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

Clinical exome sequencing for inherited retinal degenerations at a tertiary care center.

Scientific reports - 7 Jun 2022

Ganapathi Mythily, Thomas-Wilson Amanda, Buchovecky Christie, Dharmadhikari Avinash, Barua Subit, Lee Winston, Ruan Merry Z C, Soucy Megan, Ragi Sara, Tanaka Joy, Clark Lorraine N, Naini Ali B, Liao Jun, Mansukhani Mahesh, Tsang Stephen, Jobanputra Vaidehi

Abstract excerpt

Inherited retinal degenerations are clinically and genetically heterogeneous diseases characterized by progressive deterioration of vision. This study aimed at assessing the diagnostic yield of exome sequencing (ES) for an unselected cohort of individuals with hereditary retinal disorders. It is a retrospective study of 357 unrelated affected individuals, diagnosed with retinal disorders who underwent clinical...

Topics

ATP-Binding Cassette Transporters
Cell Cycle Proteins
Cone-Rod Dystrophies
Cyclic Nucleotide-Gated Cation Channels
DNA Mutational Analysis
Exome
Eye Proteins
Humans
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Phenotype

Retinal Dystrophies

Retrospective Studies

Tertiary Care Centers

Source

Open in PubMed Open full text

Identifiers

PMID: 35672425
DOI: 10.1038/s41598-022-13026-2
PMCID: PMC9174483

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical exome sequencing for inherited retinal degenerations at a tertiary care center.PMID 35672425Read ↗

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

Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders.Semantic proximity Read ↗

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

Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.Semantic proximity Read ↗

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.Semantic proximity Read ↗

Whole-Exome Sequencing in 168 Korean Patients with Inherited Retinal DegenerationSemantic proximity Read ↗

Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal GenesSemantic proximity Read ↗

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

Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degenerationSemantic proximity Read ↗

Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.Semantic proximity Read ↗

Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variantsSemantic proximity Read ↗

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.Semantic proximity Read ↗

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