ArticleFrontiers in cardiovascular medicine2021
Contribution of Congenital Heart Disorders Associated With Copy Number Variants in Mediating Risk for Brain Developmental Disorders: Evidence From 20-Year Retrospective Cohort Study.
Article in Frontiers in cardiovascular medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.
- The association of neurodevelopmental abnormalities, congenital heart and renal defects in a tuberous sclerosis complex patient cohort.BMC medicine · 2022Pooled it
- Article
- Diagnostic yield of exome and genome sequencing for critically ill pediatric cardiac patients.Translational pediatrics · 2026Article
- Fetal Copy Number Variant Detection in Pregnancies with Ultrasound Soft Markers: A Maternal Age-Stratified Retrospective Study.International journal of general medicine · 2026Article
- Neuro-Genomic Mapping of Cardiac Neurons with Systemic Analysis Reveals Cognitive and Neurodevelopmental Impacts in Congenital Heart Disease.Life (Basel, Switzerland) · 2025Article
- Evaluation of Exome and Genome Sequencing for Critically Ill Pediatric Cardiac Patients.Research square · 2025Article
- Unravelling the Clinical Co-Morbidity and Risk Factors Associated with Agenesis of the Corpus Callosum.Journal of clinical medicine · 2023Article
- Prospects for precision genetic medicine in congenital heart disease.Current opinion in genetics & development · 2022Review
- An X-linkedTranslational pediatrics · 2022Article
- 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
- Translational Study of Copy Number Variations in Schizophrenia.International journal of molecular sciences · 2021Article
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rare pathogenic copy number variants (CNVs) are genetic rearrangements that have been associated with an increased risk for congenital heart disorders (CHDs). However, the association of CNVs with atypical brain development, leading to neurodevelopmental disorders (NDDs), in the presence of CHDs remains unclear. We attempted to explore this association by establishing the prevalence and burden of CNVs associated with CHD in a Welsh population and by studying the effect of rare CNVs associated with CHDs in mediating the risk of NDDs. Toward this goal, we analyzed data from the Congenital Anomaly Register for Wales (CARIS), referred from hospitals in Wales between 1998 and 2018, which included 1,113 subjects in total. Of these, 785 subjects were included in the study following application of the exclusion criteria, and a total of 28 rare CNVs associated with CHD were analyzed. The findings from this cohort study identified 22q11.2 deletion as the most prominent CNV across the cohort. Our data demonstrates that the survival rate of the cohort after 3 years was 99.9%, and mortality fell significantly between 1 and 2 years and between 2 and 3 years [
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