Toward a molecular understanding of congenital heart disease
RM Payne, MC Johnson, JW Grant, AW Strauss - Circulation, 1995 - Am Heart Assoc
Background This review discusses the incidence and importance of congenital heart
disease (CHD), the reasons that investigation of causative mechanisms for human CHD has …
disease (CHD), the reasons that investigation of causative mechanisms for human CHD has …
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16
We carried out a genome-wide association study (GWAS) of congenital heart disease
(CHD). Our discovery cohort comprised 1,995 CHD cases and 5,159 controls and included …
(CHD). Our discovery cohort comprised 1,995 CHD cases and 5,159 controls and included …
A screening approach to identify clinically actionable variants causing congenital heart disease in exome data
Background: Congenital heart disease (CHD)—structural abnormalities of the heart that
arise during embryonic development—is the most common inborn malformation, affecting≤ …
arise during embryonic development—is the most common inborn malformation, affecting≤ …
The epidemiology and genetics of congenital heart disease
E Goldmuntz - Clinics in perinatology, 2001 - perinatology.theclinics.com
Congenital heart disease (CHD) is the most common major birth defect, but little is known
about its cause. Both environmental and genetic factors have been implicated. The genetic …
about its cause. Both environmental and genetic factors have been implicated. The genetic …
[HTML][HTML] The importance of copy number variation in congenital heart disease
G Costain, CK Silversides, AS Bassett - NPJ genomic medicine, 2016 - nature.com
Congenital heart disease (CHD) is the most common class of major malformations in
humans. The historical association with large chromosomal abnormalities foreshadowed the …
humans. The historical association with large chromosomal abnormalities foreshadowed the …
The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or …
Congenital heart disease (CHD) is the most common congenital malformation, with
evidence of a strong genetic component. We analyzed data from 223 consecutively …
evidence of a strong genetic component. We analyzed data from 223 consecutively …
[HTML][HTML] Identification of clinically actionable variants from genome sequencing of families with congenital heart disease
Purpose Congenital heart disease (CHD) affects up to 1% of live births. However, a genetic
diagnosis is not made in most cases. The purpose of this study was to assess the outcomes …
diagnosis is not made in most cases. The purpose of this study was to assess the outcomes …
Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis
VC Sheffield, ME Pierpont, D Nishimura… - Human molecular …, 1997 - academic.oup.com
The identification of genetic loci involved in most forms of congenital heart disease has been
hampered by the complex inheritance patterns of these disorders. Atrioventricular canal …
hampered by the complex inheritance patterns of these disorders. Atrioventricular canal …
Genetic contribution to congenital heart disease (CHD)
NA Shabana, SU Shahid, U Irfan - Pediatric cardiology, 2020 - Springer
Congenital heart defects (CHD) are the most common congenital problems in neonates. The
basis for CHD is multifactorial, involving genetic and environmental components. The …
basis for CHD is multifactorial, involving genetic and environmental components. The …
[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 …
leading cause of mortality in childhood. Although advances in clinical management have …