Sensorineural Hearing Loss in Mice

PDF

Alaa Abu-Diab; Prakadeeswari Gopalakrishnan; Chen Matsevich; Marije de Jong; Alexey Obolensky; Ayat Khalaileh; Manar Salameh; Ayala Ejzenberg; Menachem Gross; Eyal Banin; Dror Sharon; Samer Khateb
TAGS: homozygote, mice, retinal degeneration, sensorineural hearing loss, mice, knockout, retina
Trans. Vis. Sci. Tech.. 2023; 12(3):3. https://doi.org/10.1167/tvst.12.3.3

Includes: Supplemental Content

Retina February 2023

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

PDF

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

RNA Editing of Israeli Founder Nonsense Mutations causing IRDs using Site-Directed Adenosine Deaminase Acting on RNA

Nina Schneider; Ricky Steinberg; Johanna Valensi; Amit Eylon; Eyal Banin; Erez Levanon; Shay Ben-Aroya; Dror Sharon

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):58 – A0031.

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 2022

Dual mutational mechanism of the KIZ c.226C>T mutation as the cause of autosomal recessive retinitis pigmentosa

Yogapriya Sundaresan; Maya Ross; Ron Ofri; Eyal Banin; Dror Sharon

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):1599 – A0388.

ARVO Annual Meeting Abstract June 2022

Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily

Dror Sharon; Talya Millo; Jose Antonio Rivera; Alexey Obolensky; Dvorah Marks-Ohana; Enosh Wilhelm; Prakadee Gopalakrish; Menachem Gross; Boris Rosin; Mor Hanany; Anna Maria Tracewska; Ora Schueler-Furman; Susanne Roosing; Eyal Banin

Invest. Ophthalmol. Vis. Sci.. 2022; 63(7):2623.

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.

Genetics April 2022

ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease

PDF

Zelia Corradi; Manar Salameh; Mubeen Khan; Elise Héon; Ketan Mishra; Rebekkah J. Hitti-Malin; Yahya AlSwaiti; Alice Aslanian; Eyal Banin; Brian P. Brooks; Wadih M. Zein; Robert B. Hufnagel; Susanne Roosing; Claire‐Marie Dhaenens; Dror Sharon; Frans P. M. Cremers; Alaa AlTalbishi
TAGS: abca4 gene, introns, mutation, stargardt's disease, proband, rna splicing, exons
Invest. Ophthalmol. Vis. Sci.. 2022; 63(4):20. https://doi.org/10.1167/iovs.63.4.20

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2021

Identification and functional analysis of novel deep intronic and structural ABCA4 variants in 876 Stargardt disease cases

Zelia Corradi; Mubeen Khan; Ketan Mishra; Laura Whelan; Rebekkah Hitti-Malin; Stephanie Cornelis; Claire-Marie Dhaenens; G. Jane Farrar; Dror Sharon; Frans P.M. Cremers

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1567.

ARVO Annual Meeting Abstract June 2021

Retinal Degeneration Associated with Mutations in the KIZ Gene

Jose Antonio Rivera; Inbar Erdinst; Asala Onala; Sarah Idan; Aya Shemesh; Dror Sharon; Eyal Banin

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3227.

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Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll

Nationwide prevalence assessment of inherited retinal diseases in the Israeli population

CDHR1- associated retinal degeneration: clinical phenotypes, natural history and molecular genetics from 135 cases

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

The Interplay between ADAR-based RNA Editing and Splicing-related Variants in ABCA4

Fine-tuning of therapeutic gene regulation is essential for functional improvement in FAM161A-deficient ciliopathy

An intronic REEP6 variant affecting the splicing of a retina-specific exon causes autosomal recessive retinitis pigmentosa in Palestinian patients

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

RNA editing of mutations causing inherited retinal diseases using the cellular deaminase acting on RNA (ADAR) enzyme

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

Homozygous Knockout of Cep250 Leads to a Relatively Late-Onset Retinal Degeneration and Sensorineural Hearing Loss in Mice

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

RNA Editing of Israeli Founder Nonsense Mutations causing IRDs using Site-Directed Adenosine Deaminase Acting on RNA

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

Dual mutational mechanism of the KIZ c.226C>T mutation as the cause of autosomal recessive retinitis pigmentosa

Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily

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

ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease

Identification and functional analysis of novel deep intronic and structural ABCA4 variants in 876 Stargardt disease cases

Retinal Degeneration Associated with Mutations in the KIZ Gene

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