Evidence map›Paper›PMID 41118220›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2025

Joint disruption of

Ryan D Fine, Rebecca Chubaryov, Mingzhou Fu, Gabriel Grullon, Aravinda Chakravarti

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Joint disruption ofProceedings of the National Academy of Sciences of the United States of America · 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

5 authors.

Ryan D FineCenter for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY 10016.ORCID 0000-0002-3165-9110
Rebecca ChubaryovCenter for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY 10016.
Mingzhou FuCenter for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY 10016.
Gabriel GrullonCenter for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY 10016.
Aravinda ChakravartiCenter for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY 10016.ORCID 0000-0002-4264-2285

Funding

Vaccine FacilityP30CA016087 · NCI · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI MARK Reid PHILIPS · 1985 to 2026
$83.1M
Genetic Analysis of Hirschsprung Disease - RenewalR01HD028088 · NICHD · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI CHAKRAVARTI, ARAVINDA · 1991 to 2024
$6.2M
Genetic Analysis of Hirschsprung DiseaseR37HD028088 · NICHD · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI CHAKRAVARTI, ARAVINDA · 2010 to 2019
$6.2M
NCI NIH HHS P30 CA016087NICHD NIH HHS R01 HD028088NICHD NIH HHS R37 HD028088NIH HHS HD028088NYULH NA
6 · The paper itself

Abstract

Despite extensive genetic heterogeneity, 72% of pathogenic alleles for Hirschsprung disease (HSCR) arise from coding and regulatory variants in genes of the

Indexed as

Enteric Nervous SystemHirschsprung DiseaseProto-Oncogene Proteins c-retReceptor, Endothelin BTranscription, GeneticAnimalsDisease Models, AnimalGene Regulatory NetworksMiceNeural CrestNeuronsEDNRB protein, mouseProto-Oncogene Proteins c-retReceptor, Endothelin BRet protein, mouseaganglionosiscell fateEdnrbepistasisRet

Identifiers

PMID41118220
PMCPMC12582274

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.