ArticleGenome research2013
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.
Article in Genome research, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 154 papers, 1 of them a synthesis that pooled it.
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Who cites it
154 citing papers in PubMed, 1 synthesis or guideline pooled it, 280 citations in OpenAlex.
- The genetics of rod-cone dystrophy in Arab countries: a systematic review.European journal of human genetics : EJHG · 2021Pooled it
- Recovery of cone-mediated vision in Lebercilin associated retinal ciliopathy after gene therapy: One-year results of a phase I/II trial.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Trial
- Trial
- Review
- A brief history of the human liver peroxisome.Histochemistry and cell biology · 2026Review
- Roles of ER Membrane Protein Complex in Protein Biogenesis and Quality Control in the Lung and Beyond.Cell proliferation · 2026Review
- Retinal Dystrophy and Leukodystrophy Caused by ACBD5 Deficiency in Five Omani Patients: A Case Series.Oman medical journal · 2026Article
- Ciliary Defects in Inherited Retinal Diseases.Advanced genetics (Hoboken, N.J.) · 2026Review
- Long-read Sequencing in Inherited Retinal Dystrophies: A Systematic Review.Ophthalmology science · 2026Review
- Local accumulation of very long-chain PUFA in plexiform layers associates with retinal dysfunction in a mouse model of peroxisomal ACBD5-deficiency.Cellular and molecular life sciences : CMLS · 2025Article
- Preclinical Study on the Long-Term Efficacy and Safety of Sustained-Release Gas6 Liposomes Combined With MERTK Gene Therapy for Retinitis Pigmentosa.Translational vision science & technology · 2025Article
- Review
- Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population.Scientific reports · 2025Article
- Variants in CFAP410 cause a range of retinal and skeletal phenotypes.NPJ genomic medicine · 2025Article
- Genomics of rare diseases in the Greater Middle East.Nature genetics · 2025Review
- Disorders of fatty acid homeostasis.Journal of inherited metabolic disease · 2025Review
- The neurological pathology of peroxisomal ACBD5 deficiency - lessons from patients and mouse models.Frontiers in molecular neuroscience · 2025Review
- Article
- A novel homozygous nonsense variant inOphthalmic genetics · 2024Article
- Expanding the genotypic and phenotypic spectra with a novel variant in the ciliopathy gene,Ophthalmic genetics · 2024Article
94 more citing papers are in PubMed but not listed here.
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Authors and funding
21 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Retinal dystrophy (RD) is a heterogeneous group of hereditary diseases caused by loss of photoreceptor function and contributes significantly to the etiology of blindness globally but especially in the industrialized world. The extreme locus and allelic heterogeneity of these disorders poses a major diagnostic challenge and often impedes the ability to provide a molecular diagnosis that can inform counseling and gene-specific treatment strategies. In a large cohort of nearly 150 RD families, we used genomic approaches in the form of autozygome-guided mutation analysis and exome sequencing to identify the likely causative genetic lesion in the majority of cases. Additionally, our study revealed six novel candidate disease genes (C21orf2, EMC1, KIAA1549, GPR125, ACBD5, and DTHD1), two of which (ACBD5 and DTHD1) were observed in the context of syndromic forms of RD that are described for the first time.
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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.