Genomic frontiers in congenital heart disease

SU Morton, D Quiat, JG Seidman… - Nature Reviews …, 2022 - nature.com
The application of next-generation sequencing to study congenital heart disease (CHD) is
increasingly providing new insights into the causes and mechanisms of this prevalent birth …

[HTML][HTML] Molecular genetics and complex inheritance of congenital heart disease

NS Diab, S Barish, W Dong, S Zhao, G Allington, X Yu… - Genes, 2021 - mdpi.com
Congenital heart disease (CHD) is the most common congenital malformation and the
leading cause of mortality therein. Genetic etiologies contribute to an estimated 90% of CHD …

Lifespan Perspective on Congenital Heart Disease Research: JACC State-of-the-Art Review

GP Diller, A Arvanitaki, AR Opotowsky… - Journal of the American …, 2021 - jacc.org
More than 90% of patients with congenital heart disease (CHD) are nowadays surviving to
adulthood and adults account for over two-thirds of the contemporary CHD population in …

[HTML][HTML] Recent advances in CRISPR-based genome editing technology and its applications in cardiovascular research

ZH Li, J Wang, JP Xu, J Wang, X Yang - Military Medical Research, 2023 - Springer
The rapid development of genome editing technology has brought major breakthroughs in
the fields of life science and medicine. In recent years, the clustered regularly interspaced …

A change of heart: new roles for cilia in cardiac development and disease

L Djenoune, K Berg, M Brueckner… - Nature Reviews Cardiology, 2022 - nature.com
Although cardiac abnormalities have been observed in a growing class of human disorders
caused by defective primary cilia, the function of cilia in the heart remains an underexplored …

[HTML][HTML] Genetics of congenital heart disease: a narrative review of recent advances and clinical implications

J Yasuhara, V Garg - Translational Pediatrics, 2021 - ncbi.nlm.nih.gov
Congenital heart disease (CHD) is the most common human birth defect and remains a
leading cause of mortality in childhood. Although advances in clinical management have …

[HTML][HTML] Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy

N Spielmann, G Miller, TI Oprea, CW Hsu… - Nature Cardiovascular …, 2022 - nature.com
Clinical presentation of congenital heart disease is heterogeneous, making identification of
the disease-causing genes and their genetic pathways and mechanisms of action …

Molecular genetic mechanisms of congenital heart disease

TZ Choudhury, V Garg - Current opinion in genetics & development, 2022 - Elsevier
Congenital heart disease (CHD) affects~ 1% of all live births, but a definitive etiology is
identified in only~ 50%. The causes include chromosomal aneuploidies and copy-number …

Evidence-based assessment of congenital heart disease genes to enable returning results in a genomic study

EL Griffin, SN Nees, SU Morton, J Wynn… - Circulation: Genomic …, 2023 - Am Heart Assoc
Background: Congenital heart disease (CHD) is the most common major congenital
anomaly and causes significant morbidity and mortality. Epidemiologic evidence supports a …

Genomic enhancers in cardiac development and disease

CG Anene-Nzelu, MCJ Lee, WLW Tan… - Nature Reviews …, 2022 - nature.com
Abstract The Human Genome Project marked a major milestone in the scientific community
as it unravelled the~ 3 billion bases that are central to crucial aspects of human life. Despite …