Conotruncal Heart Defects: A Narrative Review of Molecular Genetics, Genomics Research and Innovation
S Viswanathan, P Sandeep Oza, A Bellad… - OMICS: A Journal of …, 2024 - liebertpub.com
Congenital heart defects (CHDs) are most prevalent cardiac defects that occur at birth,
leading to significant neonatal mortality and morbidity, especially in the developing nations …
leading to significant neonatal mortality and morbidity, especially in the developing nations …
Molecular convergence of risk variants for congenital heart defects leveraging a regulatory map of the human fetal heart
Congenital heart defects (CHD) arise in part due to inherited genetic variants that alter
genes and noncoding regulatory elements in the human genome. These variants are …
genes and noncoding regulatory elements in the human genome. These variants are …
ENU-based dominant genetic screen identifies contractile and neuronal gene mutations in congenital heart disease
X Luo, L Liu, H Rong, X Liu, L Yang, N Li, H Shi - Genome Medicine, 2024 - Springer
Background Congenital heart disease (CHD) is the most prevalent congenital anomaly, but
its underlying causes are still not fully understood. It is believed that multiple rare genetic …
its underlying causes are still not fully understood. It is believed that multiple rare genetic …
A systems genetics approach identifies roles for proteasome factors in heart development and congenital heart defects
GH Farr III, W Reid, I Young, ML Li, DR Beier, L Maves - bioRxiv, 2025 - biorxiv.org
Congenital heart defects (CHDs) occur in about 1% of live births and are the leading cause
of infant death due to birth defects. While there have been remarkable efforts to pursue large …
of infant death due to birth defects. While there have been remarkable efforts to pursue large …
Genetics and etiology of congenital heart disease.
Congenital heart disease (CHD) is the most common severe birth anomaly, affecting almost
1% of infants. Most CHD is genetic, but only 40% of patients have an identifiable genetic risk …
1% of infants. Most CHD is genetic, but only 40% of patients have an identifiable genetic risk …
Contribution of Nonsense Mediated mRNA Decay to the Complex Genetics of Congenital Heart Disease
JF Klonowski - 2024 - search.proquest.com
Premature termination codon (PTC)-inducing genetic variants represent a large fraction of
clinically relevant pathogenic sequence variation. While often assumed to undergo …
clinically relevant pathogenic sequence variation. While often assumed to undergo …