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

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

Investigative ophthalmology & visual science - 1 Feb 2024

Chen Chong, An Gang, Yu Xiaoguang, Wang Siyu, Lin Peng, Yuan Jian, Zhuang Youyuan, Lu Xiaoyan, Bai Yu, Zhang Guosi, Su Jianzhong, Qu Jia, Xu Liangde, Wang Hong

Abstract excerpt

Purpose: This observational study aimed to identify mutations in monogenic syndromic high myopia (msHM) using data from reported samples (n = 9370) of the Myopia Associated Genetics and Intervention Consortium (MAGIC) project. Methods: The targeted panel containing 298 msHM-related genes was constructed and screening of clinically actionable variants was performed based on whole exome sequencing. Capillary...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Frameshift Mutation

Share to Frizzled Receptors

Share to Myopia

Share to Pedigree

Share to Retinal Dystrophies

Share to TRPM Cation Channels

Source

Open in PubMed Open full text

Identifiers

PMID: 38315492
DOI: 10.1167/iovs.65.2.9
PMCID: PMC10851780

Genes

CACNA1F
COL2A1
FBN1
FZD4
GJA8
HSF4
MIP
TEK
TRPM1

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

Screening Mutations of the Monogenic Syndromic High Myopia by Whole Exome Sequencing From MAGIC Project.PMID 38315492Read ↗

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

Familial Whole Exome Sequencing Study of 30 Families 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 ↗

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

Mutational investigation of 17 causative genes in a cohort of 113 families with nonsyndromic early-onset high myopia in northwestern China.Semantic proximity Read ↗

Whole-exome sequencing on 6215 school-aged children reveals the importance of genetic testing in high myopiaSemantic proximity Read ↗

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

Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia.Semantic 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 ↗

Novel Myopia Genes and Pathways Identified From Syndromic Forms of Myopia.Semantic proximity Read ↗

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

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