Evidence map›Paper›PMID 38355306›Full record

ArticleGenome research2024

Pathogenic variants in

James L Shepherdson, Ryan Z Friedman, Yiqiao Zheng, Chi Sun, Inez Y Oh, David M Granas, Barak A Cohen, Shiming Chen, Michael A White

Open access · bronzeAbstract read
In one paragraph

Article in Genome research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing 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

13 citing papers in PubMed, 14 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Article
  6. Review
  7. Mutational scanning ofGenome research · 2024
    Article
  8. Article
  9. Article
  10. Mutational scanning ofbioRxiv : the preprint server for biology · 2024
    Article
  11. Article
  12. Review
  13. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

9 authors at 1 institution in 1 country.

James L Shepherdson *Department of Genetics, Washington University School of Medicine in St. Louis, St. Louis, Missouri 63110, USA.ORCID 0000-0002-3288-7000
Ryan Z Friedman *Department of Genetics, Washington University School of Medicine in St. Louis, St. Louis, Missouri 63110, USA.ORCID 0000-0001-9013-8676
Yiqiao ZhengDepartment of Ophthalmology and Visual Sciences, Washington University School of Medicine in St. Louis, St. Louis, Missouri 63110, USA.ORCID 0000-0003-4133-0439
Chi SunDepartment of Ophthalmology and Visual Sciences, Washington University School of Medicine in St. Louis, St. Louis, Missouri 63110, USA.ORCID 0000-0003-0656-3333
Inez Y OhDepartment of Ophthalmology and Visual Sciences, Washington University School of Medicine in St. Louis, St. Louis, Missouri 63110, USA.ORCID 0000-0002-0780-8710
David M GranasDepartment of Genetics, Washington University School of Medicine in St. Louis, St. Louis, Missouri 63110, USA.
Barak A CohenDepartment of Genetics, Washington University School of Medicine in St. Louis, St. Louis, Missouri 63110, USA.ORCID 0000-0002-3350-2715
Shiming ChenDepartment of Ophthalmology and Visual Sciences, Washington University School of Medicine in St. Louis, St. Louis, Missouri 63110, USA; chenshiming@wustl.edu mawhite@wustl.edu.
Michael A WhiteDepartment of Genetics, Washington University School of Medicine in St. Louis, St. Louis, Missouri 63110, USA; chenshiming@wustl.edu mawhite@wustl.edu.ORCID 0000-0001-8511-6026
Washington University in St. Louis · US

Funding

WASHINGTON UNIVERSITY CENTER VISION RESEARCHP30EY002687 · NEI · WASHINGTON UNIVERSITY · PI Steven Bassnett · 1985 to 2026
$18.4M
Vulnerable and Resilient Cells in Retinal DegenerationR01EY012543 · NEI · WASHINGTON UNIVERSITY · PI SHIMING CHEN, Philip Raymond Williams · 2000 to 2026
$12.2M
PROMOTERSR01GM092910 · NIGMS · WASHINGTON UNIVERSITY · PI Barak A Cohen · 2011 to 2026
$6.6M
Understanding and treating CRX-linked retinopathiesR01EY032136 · NEI · WASHINGTON UNIVERSITY · PI CHEN, SHIMING · 2021 to 2025
$1.9M
DISCOVERY OF DNA DETERMINANTS OF TRANSCRIPTION FACTOR BINDING AND FUNCTION IN PHOR01GM121755 · NIGMS · WASHINGTON UNIVERSITY · PI WHITE, MICHAEL AARON · 2017 to 2021
$1.5M
CIS-REGULATORY MECHANISMS UNDERLYING RETINOPATHYR01EY027784 · NEI · WASHINGTON UNIVERSITY · PI CHEN, SHIMING, COHEN, BARAK A · 2017 to 2020
$1.4M
Multiplex functional assay of variant effect in the retinal transcription factor CRXF30EY033640 · NEI · WASHINGTON UNIVERSITY · PI SHEPHERDSON, JAMES LEWIS · 2022 to 2025
$178k
Interpreting function of non-coding sequences with synthetic biology and machine learningF31HG011431 · NHGRI · WASHINGTON UNIVERSITY · PI FRIEDMAN, RYAN ZACHARY · 2020 to 2022
$94k
NEI NIH HHS F30 EY033640NEI NIH HHS P30 EY002687NEI NIH HHS R01 EY012543NEI NIH HHS R01 EY027784NEI NIH HHS R01 EY032136NHGRI NIH HHS F31 HG011431NIGMS NIH HHS R01 GM092910NIGMS NIH HHS R01 GM121755
6 · The paper itself

Abstract

Dozens of variants in the gene for the homeodomain transcription factor (TF) cone-rod homeobox (

Indexed as

Homeodomain ProteinsTrans-ActivatorsAnimalsHumansMiceRegulatory Sequences, Nucleic AcidRetinaRetinal Cone Photoreceptor CellsTranscription Factorscone rod homeobox proteinHomeodomain ProteinsTrans-ActivatorsTranscription Factors

Identifiers

PMID38355306
PMCPMC10984388
OpenAlexW4391805471

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.