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D. Sharon · SciRah

Researcher profile · Semantic Scholar

D. Sharon

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D. Sharon — researcher profile on SciRah

h-index: 44
Works: 229
Citations: 6,528

Most-cited papers

Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases
Mor Hanany, C. Rivolta, D. Sharon
2020Proceedings of the National Academy of Sciences of the United States of America361 citations Open access
Semantic Scholar
Inherited retinal diseases: Linking genes, disease-causing variants, and relevant therapeutic modalities.
Nina Schneider, Yogapriya Sundaresan, P. Gopalakrishnan, Avigail Beryozkin +5 more
2021Progress in retinal and eye research181 citations
Semantic Scholar
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
I. Perea-Romero, G. Gordo, I. Iancu, M. Del Pozo-Valero +110 more
2021Scientific Reports132 citations Open access
Semantic Scholar
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
Mubeen Khan, S. S. Cornelis, M. Del Pozo-Valero, Laura Whelan +71 more
2020Genetics in Medicine125 citations Open access
Semantic Scholar
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)
D. Sharon, T. Ben-Yosef, N. Goldenberg-Cohen, E. Pras +17 more
2019Human Mutation112 citations Open access
Semantic Scholar
Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium
Debra A. Thompson, A. Iannaccone, R. Ali, Vadim Y. Arshavsky +31 more
2020Translational Vision Science & Technology89 citations Open access
Semantic Scholar
A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans
Samer Khateb, Björn Kowalewski, Nicola Bedoni, M. Damme +9 more
2018Genetics in Medicine60 citations Open access
Semantic Scholar
Comparison of Worldwide Disease Prevalence and Genetic Prevalence of Inherited Retinal Diseases and Variant Interpretation Considerations.
Mor Hanany, Sapir Shalom, T. Ben-Yosef, D. Sharon
2023Cold Spring Harbor Perspectives in Medicine44 citations
Semantic Scholar
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.
S. D. de Bruijn, K. Rodenburg, J. Corominas, T. Ben-Yosef +23 more
2022Genetics in Medicine39 citations Open access
Semantic Scholar
RetiGene, a comprehensive gene atlas for inherited retinal diseases
C. Rivolta, Elifnaz Celik, D. Kamdar, Francesca Cancellieri +27 more
2025American Journal of Human Genetics34 citations Open access
Semantic Scholar
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation
N. Weisschuh, M. Sturm, Britta Baumann, I. Audo +21 more
2019Human Mutation34 citations Open access
Semantic Scholar
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F‐mediated inherited retinal disorders
C. Zeitz, C. Michiels, M. Neuillé, C. Friedburg +53 more
2019Human Mutation31 citations Open access
Semantic Scholar
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
Janine Reurink, N. Weisschuh, A. Garanto, Adrian Dockery +46 more
2023HGG advances30 citations Open access
Semantic Scholar
Allele frequency analysis of variants reported to cause autosomal dominant inherited retinal diseases question the involvement of 19% of genes and 10% of reported pathogenic variants
Mor Hanany, D. Sharon
2019Journal of Medical Genetics28 citations
Semantic Scholar
KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints—KCNV2 Study Group Report 2
M. Georgiou, K. Fujinami, Ajoy Vincent, Fadi Nasser +33 more
2021American journal of ophthalmology-glaucoma27 citations Open access
Semantic Scholar
KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course—KCNV2 Study Group Report 1
M. Georgiou, A. Robson, K. Fujinami, S. Leo +32 more
2020American journal of ophthalmology-glaucoma27 citations Open access
Semantic Scholar
Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis
Hanna Wimberg, D. Lev, Keren Yosovich, Prasanthi Namburi +3 more
2018Frontiers in Molecular Neuroscience27 citations Open access
Semantic Scholar
Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa
Monika Weisz Hubshman, S. Broekman, E. van Wijk, F. Cremers +10 more
2018Human Molecular Genetics24 citations Open access
Semantic Scholar
TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations
Ala'a AlTalbishi, Lina Zelinger, C. Zeitz, Karen Hendler +7 more
2019Scientific Reports23 citations Open access
Semantic Scholar
Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype–Phenotype Correlation in 228 Patients
Avigail Beryozkin, Hamzah Aweidah, R. Carrero-Valenzuela, M. Berman +9 more
2021Frontiers in Cell and Developmental Biology22 citations Open access
Semantic Scholar
The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies
Alaa Abu-Diab, Ala'a AlTalbishi, B. Rosin, M. Kanaan +6 more
2019Acta ophthalmologica22 citations Open access
Semantic Scholar
A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews
Yasmin Tatour, Jonathan Tamaiev, Shamaly Shamaly, R. Colombo +11 more
2019Molecular Vision21 citations
Semantic Scholar
A new mouse model for retinal degeneration due to Fam161a deficiency
Avigail Beryozkin, Chen Matsevich, A. Obolensky, C. Kostic +4 more
2021Scientific Reports20 citations Open access
Semantic Scholar
Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations
Avigail Beryozkin, Samer Khateb, Carlos Alberto Idrobo-Robalino, M. A. Khan +9 more
2020Scientific Reports18 citations Open access
Semantic Scholar
Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population
Mor Hanany, G. Allon, A. Kimchi, A. Blumenfeld +8 more
2018European Journal of Human Genetics17 citations Open access
Semantic Scholar
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa
