ArticleScientific reports2015
Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.
Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
What it found
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Who cites it
50 citing papers in PubMed, 79 citations in OpenAlex.
- Whole-Exome Sequencing in a Consanguinity-Enriched South Indian Retinitis Pigmentosa Cohort: Diagnostic Yield and Molecular Spectrum.Ophthalmology science · 2026Article
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- Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.NPJ genomic medicine · 2025Article
- Bietti crystalline corneoretinal dystrophy: Advances in understanding and gene therapeutic approaches.Molecular vision · 2025Review
- Deciphering the genetic basis of inherited retinal dystrophies via whole-exome sequencing in a Turkish cohort.Molecular vision · 2025Article
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- Genome wide association study and genomic risk prediction of age related macular degeneration in Israel.Scientific reports · 2024Article
- Whole-Exome Sequencing in Turkish Patients with Inherited Retinal Dystrophies Reveals Novel Variants in Ten Genes.Molecular syndromology · 2024Article
- Simultaneous Detection of Common Founder Mutations Using a Cost-Effective Deep Sequencing Panel.Genes · 2024Article
- An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of CYP4V2 as the Cause of Bietti Crystalline Dystrophy.Translational vision science & technology · 2023Article
- Interactions between C8orf37 and FAM161A, Two Ciliary Proteins Essential for Photoreceptor Survival.International journal of molecular sciences · 2022Article
- A Novel Autosomal Recessive Variant of theDiagnostics (Basel, Switzerland) · 2022Article
- Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.Orphanet journal of rare diseases · 2022Review
- Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing.International journal of molecular sciences · 2022Article
- Novel homozygous mutations in the transcription factorMolecular vision · 2022Article
- A Novel Pathogenic Variant in the RDH5 Gene in a Patient with Fundus Albipunctatus and Severe Macular Atrophy.Case reports in genetics · 2022Article
- Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.PLoS genetics · 2021Article
- Do second generation sequencing techniques identify documented genetic markers for neonatal diabetes mellitus?Heliyon · 2021Review
- Article
Corrections and comments
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Authors and funding
23 authors at 7 institutions in 3 countries.
Funding
Abstract
Whole exome sequencing (WES) is a powerful technique for identifying sequence changes in the human genome. The goal of this study was to delineate the genetic defects in patients with inherited retinal diseases (IRDs) using WES. WES was performed on 90 patient DNA samples from 68 families and 226 known genes for IRDs were analyzed. Sanger sequencing was used to validate potential pathogenic variants that were also subjected to segregation analysis in families. Thirty-three causative mutations (19 novel and 14 known) in 25 genes were identified in 33 of the 68 families. The vast majority of mutations (30 out of 33) have not been reported in the Israeli and the Palestinian populations. Nine out of the 33 mutations were detected in additional families from the same ethnic population, suggesting a founder effect. In two families, identified phenotypes were different from the previously reported clinical findings associated with the causative gene. This is the largest genetic analysis of IRDs in the Israeli and Palestinian populations to date. We also demonstrate that WES is a powerful tool for rapid analysis of known disease genes in large patient cohorts.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.