Publications by authors named "Dror Sharon"

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RetiGene, a comprehensive gene atlas for inherited retinal diseases.
Carlo Rivolta, Elifnaz Celik, Dhryata Kamdar, Francesca Cancellieri, Karolina Kaminska, Dror Sharon

Am J Hum Genet· October 2025

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Founder Homozygous Nonsense CREB3 Variant and Variable-Onset Retinal Degeneration.
Manar Salameh, Ghadeer Abu Tair, Samira Mousa, Alexey Obolensky, Anand Swaroop, Dror Sharon

JAMA Ophthalmol· August 2025

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Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa.
Tamar Hayman, Shai Ovadia, Jaya Krishnan, Manon Bouckaert, Daan M Panneman, Dror Sharon

Genet Med· July 2025

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Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy.
Miriam Ehrenberg, Maayan Avraham, Sandeep Sarma Asodu, Abigail R Moye, Riccardo Sangermano, Dror Sharon

Genet Med· June 2025

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RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs).
Mathieu Quinodoz, Elifnaz Celik, Dhryata Kamdar, Francesca Cancellieri, Karolina Kaminska, Dror Sharon

bioRxiv· June 2025

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Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis.
Sofia Kulyamzin, Rina Leibu, Hadas Newman, Miriam Ehrenberg, Nitza Goldenberg-Cohen, Dror Sharon

Genes (Basel)· June 2025

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Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.
Karolina Kaminska, Francesca Cancellieri, Mathieu Quinodoz, Abigail R Moye, Miriam Bauwens, Dror Sharon

Am J Hum Genet· April 2025

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Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll.
Kari Branham, Lassana Samarakoon, Isabelle Audo, Allison R Ayala, Janet K Cheetham, Dror Sharon

Invest Ophthalmol Vis Sci· February 2025

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Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study.
Austin D Igelman, Elizabeth White, Alaa Tayyib, Lesley Everett, Ajoy Vincent, Dror Sharon

Br J Ophthalmol· January 2025

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De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, Karolina Kaminska, Suzanne E de Bruijn, Dror Sharon

medRxiv· January 2025

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A Leaky Deep Intronic Splice Variant in Is Associated with Non-Syndromic Retinitis Pigmentosa.
Maria Abu Elasal, Samer Khateb, Daan M Panneman, Susanne Roosing, Frans P M Cremers, Dror Sharon

Genes (Basel)· October 2024

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-associated retinopathy: genotype-phenotype correlations - study group report 3.
Thales A C de Guimaraes, Michalis Georgiou, Anthony G Robson, Kaoru Fujinami, Ajoy Vincent, Dror Sharon

Br J Ophthalmol· July 2024

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Nationwide Prevalence of Inherited Retinal Diseases in the Israeli Population.
Sapir Shalom, Tamar Ben-Yosef, Ifat Sher, Amir Zag, Ygal Rotenstreich, Dror Sharon

JAMA Ophthalmol· July 2024

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Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.
Maria Abu Elasal, Samira Mousa, Manar Salameh, Anat Blumenfeld, Samer Khateb, Dror Sharon

Genes (Basel)· July 2024

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Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.
Ji Hoon Han, Kim Rodenburg, Tamar Hayman, Giacomo Calzetti, Karolina Kaminska, Dror Sharon

Genet Med· June 2024

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Genetic and Clinical Analyses of the -c.226C>T Variant Resulting in a Dual Mutational Mechanism.
Yogapriya Sundaresan, Antonio Rivera, Alexey Obolensky, Prakadeeswari Gopalakrishnan, Hanit Ohayon Hadad, Sharon Durst, Dror Sharon

Genes (Basel)· June 2024

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Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.
Stéphanie S Cornelis, Joanna IntHout, Esmee H Runhart, Olivier Grunewald, Siying Lin, Dror Sharon

JAMA Ophthalmol· May 2024

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Simultaneous Detection of Common Founder Mutations Using a Cost-Effective Deep Sequencing Panel.
Sapir Shalom, Mor Hanany, Avital Eilat, Itay Chowers, Tamar Ben-Yosef, Dror Sharon

Genes (Basel)· May 2024

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Fine-tuning FAM161A gene augmentation therapy to restore retinal function.
Yvan Arsenijevic, Ning Chang, Olivier Mercey, Younes El Fersioui, Hanna Koskiniemi-Kuendig, Dror Sharon

EMBO Mol Med· April 2024

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A pipeline for identifying guide RNA sequences that promote RNA editing of nonsense mutations that cause inherited retinal diseases.
Nina Schneider, Ricky Steinberg, Amit Ben-David, Johanna Valensi, Galit David-Kadoch, Dror Sharon

Mol Ther Nucleic Acids· March 2024

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Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Dror Sharon

Biomolecules· March 2024

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Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes.
Tamar Hayman, Talya Millo, Karen Hendler, Itay Chowers, Menachem Gross, Dror Sharon

J Med Genet· February 2024

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Best Disease: Global Mutations Review, Genotype-Phenotype Correlation, and Prevalence Analysis in the Israeli Population.
Avigail Beryozkin, Ifat Sher, Miriam Ehrenberg, Dinah Zur, Hadas Newman, Dror Sharon

Invest Ophthalmol Vis Sci· February 2024

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Gene augmentation therapy attenuates retinal degeneration in a knockout mouse model of Fam161a retinitis pigmentosa.
Chen Matsevich, Prakadeeswari Gopalakrishnan, Ning Chang, Alexey Obolensky, Avigail Beryozkin, Dror Sharon

Mol Ther· October 2023

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Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.
Zelia Corradi, Mubeen Khan, Rebekkah Hitti-Malin, Ketan Mishra, Laura Whelan, Dror Sharon

HGG Adv· October 2023

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