ReviewCold Spring Harbor perspectives in medicine2014
Insights into the genetic structure of congenital heart disease from human and murine studies on monogenic disorders.
Review in Cold Spring Harbor perspectives in medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
What it found
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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.
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.
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Who cites it
28 citing papers in PubMed, 53 citations in OpenAlex.
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- Research trajectory of the mechanism of preeclampsia: a scientometric perspective.Journal of health, population, and nutrition · 2025Article
- Cardiomyocyte proliferation and regeneration in congenital heart disease.Pediatric discovery · 2024Article
- Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease.Stem cell research & therapy · 2023Article
- Uncovering the Genetic Basis of Congenital Heart Disease: Recent Advancements and Implications for Clinical Management.CJC pediatric and congenital heart disease · 2023Review
- Intraplacental injection of AAV9-CMV-iCre results in the widespread transduction of multiple organs in double-reporter mouse embryos.Experimental animals · 2023Article
- Heterozygous nonsense variants in laminin subunit 3α resulting in Ebstein's anomaly.HGG advances · 2023Article
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- Genomic sequencing has a high diagnostic yield in children with congenital anomalies of the heart and urinary system.Frontiers in pediatrics · 2023Article
- Polygenic risk scores of endo-phenotypes identify the effect of genetic background in congenital heart disease.HGG advances · 2022Article
- Epigenetics in Congenital Heart Disease.Journal of the American Heart Association · 2022Review
- Modeling Human TBX5 Haploinsufficiency Predicts Regulatory Networks for Congenital Heart Disease.Developmental cell · 2021Article
- Cardiac NaScience China. Life sciences · 2021Article
- Fontan Circulation Might be Associated with Peripartum Cardiomyopathy: A Review of Mechanistic and Clinical Aspects.Current cardiology reviews · 2021Review
- Genetics of Congenital Heart Disease.Biomolecules · 2019Review
- Novel insights into the genetic landscape of congenital heart disease with systems genetics.Progress in pediatric cardiology · 2019Article
- Developmental origins for semilunar valve stenosis identified in mice harboring congenital heart disease-associatedDisease models & mechanisms · 2019Article
- pouC Regulates Expression of bmp4 During Atrioventricular Canal Formation in Zebrafish.Developmental dynamics : an official publication of the American Association of Anatomists · 2019Article
- Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.Circulation · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 3 institutions in 1 country.
Funding
Abstract
Study of monogenic congenital heart disease (CHD) has provided entry points to gain new understanding of heart development and the molecular pathogenesis of CHD. In this review, we discuss monogenic CHD caused by mutations of the cardiac transcription factor genes NKX2-5 and GATA4. Detailed investigation of these genes in mice and humans has expanded our understanding of heart development, shedding light on the complex genetic and environmental factors that influence expression and penetrance of CHD gene mutations.
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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.