ReviewGenome medicine2013
Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing.
Review in Genome medicine, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed.
- From Pathophysiology to Innovative Therapies in Eye Diseases: A Brief Overview.International journal of molecular sciences · 2025Review
- Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.Investigative ophthalmology & visual science · 2022Article
- A NovelFrontiers in cell and developmental biology · 2021Article
- De Novo Assembly-Based Analysis ofGenes · 2020Article
- Small-Medium Extracellular Vesicles and Their miRNA Cargo in Retinal Health and Degeneration: Mediators of Homeostasis, and Vehicles for Targeted Gene Therapy.Frontiers in cellular neuroscience · 2020Article
- IL-1 Family Members Mediate Cell Death, Inflammation and Angiogenesis in Retinal Degenerative Diseases.Frontiers in immunology · 2019Review
- Systematic review of differential methylation in rare ophthalmic diseases.BMJ open ophthalmology · 2019Review
- Transcriptome profiling of NIH3T3 cell lines expressing opsin and the P23H opsin mutant identifies candidate drugs for the treatment of retinitis pigmentosa.Pharmacological research · 2017Article
- Investigation of associations ofClinical ophthalmology (Auckland, N.Z.) · 2017Article
- Next generation sequencing technology and genomewide data analysis: Perspectives for retinal research.Progress in retinal and eye research · 2016Review
- Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.Investigative ophthalmology & visual science · 2016Article
- Identification of a rhodopsin gene mutation in a large family with autosomal dominant retinitis pigmentosa.Scientific reports · 2016Article
- Article
- Vision from next generation sequencing: multi-dimensional genome-wide analysis for producing gene regulatory networks underlying retinal development, aging and disease.Progress in retinal and eye research · 2015Review
- Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Review
- Biology and therapy of inherited retinal degenerative disease: insights from mouse models.Disease models & mechanisms · 2015Review
- Application of quantitative trait locus mapping and transcriptomics to studies of the senescence-accelerated phenotype in rats.BMC genomics · 2014Article
- Induced pluripotent stem cells and derivative photoreceptor precursors as therapeutic cells for retinal degenerations.Tzu chi medical journalReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
Abstract
Inherited retinal degenerative diseases (RDDs) display wide variation in their mode of inheritance, underlying genetic defects, age of onset, and phenotypic severity. Molecular mechanisms have not been delineated for many retinal diseases, and treatment options are limited. In most instances, genotype-phenotype correlations have not been elucidated because of extensive clinical and genetic heterogeneity. Next-generation sequencing (NGS) methods, including exome, genome, transcriptome and epigenome sequencing, provide novel avenues towards achieving comprehensive understanding of the genetic architecture of RDDs. Whole-exome sequencing (WES) has already revealed several new RDD genes, whereas RNA-Seq and ChIP-Seq analyses are expected to uncover novel aspects of gene regulation and biological networks that are involved in retinal development, aging and disease. In this review, we focus on the genetic characterization of retinal and macular degeneration using NGS technology and discuss the basic framework for further investigations. We also examine the challenges of NGS application in clinical diagnosis and management.
Identifiers
What OpenQuestion holds
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.