ArticleInternational journal of molecular sciences2020
Application of WES Towards Molecular Investigation of Congenital Cataracts: Identification of Novel Alleles and Genes in a Hospital-Based Cohort of South India.
Article in International journal of molecular sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05782452 (Genetic Diagnosis and Phenotype-genotype Correlation in a Large Chinese Cohort of Congenital Cataracts), which is not on this map. Cited by 10 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Genetic Diagnosis and Phenotype-genotype Correlation in a Large Chinese Cohort of Congenital Cataracts
Who cites it
10 citing papers in PubMed, 2 syntheses or guidelines pooled it, 18 citations in OpenAlex.
- Genetic aetiology of global developmental delay and intellectual disability in Africa: a scoping review.Frontiers in genetics · 2026Pooled it
- A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects.Nature communications · 2021Pooled it
- Genetic analysis and clinical characteristics of sporadic and familial congenital cataracts in southern Chinese families.Frontiers in genetics · 2026Article
- Abnormal function ofInternational journal of ophthalmology · 2024Article
- Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts.International journal of molecular sciences · 2023Article
- High-Throughput Transcriptomics ofCells · 2023Article
- Whole-Exome Sequencing and Copy Number Analysis in a Patient with Warburg Micro Syndrome.Genes · 2022Article
- Case Report: AFrontiers in genetics · 2022Article
- RNA-binding proteins and post-transcriptional regulation in lens biology and cataract: Mediating spatiotemporal expression of key factors that control the cell cycle, transcription, cytoskeleton and transparency.Experimental eye research · 2022Review
- Inherited cataracts: Genetic mechanisms and pathways new and old.Experimental eye research · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 3 institutions in 4 countries.
Funding
Abstract
Congenital cataracts are the prime cause for irreversible blindness in children. The global incidence of congenital cataract is 2.2-13.6 per 10,000 births, with the highest prevalence in Asia. Nearly half of the congenital cataracts are of familial nature, with a predominant autosomal dominant pattern of inheritance. Over 38 of the 45 mapped loci for isolated congenital or infantile cataracts have been associated with a mutation in a specific gene. The clinical and genetic heterogeneity of congenital cataracts makes the molecular diagnosis a bit of a complicated task. Hence, whole exome sequencing (WES) was utilized to concurrently screen all known cataract genes and to examine novel candidate factors for a disease-causing mutation in probands from 11 pedigrees affected with familial congenital cataracts. Analysis of the WES data for known cataract genes identified causative mutations in six pedigrees (55%) in
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.