ReviewJournal of human genetics2016
Genetics of congenital heart disease: the contribution of the noncoding regulatory genome.
Review in Journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
31 citing papers in PubMed, 59 citations in OpenAlex.
- Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene.European journal of human genetics : EJHG · 2019Trial
- Cardiac function in zebrafish embryos is linked to an androgen receptor-adrenomedullin-proepicardium axis.Cell communication and signaling : CCS · 2026Article
- Case Report: Dual molecular diagnosis in complex congenital heart disease in an Ecuadorian patient with supravalvar aortic stenosis and pulmonary valve stenosis carrying pathogenic variants inFrontiers in pediatrics · 2026Article
- Article
- The Opportunities and Challenges in the Molecular Mechanism Research of Congenital Heart Disease: A Review.Molecular syndromology · 2025Review
- Integrative computational analyses implicate regulatory genomic elements contributing to spina bifida.Genetics in medicine open · 2024Article
- Functional assessment of heart-specific enhancers by integrating ChIP-seq data.Pediatric research · 2022Article
- Impaired Neurovascular Function Underlies Poor Neurocognitive Outcomes and Is Associated with Nitric Oxide Bioavailability in Congenital Heart Disease.Metabolites · 2022Article
- Network assisted analysis of de novo variants using protein-protein interaction information identified 46 candidate genes for congenital heart disease.PLoS genetics · 2022Article
- Genomic and Non-Genomic Regulatory Mechanisms of the Cardiac Sodium Channel in Cardiac Arrhythmias.International journal of molecular sciences · 2022Review
- Integrative modeling of transmitted andQuantitative biology (Beijing, China) · 2021Article
- Fish-Ing for Enhancers in the Heart.International journal of molecular sciences · 2021Review
- Gestational intermittent hyperoxia rescues murine genetic congenital heart disease in part.Scientific reports · 2021Article
- Race and Genetics in Congenital Heart Disease: Application of iPSCs, Omics, and Machine Learning Technologies.Frontiers in cardiovascular medicine · 2021Review
- Heart Enhancers: Development and Disease Control at a Distance.Frontiers in genetics · 2021Review
- Induced pluripotent stem cells of patients with Tetralogy of Fallot reveal transcriptional alterations in cardiomyocyte differentiation.Scientific reports · 2020Article
- Article
- CHD4 and the NuRD complex directly control cardiac sarcomere formation.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- Clinical and epidemiological features of Heart-Hand Syndrome: a hospital-based study in China.Scientific reports · 2018Article
- Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound (30/45MHZ) System.Journal of visualized experiments : JoVE · 2018Article
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 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital heart disease (CHD) is the most common type of birth defect. The advent of corrective cardiac surgery and the increase in knowledge concerning the longitudinal care of patients with CHD has led to a spectacular increase in life expectancy. Therefore, >90% of children with CHD, who survive the first year of life, will live into adulthood. The etiology of CHD is complex and is associated with both environmental and genetic causes. CHD is a genetically heterogeneous disease that is associated with long-recognized chromosomal abnormalities, as well as with mutation in numerous (developmental) genes. Nevertheless, the genetic factors underlying CHD have remained largely elusive, and it is important to realize that in the far majority of CHD patients no causal mutation or chromosomal abnormality is identified. However, new insights (alternative inheritance paradigms) and technology (next-generation sequencing) have become available that can greatly advance our understanding of the genetic factors that contribute to CHD; these will be discussed in this review. Moreover, we will focus on the discovery of regulatory regions of key (heart) developmental genes and the occurrence of variations and mutations within, in the setting of CHD.
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What OpenQuestion holds
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.