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

Exome Sequence Analysis of 14 Families With High Myopia.

Investigative ophthalmology & visual science - 1 Apr 2017

Kloss Bethany A, Tompson Stuart W, Whisenhunt Kristina N, Quow Krystina L, Huang Samuel J, Pavelec Derek M, Rosenberg Thomas, Young Terri L

Abstract excerpt

Purpose: To identify causal gene mutations in 14 families with autosomal dominant (AD) high myopia using exome sequencing. Methods: Select individuals from 14 large Caucasian families with high myopia were exome sequenced. Gene variants were filtered to identify potential pathogenic changes. Sanger sequencing was used to confirm variants in original DNA, and to test for disease cosegregation in additional family...

Read the complete abstract on PubMed

Topics

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

Share to DNA
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Proteins

Share to Genetic Predisposition to Disease

Share to Genome-Wide Association Study

Share to Myopia

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 28384719
DOI: 10.1167/iovs.16-20883
PMCID: PMC5382835

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

Exome Sequence Analysis of 14 Families With High Myopia.PMID 28384719Read ↗

Familial Whole Exome Sequencing Study of 30 Families With Early-Onset High Myopia.Semantic proximity Read ↗

Whole-exome sequencing for the genetic diagnosis of early-onset high myopia and associated hereditary eye disorders.Semantic proximity Read ↗

Whole exome sequencing of known eye genes reveals genetic causes for high myopiaSemantic proximity Read ↗

Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes.Semantic proximity Read ↗

Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study.Semantic proximity Read ↗

Trio-based whole-exome sequencing reveals mutations in early-onset high myopia.Semantic proximity Read ↗

Mutation Screening of ARR3, CACNA1F, P4HA2, TRPM1, COL2A1, COL11A1 and PAX6 in a Chinese Cohort of 37 Patients with Early-Onset High Myopia.Semantic proximity Read ↗

Analysis of gene mutation spectrum for early-onset high myopia based on whole-exome sequencing.Semantic proximity Read ↗

Mutation screening of 17 candidate genes in a cohort of 67 probands with early-onset high myopia.Semantic proximity Read ↗

Exome sequencing identifies ZNF644 mutations in high myopia.Semantic proximity Read ↗

Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families.Semantic proximity Read ↗

Screening Mutations of the Monogenic Syndromic High Myopia by Whole Exome Sequencing From MAGIC Project.Semantic proximity Read ↗

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