ArticleScientific reports2016
Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Antipsychotic Drugs and the Risk of Diabetic Complications: A Systematic Review of Observational Studies.Journal of clinical medicine · 2026Review
- Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.European journal of human genetics : EJHG · 2025Article
- Clinical exome sequencing facilitates the understanding of genetic heterogeneity in Leber congenital amaurosis patients with variable phenotype in southern India.Eye and vision (London, England) · 2021Article
- Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.BMC medical genomics · 2021Article
- Comparison of TCGA and GENIE genomic datasets for the detection of clinically actionable alterations in breast cancer.Scientific reports · 2019Article
- Investigating the disease association of USH2A p.C759F variant by leveraging large retinitis pigmentosa cohort data.Ophthalmic genetics · 2018Article
- Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.Scientific reports · 2018Article
- The phenotypic variability of HK1-associated retinal dystrophy.Scientific reports · 2017Article
- Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.American journal of human genetics · 2017Article
- SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data.BMC bioinformatics · 2017Article
- Article
- A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.Genetic testing and molecular biomarkers · 2017Article
- Diagnosis of a mild peroxisomal phenotype with next-generation sequencing.Molecular genetics and metabolism reports · 2016Article
- Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands.Scientific reports · 2016Article
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10 authors.
Funding
Abstract
Inherited retinal disease (IRD) is a category of genetic disorders affecting retina. Understanding the molecular basis of IRD is vital for clinical and genetic classification of patients. Uyghur people is an isolated ethnic group mainly residing in northwestern China with genetic admixture from Europeans and East Asians. The genetic etiology of IRD in this specific population still remains unknown. Here, by next-generation sequencing (NGS), we screened mutations in over 200 known retinal disease genes in a cohort of 12 unrelated Uyghur IRD probands. Out of the 12 probands, six are solved with high confidence, two with low confidence, while the remaining four are unsolved. We identified known disease-causing alleles in this cohort that suggest ancient Uyghur migration and also discovered eight novel disease-associated variants. Our results showed NGS-based mutation screening as a reliable approach for molecular diagnosis. In addition, this approach can also be applied to reveal the genetic history of a specific ethnic group.
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