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Genes|July 27, 2024
Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal GenesMaria Abu Elasal, Samira Mousa, Manar Salameh, et al.
Molecular Aspects of Medicine|May 1, 2026
RNA editing of pathogenic variants causing inherited retinal diseases using endogenous ADAR-current and future perspectivesManar Salameh, Nina Schneider, Johanna Valensi, et al.
Molecular Vision|October 27, 2021
A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patientsHamzah Aweidah, Manar Salameh, Claudia Yahalom, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|August 15, 2023
Gene augmentation therapy attenuates retinal degeneration in a knockout mouse model of Fam161a retinitis pigmentosaChen Matsevich, Prakadeeswari Gopalakrishnan, Ning Chang, et al.
Translational Vision Science & Technology|March 1, 2023
Homozygous Knockout of Cep250 Leads to a Relatively Late-Onset Retinal Degeneration and Sensorineural Hearing Loss in MiceAlaa Abu-Diab, Prakadeeswari Gopalakrishnan, Chen Matsevich, et al.
JAMA Ophthalmology|July 17, 2025
Founder Homozygous Nonsense CREB3 Variant and Variable-Onset Retinal DegenerationManar Salameh, Ghadeer Abu Tair, Samira Mousa, et al.
Investigative Ophthalmology & Visual Science|April 27, 2022
ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt DiseaseZelia Corradi, Manar Salameh, Mubeen Khan, et al.
European Journal of Human Genetics : EJHG|December 13, 2024
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing lossMarianthi Karali, Gema García-García, Karolina Kaminska, et al.
HGG Advances|February 14, 2023
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correctionJanine Reurink, Nicole Weisschuh, Alejandro Garanto, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 21, 2020
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomicsMubeen Khan, Stéphanie S Cornelis, Marta Del Pozo-Valero, et al.
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