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 of extreme age-related macular degeneration phenotypes.

Molecular vision - 1 Jan 2016

Sardell Rebecca J, Bailey Jessica N Cooke, Courtenay Monique D, Whitehead Patrice, Laux Reneé A, Adams Larry D, Fortun Jorge A, Brantley Milam A, Kovach Jaclyn L, Schwartz Stephen G, Agarwal Anita, Scott William K, Haines Jonathan L, Pericak-Vance Margaret A

Abstract excerpt

PURPOSE: Demographic, environmental, and genetic risk factors for age-related macular degeneration (AMD) have been identified; however, a substantial portion of the variance in AMD disease risk and heritability remains unexplained. To identify AMD risk variants and generate hypotheses for future studies, we performed whole exome sequencing for 75 individuals whose phenotype was not well predicted by their...

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Frequency

Share to Genetic Predisposition to Disease

Share to Genotyping Techniques

Share to Macular Degeneration

Share to Polymorphism, Single Nucleotide

Share to Risk Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 27625572
PMCID: PMC5007100

Genes

MAF
ASRGL1
BSDC1
FBLN7
PDXK

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

Whole exome sequencing of extreme age-related macular degeneration phenotypes.PMID 27625572Read ↗

Whole Genome Sequencing Identifies Novel Common and Low-Frequency Variants Associated With Age-Related Macular Degeneration.Semantic proximity Read ↗

Whole genome sequencing of 4,787 individuals identifies gene-based rare variants in age-related macular degeneration.Semantic proximity Read ↗

Association of Rare Predicted Loss-of-Function Variants in Cellular Pathways with Sub-Phenotypes in Age-Related Macular Degeneration.Semantic proximity Read ↗

Highly penetrant alleles in age-related macular degeneration.Semantic proximity Read ↗

Family-based exome sequencing identifies rare coding variants in age-related macular degeneration.Semantic proximity Read ↗

Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch’s MembraneSemantic proximity Read ↗

Patterns of Gene Expression, Splicing, and Allele-Specific Expression Vary among Macular Tissues and Clinical Stages of Age-Related Macular Degeneration.Semantic proximity Read ↗

Functional genomics in age-related macular degeneration: From genetic associations to understanding disease mechanisms.Semantic proximity Read ↗

Genetic studies of age-related macular degeneration: lessons, challenges, and opportunities for disease management.Semantic proximity Read ↗

Clinical exome sequencing for inherited retinal degenerations at a tertiary care center.Semantic proximity Read ↗

Age-related Macular Degeneration patient deep phenotyping and whole genome sequencing analysis identifies coding variants linking small low-luminance visual deficit to fat storage defectsSemantic proximity Read ↗

Rare predicted loss-of-function and damaging missense variants in CFHR5 associate with protection from age-related macular degeneration.Semantic proximity Read ↗

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