Evidence map›Paper›PMID 40461563›Full record

ArticleScientific reports2025

A novel cardiomyopathy phenotype linked to a CHD7 missense variant.

In Young Park, Chih-Wei Hsu, Karim Bouazoune, Christina E Espindola, Madeline Hannah McLaughlin Armond, Cristian Coarfa, Sandra L Grimm, James F Martin, Donna M Martin, Cheryl Lyn Walker

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Scientific reports, 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. Review
  2. Role of CHD chromatin remodelers in heart development.World journal of pediatrics : WJP · 2026
    Review
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

10 authors.

In Young Park *Center for Precision Environmental Health, Baylor College of Medicine, Houston, TX, USA. InYoung.Park@bcm.edu.
Chih-Wei Hsu *Department of Integrative Physiology, Baylor College of Medicine, Houston, TX, USA.
Karim BouazouneCenter for Precision Environmental Health, Baylor College of Medicine, Houston, TX, USA.
Christina E EspindolaCenter for Precision Environmental Health, Baylor College of Medicine, Houston, TX, USA.
Madeline Hannah McLaughlin ArmondCenter for Precision Environmental Health, Baylor College of Medicine, Houston, TX, USA.
Cristian CoarfaDepartment of Duncan Cancer Center-Biostatistics, Baylor College of Medicine, Houston, TX, USA.
Sandra L GrimmDepartment of Duncan Cancer Center-Biostatistics, Baylor College of Medicine, Houston, TX, USA.
James F MartinDepartment of Integrative Physiology, Baylor College of Medicine, Houston, TX, USA.
Donna M MartinDepartment of Pediatrics, University of Michigan Medical School, Ann Arbor, MI, USA.
Cheryl Lyn WalkerCenter for Precision Environmental Health, Baylor College of Medicine, Houston, TX, USA. Cheryl.Walker@bcm.edu.

Funding

UM1HG006348: Cas9 Genome Integrity Supplemental ProposalUM1HG006348 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI Jason D. Heaney, Chih-Wei Logan Hsu · 2016 to 2026
$47.5M
Consortium for Broad Based Disease Phenotyping of Knockout MiceU54HG006348 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI BEAUDET, ARTHUR L., PAYLOR, RICHARD E · 2011 to 2015
$17.0M
Epigenetics of Inner ear neurosensory cell developmentR01DC018404 · NIDCD · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI KWAN, KELVIN Y., MARTIN, DONNA M. · 2020 to 2024
$2.7M
Methyltransferase Contributions to Genomic Stability and CancerR01CA203012 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI RATHMELL, WENDY KIMRYN, WALKER, CHERYL L. · 2016 to 2020
$2.2M
Baylor College of Medicine the Optical Imaging & Vital Microscopy Core at Baylor College of MedicineCHARGE Syndrome Foundation 2020 CHARGE Syndrome Foundation Scientific Research Grant ProgramNCI NIH HHS R01 CA203012NHGRI NIH HHS U54 HG006348NHGRI NIH HHS UM1 HG006348NIDCD NIH HHS R01 DC018404NIH HHS R01 CA203012NIH HHS R01 DC018404NIH HHS UM1 HG006348
6 · The paper itself

Abstract

Loss of function in the chromatin remodeler CHD7 causes CHARGE syndrome, characterized by variable penetrance and diverse abnormalities. However, establishing genotype-phenotype correlations has been challenging, as most CHD7 inactivating mutations are null alleles. Through CHD7 missense variant analysis at potential phosphorylation sites, we identified T730 (T720 in mice) as a critical residue associated with pathogenesis. Using a CHD7 T730 missense variant (Chd7

Indexed as

CardiomyopathiesDNA-Binding ProteinsDNA HelicasesMutation, MissenseAnimalsDisease Models, AnimalFemaleHaploinsufficiencyHumansMaleMicePhenotypeChd7 protein, mouseDNA-Binding ProteinsDNA HelicasesCardiomyopathyCHARGE syndromeCHD7GSK3T730 phosphorylation

Identifiers

PMID40461563
PMCPMC12134341

What Socratic 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 Socratic graph.