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

Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing.

Investigative ophthalmology & visual science - 25 Jan 2011

Bowne Sara J, Sullivan Lori S, Koboldt Daniel C, Ding Li, Fulton Robert, Abbott Rachel M, Sodergren Erica J, Birch David G, Wheaton Dianna H, Heckenlively John R, Liu Qin, Pierce Eric A, Weinstock George M, Daiger Stephen P

Abstract excerpt

PURPOSE: To determine whether massively parallel next-generation DNA sequencing offers rapid and efficient detection of disease-causing mutations in patients with monogenic inherited diseases. Retinitis pigmentosa (RP) is a challenging application for this technology because it is a monogenic disease in individuals and families but is highly heterogeneous in patient populations. RP has multiple patterns of...

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 Genes, Dominant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, X-Linked

Share to Mutation

Share to Pedigree

Share to Polymerase Chain Reaction

Share to Retinitis Pigmentosa

Share to Sequence Analysis, DNA

Source

Open in PubMed Open full text

Identifiers

PMID: 20861475
DOI: 10.1167/iovs.10-6180
PMCID: PMC3053293

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing.PMID 20861475Read ↗

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

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

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

Genes and mutations causing retinitis pigmentosa.Semantic proximity Read ↗

Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa.Semantic proximity Read ↗

Clinical sequencing of the retinitis pigmentosa gene RPGR in over 1,000 cases of vision loss.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 ↗

Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations.Semantic proximity Read ↗

Next-generation sequencing and its application in diagnosis of retinitis pigmentosa.Semantic proximity Read ↗

Detection of novel genetic variation in autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

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

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