M. Quinodoz, K. Rodenburg, Zuzana Cvačková, Karolina Kaminska +166 more
2025medRxiv16 citations Open access
Semantic Scholar
Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression
F. Ruberto, Sara Balzano, Prasanthi Namburi, A. Kimchi +6 more
2021Molecular Vision16 citations
Semantic Scholar
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD
Riccardo Sangermano, Iris Deitch, V. Peter, R. Ba-Abbad +22 more
2021npj Genomic Medicine16 citations Open access
Semantic Scholar
Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily.
Talya Millo, Antonio Rivera, A. Obolensky, Devorah Marks-Ohana +16 more
2022Genetics in Medicine15 citations Open access
Semantic Scholar
A unique PRDM13-associated variant in a Georgian Jewish family with probable North Carolina macular dystrophy and the possible contribution of a unique CFH variant
Prasanthi Namburi, Samer Khateb, Segev Meyer, Tom Bentovim +6 more
2020Molecular Vision15 citations
Semantic Scholar
Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll
K. Branham, Lassana Samarakoon, Isabelle Audo, Allison R. Ayala +20 more
2025Investigative Ophthalmology and Visual Science13 citations Open access
Semantic Scholar
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability
Z. Corradi, Mubeen Khan, R. Hitti-Malin, Ketan Mishra +15 more
2023HGG advances13 citations Open access
Semantic Scholar
Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children
N. Levinger, Karen Hendler, E. Banin, Mor Hanany +7 more
2020European Journal of Ophthalmology13 citations
Semantic Scholar
Nationwide Prevalence of Inherited Retinal Diseases in the Israeli Population.
Sapir Shalom, T. Ben-Yosef, I. Sher, Amir Zag +20 more
2024JAMA ophthalmology12 citations
Semantic Scholar
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.
Ji Hoon Han, K. Rodenburg, T. Hayman, G. Calzetti +21 more
2024Genetics in Medicine12 citations Open access
Semantic Scholar
Fine-tuning FAM161A gene augmentation therapy to restore retinal function
Y. Arsenijevic, Ning Chang, O. Mercey, Younes El Fersioui +9 more
2023bioRxiv12 citations Open access
Semantic Scholar
Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes
T. Hayman, Talya Millo, Karen Hendler, I. Chowers +3 more
2023Journal of Medical Genetics12 citations
Semantic Scholar
The Genetics of Usher Syndrome in the Israeli and Palestinian Populations.
A. Khalaileh, Alaa Abu-Diab, T. Ben-Yosef, A. Raas-Rothschild +6 more
2018Investigative Ophthalmology and Visual Science12 citations Open access
Semantic Scholar
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa
M. Quinodoz, K. Rodenburg, Zuzana Cvačková, Karolina Kaminska +184 more
2026Nature Genetics11 citations Open access
Semantic Scholar
An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of CYP4V2 as the Cause of Bietti Crystalline Dystrophy
Mor Hanany, R. R. Yang, Chung-Man Lam, Avigail Beryozkin +2 more
2023Translational Vision Science & Technology11 citations Open access
Semantic Scholar
An Ashkenazi Jewish founder mutation in CACNA1F causes retinal phenotype in both hemizygous males and heterozygous female carriers
A. Kimchi, V. Meiner, S. Silverstein, M. Macarov +8 more
2019Ophthalmic Genetics11 citations
Semantic Scholar
Translational Read-Through Drugs (TRIDs) Are Able to Restore Protein Expression and Ciliogenesis in Fibroblasts of Patients with Retinitis Pigmentosa Caused by a Premature Termination Codon in FAM161A
Avigail Beryozkin, Ananya Samanta, P. Gopalakrishnan, Samer Khateb +3 more
2022International Journal of Molecular Sciences10 citations Open access
Semantic Scholar
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.
S. S. Cornelis, J. Inthout, E. H. Runhart, O. Grunewald +16 more
2024JAMA ophthalmology9 citations Open access
Semantic Scholar
Best Disease: Global Mutations Review, Genotype–Phenotype Correlation, and Prevalence Analysis in the Israeli Population
Avigail Beryozkin, I. Sher, Miriam Ehrenberg, D. Zur +19 more
2024Investigative Ophthalmology and Visual Science8 citations Open access
Semantic Scholar
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes
R. Hitti-Malin, Daan M. Panneman, Z. Corradi, E. Boonen +56 more
2024Biomolecules8 citations Open access
Semantic Scholar
Gene Augmentation Therapy Attenuates Retinal Degeneration in a Knock-Out Mouse Model of Fam161a Retinitis Pigmentosa.
Chen Matsevich, P. Gopalakrishnan, Ning Chang, A. Obolensky +6 more
2023Molecular Therapy8 citations Open access
Semantic Scholar
KCNV2-associated retinopathy: genotype–phenotype correlations – KCNV2 study group report 3
T. A. D. de Guimaraes, M. Georgiou, A. Robson, K. Fujinami +32 more
2023British Journal of Ophthalmology8 citations Open access
Semantic Scholar
Enhancer of Zeste Homolog 2 (EZH2) Contributes to Rod Photoreceptor Death Process in Several Forms of Retinal Degeneration and Its Activity Can Serve as a Biomarker for Therapy Efficacy
M. Mbefo, Adeline Berger, Karine Schouwey, X. Gérard +9 more
2021International Journal of Molecular Sciences8 citations Open access
Semantic Scholar
Chromatic pupilloperimetry for objective diagnosis of Best vitelliform macular dystrophy
Daniel Ben-Ner, I. Sher, Amit Hamburg, Mohamad O Mhajna +9 more
2019Clinical Ophthalmology8 citations Open access
Semantic Scholar
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy
Karolina Kaminska, Francesca Cancellieri, M. Quinodoz, A. R. Moye +52 more
2025American Journal of Human Genetics7 citations Open access
Semantic Scholar

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