Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies.

BioMed research international - 1 Jan 2013

Schorderet Daniel F, Iouranova Alexandra, Favez Tatiana, Tiab Leila, Escher Pascal

Abstract excerpt

The molecular diagnosis of retinal dystrophies is difficult because of the very important number of genes implicated and is rarely helped by genotype-phenotype correlations. This prompted us to develop IROme, a custom designed in solution-based targeted exon capture assay (SeqCap EZ Choice library, Roche NimbleGen) for 60 retinitis pigmentosa-linked genes and three candidate genes (942 exons). Pyrosequencing was...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA Mutational Analysis
Share to Exons
Share to ABCA4 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to PRPF31 gene

Share to RHO gene

Share to Mutation

Share to Polymerase Chain Reaction

Share to Retinitis Pigmentosa

Source

Open in PubMed Open full text

Identifiers

PMID: 23484092
DOI: 10.1155/2013/198089
PMCID: PMC3591198

Genes

ABCA4
CNGB1
PROM1
PRPF31
PRPF8
PRPH2
RHO
TULP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies.PMID 23484092Read ↗

Discovery of rare and novel variants in inherited retinal disorders: Exome sequencing analysis of six Iranian families.Semantic proximity Read ↗

Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.Semantic proximity Read ↗

Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing.Semantic proximity Read ↗

Scaling New Heights in the Genetic Diagnosis of Inherited Retinal Dystrophies.Semantic proximity Read ↗

Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.Semantic proximity Read ↗

Clinical Exome Sequencing for Inherited Retinal Disorders at a Tertiary Care CenterSemantic proximity Read ↗

Clinical and analytical validation of an 82-gene comprehensive genome-profiling panel for identifying and interpreting variants responsible for inherited retinal dystrophies.Semantic proximity Read ↗

High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies.Semantic proximity Read ↗

Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.Semantic proximity Read ↗

18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.Semantic proximity Read ↗

Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosaSemantic proximity Read ↗

Clinical exome sequencing for inherited retinal degenerations at a tertiary care center.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.