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

Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

PloS one - 1 Jan 2015

Yang Liping, Cui Hui, Yin Xiaobei, Dou Hongliang, Zhao Lin, Chen Ningning, Zhang Jinlu, Zhang Huirong, Li Genlin, Ma Zhizhong

Abstract excerpt

Retinitis pigmentosa (RP) is the most common inherited retinal disease. It is a clinically and genetically heterogeneous disorder, which is why it is particularly challenging to diagnose. The aim of this study was to establish a targeted next-generation sequencing (NGS) approach for the comprehensive, rapid, and cost-effective clinical molecular diagnosis of RP. A specific hereditary eye disease enrichment panel...

Read the complete abstract on PubMed

Topics

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

Share to Cohort Studies
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family Health

Share to Molecular Diagnostic Techniques

Share to Reproducibility of Results

Share to Retinitis Pigmentosa

Share to Sensitivity and Specificity

Source

Open in PubMed Open full text

Identifiers

PMID: 26496393
DOI: 10.1371/journal.pone.0140684
PMCID: PMC4619688

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

Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.PMID 26496393Read ↗

Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa.Semantic proximity Read ↗

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

Genetic and clinical findings of panel-based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa.Semantic proximity Read ↗

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

Whole-exome sequencing identified genes known to be responsible for retinitis pigmentosa in 28 Chinese families.Semantic proximity Read ↗

Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.Semantic proximity Read ↗

Development of a molecular diagnostic test for Retinitis Pigmentosa in the Japanese population.Semantic proximity Read ↗

Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non-syndromic inherited retinal dystrophies.Semantic proximity Read ↗

NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.Semantic proximity Read ↗

Whole exome sequencing reveals genetic predisposition in a large family with retinitis pigmentosa.Semantic proximity Read ↗

Genetic and clinical analysis in Chinese patients with retinitis pigmentosa caused by EYS mutations.Semantic proximity Read ↗

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