ArticleJournal of medical genetics2023
A multilayered approach to the analysis of genetic data from individuals with suspected albinism.
Article in Journal of medical genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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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.
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Who cites it
4 citing papers in PubMed, 7 citations in OpenAlex.
- Haplotype-Based Analysis of OCA2 Variants in Oculocutaneous Albinism.Pigment cell & melanoma research · 2026Article
- A rescue assay for genetic diagnosis of oculocutaneous albinism using melanocytic MNT1 knock-out cells.Frontiers in genetics · 2026Article
- From paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentation.PLoS genetics · 2025Article
- After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report.Molecular genetics & genomic medicine · 2024Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
Abstract
Albinism is a clinically and genetically heterogeneous group of conditions characterised by visual abnormalities and variable degrees of hypopigmentation. Multiple studies have demonstrated the clinical utility of genetic investigations in individuals with suspected albinism. Despite this, the variation in the provision of genetic testing for albinism remains significant. One key issue is the lack of a standardised approach to the analysis of genomic data from affected individuals. For example, there is variation in how different clinical genetic laboratories approach genotypes that involve incompletely penetrant alleles, including the common, 'hypomorphic'
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