ArticleTranslational vision science & technology2020
Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals
Article in Translational vision science & technology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis 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.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Pooled it
- Novel Genetic Variants and Clinical Profiles in Peters Anomaly Spectrum Disorders.International journal of molecular sciences · 2025Article
- Genetic Analysis ofBiomedicines · 2025Article
- Progress in Translating Glaucoma Genetics Into the Clinic: A Review.Clinical & experimental ophthalmology · 2025Review
- Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.Progress in retinal and eye research · 2024Review
- NovelInternational journal of molecular sciences · 2023Article
- Functional Analysis of a Novel, Non-CanonicalGenes · 2023Article
- Familial Paget's disease of bone with ocular manifestations and a novel TNFRSF11A duplication variant (72dup27).Journal of bone and mineral metabolism · 2023Review
- Genetics and Glaucoma: the state of the art.Frontiers in medicine · 2023Review
- Diagnostic yield of next generation sequencing gene panel assays for early-onset glaucoma in an ethnically diverse population.Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus · 2022Article
- Novel SOX2 mutation in autosomal dominant cataract-microcornea syndrome.BMC ophthalmology · 2022Article
- Animal Model Contributions to Primary Congenital Glaucoma.Journal of ophthalmology · 2022Review
- Observational
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: The aim of this study was to investigate the molecular basis of childhood glaucoma in Switzerland to recommend future targeted genetic analysis in the Swiss population. Methods: Whole-exome sequencing and copy number variation (CNV) analysis was performed in a Swiss cohort of 18 patients from 14 unrelated families. Identified variants were validated by Sanger sequencing and multiplex ligation-dependent probe amplification. Breakpoints of structural variants were determined by a microarray. A minigene assay was conducted for functional analysis of a splice site variant. Results: A diagnosis of primary congenital glaucoma was made in 14 patients, of which six (43%) harbored pathogenic variants in Conclusions: Sequencing of Translational Relevance: The identification of the molecular cause of childhood glaucoma is a prerequisite for genetic counseling and personalized care for patients and families.
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.