Evidence map›Paper›PMID 38832520›Full record

ReviewDisease models & mechanisms2024

Modelling human genetic disorders in Xenopus tropicalis.

Helen Rankin Willsey, Eleanor G Seaby, Annie Godwin, Sarah Ennis, Matthew Guille, Robert M Grainger

Abstract readReview
In one paragraph

Review in Disease models & mechanisms, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing 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

9 citing papers in PubMed.

  1. Review
  2. Assessing circuit function in the developingFrontiers in behavioral neuroscience · 2026
    Review
  3. Neurod2 knockdown inmicroPublication biology · 2026
    Article
  4. Article
  5. VersatileProceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  6. Article
  7. Article
  8. Genomic Complexity ofmicroPublication biology · 2025
    Article
  9. Animal Models of Human Disease 2.0.International journal of molecular sciences · 2024
    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

6 authors.

Helen Rankin WillseyDepartment of Psychiatry and Behavioral Sciences, Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA 94158, USA.ORCID 0000-0001-8404-3291
Eleanor G SeabyGenomic Informatics Group, Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UK.ORCID 0000-0002-6814-8648
Annie GodwinEuropean Xenopus Resource Centre (EXRC), School of Biological Sciences, University of Portsmouth, Portsmouth PO1 2DY, UK.ORCID 0000-0001-5264-7824
Sarah EnnisGenomic Informatics Group, Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UK.ORCID 0000-0003-2648-0869
Matthew GuilleEuropean Xenopus Resource Centre (EXRC), School of Biological Sciences, University of Portsmouth, Portsmouth PO1 2DY, UK.ORCID 0000-0001-6865-4519
Robert M GraingerDepartment of Biology, University of Virginia, Charlottesville, VA 22904, USA.ORCID 0000-0003-4539-5280

Funding

Genetic Control of Early Retinal DevelopmentR01EY017400 · NEI · UNIVERSITY OF VIRGINIA · PI GRAINGER, ROBERT M · 2006 to 2010
$1.8M
Mechanisms of Embryonic Lens DeterminationR01EY022954 · NEI · UNIVERSITY OF VIRGINIA · PI GRAINGER, ROBERT M · 2013 to 2015
$1.2M
Medical Research Council MR/V012177/1NEI NIH HHS R01 EY017400NEI NIH HHS R01 EY022954NIH HHS EY017400 and EY022954
6 · The paper itself

Abstract

Recent progress in human disease genetics is leading to rapid advances in understanding pathobiological mechanisms. However, the sheer number of risk-conveying genetic variants being identified demands in vivo model systems that are amenable to functional analyses at scale. Here we provide a practical guide for using the diploid frog species Xenopus tropicalis to study many genes and variants to uncover conserved mechanisms of pathobiology relevant to human disease. We discuss key considerations in modelling human genetic disorders: genetic architecture, conservation, phenotyping strategy and rigour, as well as more complex topics, such as penetrance, expressivity, sex differences and current challenges in the field. As the patient-driven gene discovery field expands significantly, the cost-effective, rapid and higher throughput nature of Xenopus make it an essential member of the model organism armamentarium for understanding gene function in development and in relation to disease.

Indexed as

Disease Models, AnimalGenetic Diseases, InbornXenopusAnimalsHumansPhenotypeCRISPRDiseaseGeneticsXenopus tropicalis

Identifiers

PMID38832520
PMCPMC11179720

What OpenQuestion holds

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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.