Evidence map›Paper›PMID 40467338›Full record

ReviewGenome research2025

Functional assays in

Jung-Wan Mok, Shelley B Gibson, Haley A Dostalik, Shinya Yamamoto

Abstract readReview
In one paragraph

Review in Genome research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Review
  3. Hippo signaling regulates cuticle pigmentation and dopamine metabolism inbioRxiv : the preprint server for biology · 2025
    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

4 authors.

Jung-Wan Mok *Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.ORCID 0000-0003-1407-4791
Shelley B Gibson *Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.ORCID 0000-0002-9135-3906
Haley A Dostalik *Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.ORCID 0000-0002-2987-8621
Shinya YamamotoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA; yamamoto@bcm.edu.ORCID 0000-0003-2172-8036

Funding

Diagnosing the Unknown for Care and Advancing Science (DUCAS)U2CNS132415 · NINDS · HARVARD MEDICAL SCHOOL · PI Francis Sessions Cole · 2023 to 2026
$32.1M
Resource and Service SectionU54OD030165 · OD · BAYLOR COLLEGE OF MEDICINE · PI MATTHEW E ROTH · 2020 to 2026
$16.6M
Expansion and characterization of the Drosophila Toolkit to study SARS-CoV-2R24OD022005 · OD · BAYLOR COLLEGE OF MEDICINE · PI BELLEN, HUGO J · 2016 to 2023
$7.4M
Genetics & Genomics Training ProgramT32GM139534 · NIGMS · BAYLOR COLLEGE OF MEDICINE · PI GAD SHAULSKY · 2021 to 2026
$4.8M
Genomic medicine and gene function implementation for an underserved populationR01HG011795 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI BELLEN, HUGO J, WANGLER, MICHAEL FRANCIS · 2021 to 2025
$4.8M
UNDERSTANDING THE ROLE OF TM2D FAMILY GENES IN NOTCH SIGNALING AND ALZHEIMER'S DISEASERF1AG071557 · NIA · BAYLOR COLLEGE OF MEDICINE · PI YAMAMOTO, SHINYA · 2021 to 2021
$1.2M
UNDERSTANDING THE ROLE OF TM2D FAMILY GENES IN NOTCH SIGNALING AND ALZHEIMER'S DISEASER01AG071557 · NIA · BAYLOR COLLEGE OF MEDICINE · PI YAMAMOTO, SHINYA · 2024 to 2025
$794k
NHGRI NIH HHS R01 HG011795NIA NIH HHS R01 AG071557NIA NIH HHS RF1 AG071557NIGMS NIH HHS T32 GM139534NIH HHS R24 OD022005NIH HHS U54 OD030165NINDS NIH HHS U2C NS132415
6 · The paper itself

Abstract

Individuals living with rare diseases often undergo a frustrating and expensive diagnostic odyssey. Clinical geneticists who analyze exome or genome sequencing data from rare disease patients often encounter a list of variants of uncertain significance (VUS) in known disease-causing genes or rare variants in genes of uncertain significance (GUS) that are difficult to interpret, even with the integration of the latest bioinformatic tools. In this Perspective, we review how studies using the fruit fly

Indexed as

Drosophila melanogasterRare DiseasesAnimalsGenetic VariationHumansModels, AnimalMutationPhenotype

Identifiers

PMID40467338
PMCPMC12212082

What OpenQuestion holds

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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.