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Meeting Abstract (4)
Journal Articles (2)

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Investigative Ophthalmology & Visual Science (5)
Translational Vision Science & Technology (1)

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ARVO Annual Meeting Abstract (4)
Genetics (1)
Retina (1)

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Genetics (2)
Eye Anatomy and Disorders (1)
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Translational Research (1)
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abca4 gene (1)
exons (1)
homozygote (1)
introns (1)
mice (1)
mice, knockout (1)
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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.

Retina March 2023

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

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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

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

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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

ABCA4 c.859-25A>G, a frequent Palestinian founder mutation associated with retinal dystrophy, results in multiple splice defects

Manar Salameh; Zelia Corradi; Mubeen Khan; Ajoy Vincent; Elise Heon; Rebekkah Hitti-Malin; Yahya AlSwaiti; Eyal Banin; Claire-Marie Dhaenens; Dror Sharon; Alaa AlTalbishi; Frans P.M. Cremers

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):6.

ARVO Annual Meeting Abstract June 2021

A Deep Intronic Substitution in CNGB3 is One of the Major Causes of Achromatopsia among Jewish Patients

Hamzah Aweidah; Manar Salameh; Claudia Yahalom; Anat Blumenfeld; Michal Macarov; Nicole Weisschuh; Susanne Kohl; Eyal Banin; Dror Sharon

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):4.

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.

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Online ISSN: 2164-2591

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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