ArticleJournal of cardiovascular development and disease2015
Rationale for the Cytogenomics of Cardiovascular Malformations Consortium: A Phenotype Intensive Registry Based Approach.
Article in Journal of cardiovascular development and disease, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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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
12 citing papers in PubMed.
- Identification of Long Noncoding RNA Candidate Disease Genes Associated With Clinically Reported Copy Number Variants in Congenital Heart Disease.Journal of the American Heart Association · 2025Article
- Performance of Dysmorphology-Based Screening for Genetic Disorders in Pediatric Congenital Heart Disease Supports Wider Genetic Testing.Molecular genetics & genomic medicine · 2024Article
- Article
- Case Report: An association of left ventricular outflow tract obstruction with 5p deletions.Frontiers in genetics · 2024Article
- Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return.European journal of human genetics : EJHG · 2023Article
- A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease.Journal of the American Heart Association · 2023Article
- A multicenter cross-sectional study in infants with congenital heart defects demonstrates high diagnostic yield of genetic testing but variable evaluation practices.Genetics in medicine open · 2023Article
- Double outlet right ventricle.Frontiers in pediatrics · 2023Review
- Variants of significance: medical genetics and surgical outcomes in congenital heart disease.Current opinion in pediatrics · 2020Review
- Genetic evaluation of patients with congenital heart disease.Current opinion in pediatrics · 2018Review
- Genetic Testing in Pediatric Left Ventricular Noncompaction.Circulation. Cardiovascular genetics · 2017Article
- Heart Failure in Pediatric Patients With Congenital Heart Disease.Circulation research · 2017Review
Corrections and comments
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Authors and funding
9 authors.
Funding
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Abstract
Cardiovascular malformations (CVMs) are the most common birth defect, occurring in 1%-5% of all live births. Although the genetic contribution to CVMs is well recognized, the genetic causes of human CVMs are identified infrequently. In addition, a failure of systematic deep phenotyping of CVMs, resulting from the complexity and heterogeneity of malformations, has obscured genotype-phenotype correlations and contributed to a lack of understanding of disease mechanisms. To address these knowledge gaps, we have developed the Cytogenomics of Cardiovascular Malformations (CCVM) Consortium, a multi-site alliance of geneticists and cardiologists, contributing to a database registry of submicroscopic genetic copy number variants (CNVs) based on clinical chromosome microarray testing in individuals with CVMs using detailed classification schemes. Cardiac classification is performed using a modification to the National Birth Defects Prevention Study approach, and non-cardiac diagnoses are captured through ICD-9 and ICD-10 codes. By combining a comprehensive approach to clinically relevant genetic analyses with precise phenotyping, the Consortium goal is to identify novel genomic regions that cause or increase susceptibility to CVMs and to correlate the findings with clinical phenotype. This registry will provide critical insights into genetic architecture, facilitate genotype-phenotype correlations, and provide a valuable resource for the medical community.
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