ArticleProceedings of the National Academy of Sciences of the United States of America2017
Trio-based exome sequencing arrests de novo mutations in early-onset high myopia.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers, 1 of them a synthesis that pooled it.
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Who cites it
54 citing papers in PubMed, 1 synthesis or guideline pooled it, 112 citations in OpenAlex.
- Implantable collamer lens versus small incision lenticule extraction for high myopia correction: A systematic review and meta-analysis.BMC ophthalmology · 2021Pooled it
- Prevalence and Possible Factors of Myopia in Norwegian Adolescents.Scientific reports · 2018Trial
- Whole-exome sequencing for the genetic diagnosis of early-onset high myopia and associated hereditary eye disorders.BMC medical genomics · 2026Article
- Genetic Architecture of Myopia and Its Implications for Risk Stratification and Prognosis.Diagnostics (Basel, Switzerland) · 2026Review
- P4HA2 Participates in Pathogenesis of Refractive Error by Regulating Collagen Posttranslational Modification and Extracellular Matrix Balance.Human mutation · 2026Article
- Systematic evaluation of de novo mutation calling tools using whole genome sequencing data.Briefings in bioinformatics · 2025Article
- Genome-wide association study identified novel loci and gene-environment interaction for refractive error in children.NPJ genomic medicine · 2025Article
- Clinical and Molecular Landscape of GLRA2 in X-Linked Early-Onset High Myopia.Investigative ophthalmology & visual science · 2025Article
- Article
- Early-Onset Cone Photoreceptor Degeneration Is Associated With High Myopia inJournal of ophthalmology · 2025Article
- Exome-wide genetic risk score (ExGRS) to predict high myopia across multi-ancestry populations.Communications medicine · 2024Article
- Trio-based whole-exome sequencing reveals mutations in early-onset high myopia.BMJ open ophthalmology · 2024Article
- Whole-Exome Sequencing Among School-Aged Children With High Myopia.JAMA network open · 2023Article
- Defect ofInternational journal of molecular sciences · 2023Article
- A de novo missense mutation in MPP2 confers an increased risk of Vogt-Koyanagi-Harada disease as shown by trio-based whole-exome sequencing.Cellular & molecular immunology · 2023Article
- A Genome-Wide Association Study for Susceptibility to Axial Length in Highly Myopic Eyes.Phenomics (Cham, Switzerland) · 2023Article
- Whole Exome-Trio Analysis Reveals Rare Variants Associated with Congenital Pouch Colon.Children (Basel, Switzerland) · 2023Article
- Familial Whole Exome Sequencing Study of 30 Families With Early-Onset High Myopia.Investigative ophthalmology & visual science · 2023Article
- Mutational investigation of 17 causative genes in a cohort of 113 families with nonsyndromic early-onset high myopia in northwestern China.Molecular genetics and genomics : MGG · 2023Article
- Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects.Genome biology · 2023Article
Corrections and comments
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Authors and funding
24 authors at 5 institutions in 2 countries.
Funding
Abstract
The etiology of the highly myopic condition has been unclear for decades. We investigated the genetic contributions to early-onset high myopia (EOHM), which is defined as having a refraction of less than or equal to -6 diopters before the age of 6, when children are less likely to be exposed to high educational pressures. Trios (two nonmyopic parents and one child) were examined to uncover pathogenic mutations using whole-exome sequencing. We identified parent-transmitted biallelic mutations or de novo mutations in as-yet-unknown or reported genes in 16 probands. Interestingly, an increased rate of de novo mutations was identified in the EOHM patients. Among the newly identified candidate genes, a
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