Evidence map›Paper›PMID 33463545›Full record

ArticleThe Journal of clinical investigation2021

Unraveling the genomic basis of congenital heart disease.

Dawood Darbar

Open access · bronzeAbstract readComment
PubMed Full text at PMC Publisher
In one paragraph

Article in The Journal of clinical investigation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
0.3field-weighted citation impact, top 45% of its field
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

4 citing papers in PubMed, 1 synthesis or guideline pooled it, 4 citations in OpenAlex.

  1. Pooled it
  2. Synergistic Antibacterial Effect of Mucus Fraction fromAntibiotics (Basel, Switzerland) · 2025
    Article
  3. Article
  4. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

1 author at 1 institution in 1 country.

Dawood DarbarDivision of Cardiology, Departments of Medicine and Pharmacology, University of Illinois at Chicago, Chicago, Illinois, USA.
University of Illinois Chicago · US

Funding

Deciphering the genetic mechanisms of atrial fibrillationR01HL138737 · NHLBI · UNIVERSITY OF ILLINOIS AT CHICAGO · PI DARBAR, DAWOOD · 2017 to 2020
$2.6M
Training Program in Personalized Cardiovascular Medicine (TPIPCVM)T32HL139439 · NHLBI · UNIVERSITY OF ILLINOIS AT CHICAGO · PI DARBAR, DAWOOD · 2018 to 2022
$2.1M
NHLBI NIH HHS R01 HL138737NHLBI NIH HHS T32 HL139439
6 · The paper itself

Abstract

The genetic, epigenetic, and environmental etiologic basis of congenital heart disease (CHD) for most heart anomalies remains unexplained. In this issue of the JCI, Lahm et al. performed the largest genome-wide association study (GWAS) to date of European individuals with CHD and clinical subtypes. The comprehensive meta-analysis included over 4000 patients and 8000 controls and uncovered common genetic variants that associated with cardiac anomalies. Lahm and colleagues performed single-cell analysis of induced pluripotent stem cells and heart cells, revealing a role for MACROD2, GOSR2, WNT3, and MSX1 in the developing heart. This study advances our understanding of the genetic basis of common forms of CHD.

Indexed as

Genome-Wide Association StudyHeart Defects, CongenitalGenomicsHeartHumansQb-SNARE ProteinsGOSR2 protein, humanQb-SNARE Proteins

Identifiers

PMID33463545
PMCPMC7810466
OpenAlexW3125468128

What OpenQuestion holds

Textmetadata
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.