ArticleGenes2018
Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study.
Article in Genes, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
46 citing papers in PubMed, 83 citations in OpenAlex.
- Trial
- Genetic characterization of inherited retinal dystrophy in a Northwestern Chinese cohort: A single-center study over a 5-year period in Shaanxi, China.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2026Article
- Restoring Sight: The Journey of AIPL1 from Discovery to Therapy.International journal of molecular sciences · 2025Review
- Detailed Comparison Between Two Main Phenotypes of CRB1-Related Retinal Dystrophy, Pan-retinopathy and Maculopathy.Investigative ophthalmology & visual science · 2025Article
- Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.European journal of human genetics : EJHG · 2025Article
- Review
- NGS Approaches in Clinical Diagnostics: From Workflow to Disease-Specific Applications.International journal of molecular sciences · 2025Review
- One down but many more to go: the state of gene therapy for inherited retinal disease.Regenerative medicine · 2025Review
- Article
- Variants in CFAP410 cause a range of retinal and skeletal phenotypes.NPJ genomic medicine · 2025Article
- Reliability of clinical impressions and optimal genetic diagnostic strategies of heritable connective tissue disorders with ocular involvement in a large Chinese cohort.Human genomics · 2025Article
- Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.NPJ genomic medicine · 2025Article
- Genotype-phenotype correlations for 17 Chinese families with inherited retinal dystrophies due to homozygous variants.Scientific reports · 2025Article
- A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.Journal of translational medicine · 2025Article
- Deciphering the genetic basis of inherited retinal dystrophies via whole-exome sequencing in a Turkish cohort.Molecular vision · 2025Article
- Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.NPJ genomic medicine · 2024Article
- Clinical and genetic features in autosomal recessive bestrophinopathy in Chinese cohort.BMC ophthalmology · 2024Article
- Clinical exome analysis and targeted gene repair of the c.1354dupT variant in iPSC lines from patients with PROM1-related retinopathies exhibiting diverse phenotypes.Stem cell research & therapy · 2024Article
- Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences.International journal of molecular sciences · 2024Article
- Based on whole-exome sequencing to explore the rule of Herceptin and TKI resistance in breast cancer patients.BMC medical genomics · 2024Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited retinal dystrophies (IRDs) are a group of clinically and genetically heterogeneous diseases involving more than 280 genes and no less than 20 different clinical phenotypes. In this study, our aims were to identify the disease-causing gene variants of 319 Chinese patients with IRD, and compare the pros and cons of targeted panel sequencing and whole exome sequencing (WES). Patients were assigned for analysis with a hereditary eye disease enrichment panel (HEDEP) or WES examination based on time of recruitment. This HEDEP was able to capture 441 hereditary eye disease genes, which included 291 genes related to IRD. As
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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.