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

Whole-exome sequencing identifies multiple pathogenic variants in a large South Indian family with primary open-angle glaucoma.

Indian journal of ophthalmology - 1 Sept 2021

Shah Mohd Hussain, Kumaran Manojkumar, Chermakani Prakash, Kader Mohideen Abdul, Ramakrishnan R, Krishnadas Subbiah R, Devarajan Bharanidharan, Sundaresan Periasamy

Abstract excerpt

PURPOSE: To identify the pathogenic variants associated with primary open-angle glaucoma (POAG) using whole-exome sequencing (WES) data of a large South Indian family. METHODS: We recruited a large five-generation South Indian family (n = 84) with a positive family history of POAG (n = 19). All study participants had a comprehensive ocular evaluation. We performed WES for 16 samples (nine POAG and seven...

Read the complete abstract on PubMed

Topics

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

Share to Exome Sequencing
Share to Eye Proteins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Glaucoma, Open-Angle

Share to Intraocular Pressure

Share to Mutation

Share to Tonometry, Ocular

Source

Open in PubMed Open full text

Identifiers

PMID: 34427245
DOI: 10.4103/ijo.IJO_3301_20
PMCID: PMC8544095

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Whole-exome sequencing identifies multiple pathogenic variants in a large South Indian family with primary open-angle glaucoma.PMID 34427245Read ↗

Whole Exome Sequencing identifies multiple pathogenic variants in a large south Indian family with Primary Open Angle GlaucomaSemantic proximity Read ↗

Whole-genome sequencing study of 488,888 individuals identifies rare variants and genes associated with glaucomaSemantic proximity Read ↗

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.Semantic proximity Read ↗

Whole-exome sequencing study identifies rare variants and genes associated with intraocular pressure and glaucomaSemantic proximity Read ↗

Whole Exome Sequencing Reveals Novel Candidate Genes in Familial Forms of Glaucomatous Neurodegeneration.Semantic proximity Read ↗

Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma.Semantic proximity Read ↗

Genetic variants associated with primary open angle glaucoma in Indian population.Semantic proximity Read ↗

An Updated Review on the Genetics of Primary Open Angle Glaucoma.Semantic proximity Read ↗

Whole-exome sequencing study identifies novel rare variants and genes associated with intraocular pressure and glaucomaSemantic proximity Read ↗

A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci.Semantic proximity Read ↗

Exploring the Novel Susceptibility Gene Variants for Primary Open-Angle Glaucoma in East Asian Cohorts: The GLAU-GENDISK Study.Semantic proximity Read ↗

A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.Semantic proximity Read ↗

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