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

The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa.

BMC genomics - 9 Jul 2015

Yoon Chang-Ki, Kim Nayoung K D, Joung Je-Gun, Shin Joo Young, Park Jung Hyun, Eum Hye-Hyun, Lee Hae-Ock, Park Woong-Yang, Yu Hyeong Gon

Abstract excerpt

BACKGROUND: Identification of the causative genes of retinitis pigmentosa (RP) is important for the clinical care of patients with RP. However, a comprehensive genetic study has not been performed in Korean RP patients. Moreover, the genetic heterogeneity found in sensorineural genetic disorders makes identification of pathogenic mutations challenging. Therefore, high throughput genetic testing using massively...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Exome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to High-Throughput Nucleotide Sequencing

Share to Pedigree

Share to Republic of Korea

Share to Retinitis Pigmentosa

Share to Sequence Analysis, DNA

Source

Open in PubMed Open full text

Identifiers

PMID: 26155838
DOI: 10.1186/s12864-015-1723-x
PMCID: PMC4496857

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

The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa.PMID 26155838Read ↗

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

Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.Semantic proximity Read ↗

Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa.Semantic proximity Read ↗

Next-generation genetic testing for retinitis pigmentosa.Semantic proximity Read ↗

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.Semantic proximity Read ↗

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

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

Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.Semantic proximity Read ↗

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

Whole exome sequencing reveals genetic predisposition in a large family with 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 ↗

Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing.Semantic proximity Read ↗

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