ArticleAdvances in experimental medicine and biology2014
Application of next-generation sequencing to identify genes and mutations causing autosomal dominant retinitis pigmentosa (adRP).
Article in Advances in experimental medicine and biology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 47 citations in OpenAlex.
- A Novel Autosomal Recessive Variant of theDiagnostics (Basel, Switzerland) · 2022Article
- Variants identified by next-generation sequencing cause endoplasmic reticulum stress in Rhodopsin-associated retinitis pigmentosa.BMC ophthalmology · 2021Article
- Detection and validation of novel mutations in MERTK in a simplex case of retinal degeneration using WGS and hiPSC-RPEs model.Human mutation · 2021Article
- Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.Experimental eye research · 2020Review
- Variant Profiling of a Large Cohort of 138 Chinese Families With Autosomal Dominant Retinitis Pigmentosa.Frontiers in cell and developmental biology · 2020Article
- A new rhodopsin R135W mutation induces endoplasmic reticulum stress and apoptosis in retinal pigment epithelial cells.Journal of cellular physiology · 2019Article
- Autosomal dominant retinitis pigmentosa rhodopsin mutant Q344X drives specific alterations in chromatin complex gene transcription.Molecular vision · 2018Article
- High prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa.Scientific reports · 2017Article
- Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.PloS one · 2017Article
- Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing.Physiological genomics · 2016Article
- Efficacy of Column Scatter Plots for Presenting Retinitis Pigmentosa Phenotypes in a Japanese Cohort.Translational vision science & technology · 2016Article
- Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis.PloS one · 2016Article
- Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP).Advances in experimental medicine and biology · 2016Article
- Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.Investigative ophthalmology & visual science · 2015Article
- Genome Modeling System: A Knowledge Management Platform for Genomics.PLoS computational biology · 2015Article
- A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.Investigative ophthalmology & visual science · 2014Article
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Authors and funding
13 authors at 6 institutions in 2 countries.
Funding
Abstract
The goal of our research is to identify genes and mutations causing autosomal dominant retinitis pigmentosa (adRP). For this purpose we established a cohort of more than 250 independently ascertained families with adRP in the Houston Laboratory for Molecular Diagnosis of Inherited Eye Diseases. Affected members of each family were screened for disease-causing mutations in genes and gene regions that are commonly associated with adRP. By this approach, we detected mutations in 65 % of the families, leaving 85 families that are likely to harbor mutations outside of the "common" regions or in novel genes. Of these, 32 families were tested by several types of next-generation sequencing (NGS), including (a) targeted polymerase chain reaction (PCR) NGS, (b) whole exome NGS, and (c) targeted retinal-capture NGS. We detected mutations in 11 of these families (31 %) bringing the total detected in the adRP cohort to 70 %. Several large families have also been tested for linkage using Afymetrix single nucleotide polymorphism (SNP) arrays.
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