Evidence map›Paper›PMID 42326794›Full record

ArticlemedRxiv : the preprint server for health sciences2026

Genome-wide association and multi-omics functional screens reveal the genetic architecture of foveal development.

Callum Hunt, Manjiri Patil, Hammad Syed, Ha-Jun Yoon, Tingting Yang, Vanessa Rodwell, Zhanhan Tu, Gail DE Maconachie, Kayesha Coley, Alvin Lirio and 34 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

44 authors.

Callum HuntUlverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, Leicester, UK.
Manjiri PatilUlverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, Leicester, UK.
Hammad SyedUlverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, Leicester, UK.
Ha-Jun YoonUlverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, Leicester, UK.
Tingting YangDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Vanessa RodwellUlverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, Leicester, UK.
Zhanhan TuUlverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, Leicester, UK.
Gail DE MaconachieUlverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, Leicester, UK.
Kayesha ColeyDivision of Public Health and Epidemiology, University of Leicester, Leicester, UK.
Alvin LirioUlverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, Leicester, UK.
Nick ShrineDivision of Public Health and Epidemiology, University of Leicester, Leicester, UK.
Richard PackerDivision of Public Health and Epidemiology, University of Leicester, Leicester, UK.ORCID 0000-0003-2459-1020
Mahmoud FassadUlverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, Leicester, UK.
Riddhi ShenoyUlverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, Leicester, UK.
Natalie AllcockElectron Microscopy Facility Core Biotechnology Services, College of Life Sciences, University of Leicester, Leicester, UK.
Brandon LimDivision of Public Health and Epidemiology, University of Leicester, Leicester, UK.
Helen J KuhtUlverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, Leicester, UK.
Girish VarmaInternational Institute of Information Technology Hyderabad, Gachibowli, Telangana, India.
Irem KaraerUlverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, Leicester, UK.
Ranjit InjetyUlverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, Leicester, UK.
William JakinsUlverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, Leicester, UK.
Reenette SavantUlverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, Leicester, UK.
Rishi SekhriUlverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, Leicester, UK.
Michael HisaundUlverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, Leicester, UK.
Jinu HanInstitute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, Seodaemun-gu, Seoul, Korea (the Republic of).
Seema TeliUlverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, Leicester, UK.
Jun WangDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Zhen ZuoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Josh WhittinghamElectron Microscopy Facility Core Biotechnology Services, College of Life Sciences, University of Leicester, Leicester, UK.
Gareth DouglasSchool of Engineering, University of Leicester, Leicester, UK.
Nicolas SylviusNUCLEUS Genomics, Core Biotechnology Services, University of Leicester, Leicester, UK.
Pradeep C VasudevanUniversity Hospitals of Leicester NHS Trust, Leicester, UK.
Ala MoshiriDepartment of Ophthalmology & Vision Science, University of California Davis School of Medicine, Sacramento, California, United States.
Jonathan H ZippinDepartment of Dermatology, Weill Cornell Medical College of Cornell University, New York, New York, United States.
Brian P BrooksOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.
Lluis MontoliuDepartment of Molecular and Cellular Biology, National Centre for Biotechnology (CNB-CSIC), Madrid, Spain.
Irene GottlobUlverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, Leicester, UK.
Ko-Fan ChenDivision of Genetics and Genome Biology, University of Leicester, Leicester, UK.
Takeshi YoshimatsuDepartment of Ophthalmology and Visual Sciences, Washington University in St Louis School of Medicine, St. Louis, USA.
Martin D TobinDivision of Public Health and Epidemiology, University of Leicester, Leicester, UK.
William Hj NortonThe University of Leicester, Division of Biosciences Education, University Rd, Leicester.
Rui ChenDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Chiara BatiniDivision of Public Health and Epidemiology, University of Leicester, Leicester, UK.
Mervyn G ThomasUlverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, Leicester, UK.

Funding

GENETICS OF EARLY ONSET RETINAL DISEASESR01EY018571 · NEI · UNIVERSITY OF CALIFORNIA-IRVINE · PI RUI CHEN · 2008 to 2026
$7.2M
Molecular Basis of Human Visual System DisordersR01EY022356 · NEI · UNIVERSITY OF CALIFORNIA-IRVINE · PI RUI CHEN · 2012 to 2026
$6.1M
NEI UCI Center Core Grant for Vision ResearchP30EY034070 · NEI · UNIVERSITY OF CALIFORNIA-IRVINE · PI Rachel Wagner Martin · 2022 to 2026
$3.7M
Mechanisms of cAMP-dependent regulation of melanosome pHR01AR077664 · NIAMS · WEILL MEDICAL COLL OF CORNELL UNIV · PI Jonathan Hale Zippin · 2021 to 2026
$3.6M
NEI NIH HHS P30 EY034070NEI NIH HHS R01 EY018571NEI NIH HHS R01 EY022356NIAMS NIH HHS R01 AR077664Wellcome Trust
6 · The paper itself

Abstract

Foveal hypoplasia causes visual impairment across congenital eye disorders, yet the genetic programmes governing foveal development remain poorly characterised and no tractable model exists for foveal disease. In the first genome-wide association study of foveal hypoplasia, we identified 42 sentinel variants mapping to 54 effector genes supported by ≥ 2 criteria from a variant-to-gene framework incorporating developmental multi-omics. Disruption of six effector genes using mutant lines and CRISPR knockouts in the zebrafish high acuity zone recapitulates structural, functional, and ultrastructural hallmarks of foveal hypoplasia, establishing the first vertebrate disease model. Integration with human foetal single-cell and spatial transcriptomics reveals two temporal waves of effector gene expression and identifies Müller glia as critical mediators of foveal patterning. Phenome-wide analyses reveal foveal variants are pleiotropic with refractive, lenticular, and metabolic traits, connecting foveal development to anterior segment and systemic disease biology. These findings should inform mechanistic studies of macular disease.

Identifiers

PMID42326794
PMCPMC13278201

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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.