ArticleGenes2018
Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes.
Article in Genes, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it.
- A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.BMC ophthalmology · 2024Pooled it
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- Transcriptional downregulation of rhodopsin is associated with desensitization of rods to light-induced damage in a murine model of retinitis pigmentosa.Human molecular genetics · 2025Article
- Anterograde trafficking of Toll-like receptors requires the cargo sorting adaptors TMED-2 and 7.Traffic (Copenhagen, Denmark) · 2023Article
- The rod synapse in aging wildtype and Dscaml1 mutant mice.PloS one · 2023Article
- Student remote and distance research in neuroanatomy: Mapping Dscaml1 expression with a LacZ gene trap in mouse brain.Anatomia, histologia, embryologia · 2023Article
- Base and Prime Editing in the Retina-From Preclinical Research toward Human Clinical Trials.International journal of molecular sciences · 2022Review
- Article
- The Role of Metalloproteinases and Their Tissue Inhibitors on Ocular Diseases: Focusing on Potential Mechanisms.International journal of molecular sciences · 2022Review
- MutatedInternational journal of molecular sciences · 2021Article
- Metabolism in the Zebrafish Retina.Journal of developmental biology · 2021Review
- The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss.International journal of molecular sciences · 2021Review
- Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar.European journal of human genetics : EJHG · 2020Article
- Silencing of DHX32 increases the proliferation of liver cancer cells.Translational cancer research · 2020Article
- Extending the spectrum of CLRN1- and ABCA4-associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing.Molecular genetics & genomic medicine · 2020Article
- Article
- Review
- Molecular characterization of the human lens epithelium-derived cell line SRA01/04.Experimental eye research · 2019Article
- Article
Corrections and comments
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Authors and funding
17 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited retinal diseases (IRDs) display an enormous genetic heterogeneity. Whole exome sequencing (WES) recently identified genes that were mutated in a small proportion of IRD cases. Consequently, finding a second case or family carrying pathogenic variants in the same candidate gene often is challenging. In this study, we searched for novel candidate IRD gene-associated variants in isolated IRD families, assessed their causality, and searched for novel genotype-phenotype correlations. Whole exome sequencing was performed in 11 probands affected with IRDs. Homozygosity mapping data was available for five cases. Variants with minor allele frequencies ≤ 0.5% in public databases were selected as candidate disease-causing variants. These variants were ranked based on their: (a) presence in a gene that was previously implicated in IRD; (b) minor allele frequency in the Exome Aggregation Consortium database (ExAC); (c) in silico pathogenicity assessment using the combined annotation dependent depletion (CADD) score; and (d) interaction of the corresponding protein with known IRD-associated proteins. Twelve unique variants were found in 11 different genes in 11 IRD probands. Novel autosomal recessive and dominant inheritance patterns were found for variants in Small Nuclear Ribonucleoprotein U5 Subunit 200 (
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