Evidence map›Paper›PMID 40850718›Full record

ReviewClinics in perinatology2025

Genetics of Congenital Heart Disease.

Jun Yasuhara, Amee M Bigelow, Vidu Garg

Registry-linked trialAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Clinics in perinatology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01192048 (Genetic Testing of Individuals and Families With Congenital Heart Disease), which is not on this map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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.

NCT01192048 recruitingnot on this map

Genetic Testing of Individuals and Families With Congenital Heart Disease

TypeobservationalSponsorNationwide Children's HospitalRan2009 to 2030Enrolled5,000ConditionsCongenital Heart DiseaseArmsBlood Sample Collection
3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. 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

3 authors.

Jun YasuharaCenter for Cardiovascular Research, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH, USA; Heart Center, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA; Department of Pediatric Cardiology, Monash Heart and Monash Children's Hospital, Monash Health, 246 Clayton Road, Clayton, Melbourne, Victoria 3168, Australia.
Amee M BigelowHeart Center, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA; Department of Pediatrics, The Ohio State University, Columbus, OH, USA.
Vidu GargCenter for Cardiovascular Research, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH, USA; Heart Center, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA; Department of Pediatrics, The Ohio State University, Columbus, OH, USA; Department of Molecular Genetics, The Ohio State University, Columbus, OH, USA. Electronic address: vidu.garg@nationwidechildrens.org.

Funding

Mechanisms and Therapeutics for Congenital Aortic Valve DiseaseR01HL175924 · NHLBI · RESEARCH INST NATIONWIDE CHILDREN'S HOSP · PI Vidu Garg · 2024 to 2026
$2.0M
Epigenetic Mechanisms Underlying Maternal Diabetes Associated Cardiac MalformationsR01HL144009 · NHLBI · RESEARCH INST NATIONWIDE CHILDREN'S HOSP · PI GARG, VIDU · 2019 to 2022
$1.5M
NHLBI NIH HHS R01 HL144009NHLBI NIH HHS R01 HL175924
6 · The paper itself

Abstract

Congenital heart disease (CHD) is a common type of birth defect and a leading cause of infant and childhood mortality. Although recent advancements in genetic technologies have allowed for the discovery of new genomic variation associated with CHD, the prioritization and interpretation of variants for pathogenicity remain a challenge. Further, the underlying molecular genetic mechanisms for CHD remain incompletely defined. In this article, we summarize established genetic etiologies of CHD and highlight advances in knowledge of the underlying genetic architecture of CHD, along with challenges in genetic variation interpretation, the clinical implications of these genomic advances, and future directions.

Indexed as

Heart Defects, CongenitalGenetic Predisposition to DiseaseGenetic TestingHumansInfant, NewbornClinical outcomesCongenital heart diseaseGeneticsGenetic testing

Identifiers

PMID40850718
PMCPMC12927821

What OpenQuestion holds

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Registered trials

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.