Evidence map›Paper›PMID 40114969›Full record

ArticleFrontiers in cell and developmental biology2025

A zebrafish model of

Tien Le, Stephanie Htun, Manoj Kumar Pandey, Yihui Sun, Albert Frank Magnusen, Ehsan Ullah, Julie Lauzon, Shannon Beres, Chung Lee, Bin Guan and 4 more

Abstract read
In one paragraph

Article in Frontiers in cell and developmental biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

14 authors.

Tien LeDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States.
Stephanie HtunDivision of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, United States.
Manoj Kumar PandeyDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States.
Yihui SunDepartment of Neurology, Weill Institute for Neurosciences., University of California San Francisco, San Francisco, CA, United States.
Albert Frank MagnusenDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States.
Ehsan UllahOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, United States.
Julie LauzonDepartment of Medical Genetics and Pediatrics, Cumming School of Medicine, Alberta Children's Hospital, University of Calgary, Calgary, AB, Canada.
Shannon BeresDepartment of Ophthalmology, Stanford University School of Medicine, Stanford, CA, United States.
Chung LeeStanford University Pediatrics/Medical Genetics, Stanford University, Stanford, CA, United States.
Bin GuanOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, United States.
Robert B HufnagelOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, United States.
Brian P BrooksOphthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, United States.
Sergio E BaranziniDepartment of Neurology, Weill Institute for Neurosciences., University of California San Francisco, San Francisco, CA, United States.
Anne SlavotinekDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States.

Funding

Genomic analysis of microphthalmia, anophthalmia and colobomaR01EY032976 · NEI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI SLAVOTINEK, ANNE M. · 2021 to 2023
$1.3M
Microphthalmia, anophthalmia and coloboma (MAC) and retinoic acid pathway genesR01EY035500 · NEI · CINCINNATI CHILDRENS HOSP MED CTR · PI SLAVOTINEK, ANNE M, TIBREWAL, SHAILJA · 2023 to 2025
$1.1M
NEI NIH HHS R01 EY032976NEI NIH HHS R01 EY035500
6 · The paper itself

Abstract

Introduction: Heterozygous deletions predicting haploinsufficiency for the Cysteine Rich Motor Neuron 1 ( Methods: We present three patients with heterozygous deletions and truncating variants predicted to result in haploinsufficiency for Results: Homozygous, Discussion: Our work strengthens the association between haploinsufficiency for

Indexed as

colobomacolobomatous macrophthalmia with microcorneacysteine-rich motor neuron 1lens developmentmacrophthalmiaRNA-seqzebrafish

Identifiers

PMID40114969
PMCPMC11922885

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.