ArticleProceedings of the National Academy of Sciences of the United States of America2022
The landscape of submicroscopic structural variants at the
Article in Proceedings of the National Academy of Sciences of the United States of America, 2022. 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, 12 citations in OpenAlex.
- GDIv2: improving variant selection from human exomes.Bioinformatics advances · 2026Article
- A structural and functional bioinformatics study of QTY-designed retinylidene proteins.QRB discovery · 2025Article
- Evaluation of Retinal Structure and Visual Function in Blue Cone Monochromacy to Develop Clinical Endpoints for L-opsin Gene Therapy.International journal of molecular sciences · 2024Article
- Ocular genetics in the Japanese population.Japanese journal of ophthalmology · 2024Review
- S-cone contribution to oscillatory potentials in patients with blue cone monochromacy.Documenta ophthalmologica. Advances in ophthalmology · 2024Article
- Review
- Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects.NPJ genomic medicine · 2024Article
- Blue cone monochromacy and gene therapy.Vision research · 2023Review
- Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial.Translational vision science & technology · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
31 authors at 19 institutions in 9 countries.
Funding
Abstract
Blue cone monochromacy (BCM) is an X-linked retinal disorder characterized by low vision, photoaversion, and poor color discrimination. BCM is due to the lack of long-wavelength-sensitive and middle-wavelength-sensitive cone photoreceptor function and caused by mutations in the
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.