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

Genome-Wide Detection of Copy Number Variations in Unsolved Inherited Retinal Disease.

Investigative ophthalmology & visual science - 1 Jan 2017

Huang Xiu-Feng, Mao Jian-Yang, Huang Zhi-Qin, Rao Feng-Qin, Cheng Fei-Fei, Li Fen-Fen, Wang Qing-Feng, Jin Zi-Bing

Abstract excerpt

Purpose: Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of Mendelian disorders that plays a crucial role in the etiology of blindness across the world. Molecular genetic diagnosis of IRD remains extremely complex and challenging because mutations are only detected in 40% to 60% of cases. In this study, we aimed to dissect the contributions of copy number variations (CNVs)...

Read the complete abstract on PubMed

Topics

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

Share to Retinal Diseases
Share to Antigens, Neoplasm

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cell Cycle Proteins

Share to Cytoskeletal Proteins

Share to DNA Copy Number Variations

Share to Extracellular Matrix Proteins

Share to Membrane Transport Proteins

Share to Neoplasm Proteins

Source

Identifiers

PMID: 28118666
DOI: 10.1167/iovs.16-20705

Genes

RIMS2

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

Genome-Wide Detection of Copy Number Variations in Unsolved Inherited Retinal Disease.PMID 28118666Read ↗

Screening copy number variations in 35 unsolved inherited retinal disease families.Semantic proximity Read ↗

Screening Copy Number Variations in 35 unsolved Inherited Retinal Disease FamiliesSemantic proximity Read ↗

Systematic assessment of the contribution of structural variants to inherited retinal diseasesSemantic proximity Read ↗

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerationsSemantic proximity Read ↗

Systematic assessment of the contribution of structural variants to inherited retinal diseases.Semantic proximity Read ↗

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophySemantic proximity Read ↗

Prevalence and properties of intragenic copy-number variation in Mendelian disease genes.Semantic proximity Read ↗

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.Semantic proximity Read ↗

arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAsSemantic proximity Read ↗

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.Semantic proximity Read ↗

Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.Semantic proximity Read ↗

Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genesSemantic proximity Read ↗

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