ArticleNPJ genomic medicine2016
The importance of copy number variation in congenital heart disease.
Article in NPJ genomic medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 1 of them a synthesis that pooled it.
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
42 citing papers in PubMed, 1 synthesis or guideline pooled it, 91 citations in OpenAlex.
- Chromosomal abnormalities in fetuses with congenital heart disease: a meta-analysis.Archives of gynecology and obstetrics · 2023Pooled it
- Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot.Circulation. Genomic and precision medicine · 2021Trial
- Functional genomics iniScience · 2026Article
- PScnv: personalized self-normalizing CNV detection with a hierarchical multi-phase framework.Bioinformatics (Oxford, England) · 2026Article
- Decoding structural birth defects through genomic landscapes: Innovative frameworks for diagnosis (Review).International journal of molecular medicine · 2026Review
- Prenatal diagnostic value of medium-coverage WGS and clinical Exome sequencing in fetal congenital heart disease.Future science OA · 2025Article
- Integrative Functional Genomics Identifies ARHGAP10 in the 4q31.2 Locus as a Novel Congenital Heart Disease and Ciliopathy Gene.bioRxiv : the preprint server for biology · 2025Article
- Current and future diagnostics of congenital heart disease (CHD).Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2025Article
- A review on the relationship between the distal 1q21.1 microdeletion and schizophrenia.Frontiers in genetics · 2025Review
- Complementary role of echocardiography, karyotyping, and chromosomal microarray in congenital cardiac anomalies.Frontiers in medicine · 2025Article
- Variants of unknown significance in fetal heart malformations: distribution and impact on prenatal decision-making.Frontiers in pediatrics · 2025Article
- Bioinformatic Multi-Strategy Profiling of Congenital Heart Defects for Molecular Mechanism Recognition.International journal of molecular sciences · 2024Article
- The yield of SNP microarray analysis for fetal ultrasound cardiac abnormalities.BMC pregnancy and childbirth · 2024Article
- Preimplantation genetic testing as a means of preventing hereditary congenital myasthenic syndrome caused by RAPSN.Molecular genetics & genomic medicine · 2024Article
- Article
- Clinically Relevant Genetic Considerations for Patients With Tetralogy of Fallot.CJC pediatric and congenital heart disease · 2023Review
- Sin3a Associated Protein 130kDa, sap130, plays an evolutionary conserved role in zebrafish heart development.bioRxiv : the preprint server for biology · 2023Article
- Sin3a associated protein 130 kDa, sap130, plays an evolutionary conserved role in zebrafish heart development.Frontiers in cell and developmental biology · 2023Article
- varAmpliCNV: analyzing variance of amplicons to detect CNVs in targeted NGS data.Bioinformatics (Oxford, England) · 2023Article
- Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis.Diagnostics (Basel, Switzerland) · 2022Review
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 2 institutions in 1 country.
Funding
Abstract
Congenital heart disease (CHD) is the most common class of major malformations in humans. The historical association with large chromosomal abnormalities foreshadowed the role of submicroscopic rare copy number variations (CNVs) as important genetic causes of CHD. Recent studies have provided robust evidence for these structural variants as genome-wide contributors to all forms of CHD, including CHD that appears isolated without extra-cardiac features. Overall, a CNV-related molecular diagnosis can be made in up to one in eight patients with CHD. These include
Identifiers
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.