ArticlePhysiological genomics2017
Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.
Article in Physiological genomics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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The trial behind it
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Who cites it
18 citing papers in PubMed, 34 citations in OpenAlex.
- Trial
- Identifying a role for oxytosis/ferroptosis in Pde6b-associated retinitis pigmentosa.Experimental eye research · 2025Article
- Rod-sparing in a bardet-biedl syndrome patient with mutations in the ARL6 gene.Documenta ophthalmologica. Advances in ophthalmology · 2024Article
- Article
- Inherited Retinal Degeneration Caused by Dehydrodolichyl Diphosphate Synthase Mutation-Effect of anInternational journal of molecular sciences · 2024Article
- Avidity sequencing of whole genomes from retinal degeneration pedigrees identifies causal variants.PloS one · 2024Article
- Perspectives on Retinal Dolichol Metabolism, and Visual Deficits in Dolichol Metabolism-Associated Inherited Disorders.Advances in experimental medicine and biology · 2023Review
- Article
- Vertebrate Animal Models of RP59: Current Status and Future Prospects.International journal of molecular sciences · 2022Review
- RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study.Investigative ophthalmology & visual science · 2022Article
- Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.PLoS genetics · 2021Article
- Retinal Degeneration Caused by Rod-Specific Dhdds Ablation Occurs without Concomitant Inhibition of Protein N-Glycosylation.iScience · 2020Article
- Article
- Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa.Molecular genetics & genomic medicine · 2020Article
- Long-Term Follow-Up of Retinal Degenerations Associated WithTranslational vision science & technology · 2019Article
- Cone Spacing Correlates With Retinal Thickness and Microperimetry in Patients With Inherited Retinal Degenerations.Investigative ophthalmology & visual science · 2019Article
- Relationship Between Foveal Cone Structure and Visual Acuity Measured With Adaptive Optics Scanning Laser Ophthalmoscopy in Retinal Degeneration.Investigative ophthalmology & visual science · 2018Article
- Retinal phenotypic characterization of patients withMolecular vision · 2018Article
Corrections and comments
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Authors and funding
18 authors at 7 institutions in 2 countries.
Funding
Abstract
Our purpose was to identify causative mutations and characterize the phenotype associated with the genotype in 10 unrelated families with autosomal recessive retinal degeneration. Ophthalmic evaluation and DNA isolation were carried out in 10 pedigrees with inherited retinal degenerations (IRD). Exomes of probands from eight pedigrees were captured using Nimblegen V2/V3 or Agilent V5+UTR kits, and sequencing was performed on Illumina HiSeq. The
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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.