ArticleEuropean journal of human genetics : EJHG2020
Anophthalmia including next-generation sequencing-based approaches.
Article in European journal of human genetics : EJHG, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
9 citing papers in PubMed.
- Article
- Bilateral anophthalmia in a neonate: a syndromic presentation with multisystem anomalies and diagnostic challenges.Oxford medical case reports · 2025Article
- Genetic and environmental factors contributing to anophthalmia and microphthalmia: Current understanding and future directions.World journal of clinical pediatrics · 2025Review
- Management of anophthalmia, microphthalmia and coloboma in the newborn, shared care between neonatologist and ophthalmologist: a literature review.Italian journal of pediatrics · 2025Review
- Exome sequencing identifies genetic variants in anophthalmia and microphthalmia.American journal of medical genetics. Part A · 2022Article
- Observational
- CUGC for syndromic microphthalmia including next-generation sequencing-based approaches.European journal of human genetics : EJHG · 2020Article
- A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye.American journal of medical genetics. Part A · 2020Article
- Practical guide to genetic screening for inherited eye diseases.Therapeutic advances in ophthalmologyReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
Abstract
Name of the disease (synonyms) See Table 1, Column 1-"Name of disease" and Column 2-"Alternative names". OMIM# of the disease See Table 1, Column 3-"OMIM# of the disease". Name of the analysed genes or DNA/chromosome segments and OMIM# of the gene(s) Core genes (irrespective of being tested by Sanger sequencing or next-generation sequencing): See Table 1, Column 4-"Cytogenetic location", Column 5-"Associated gene(s)" and Column 6-"OMIM# of associated gene(s)". Additional genes (if tested by next-generation sequencing, including Whole exome/genome sequencing and panel sequencing): See Table 2, Column 1-"Gene", Column 2-"Alternative names", Column 3-"OMIM# of gene" and Column 4-"Cytogenetic location". Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the gene(s) in diagnostic, predictive and prenatal settings, and for risk assessment in relatives.
Indexed as
Identifiers
What OpenQuestion holds
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 OpenQuestion graph.