Genetics and genomics of congenital heart disease
S Zaidi, M Brueckner - Circulation research, 2017 - Am Heart Assoc
Congenital heart disease is the most common birth defect, and because of major advances
in medical and surgical management, there are now more adults living with congenital heart …
in medical and surgical management, there are now more adults living with congenital heart …
Changing landscape of congenital heart disease
BJ Bouma, BJM Mulder - Circulation research, 2017 - Am Heart Assoc
Congenital heart disease is the most frequently occurring congenital disorder affecting≈
0.8% of live births. Thanks to great efforts and technical improvements, including the …
0.8% of live births. Thanks to great efforts and technical improvements, including the …
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
Congenital heart disease (CHD) is the leading cause of mortality from birth defects. Here,
exome sequencing of a single cohort of 2,871 CHD probands, including 2,645 parent …
exome sequencing of a single cohort of 2,871 CHD probands, including 2,645 parent …
De novo mutations in histone-modifying genes in congenital heart disease
Congenital heart disease (CHD) is the most frequent birth defect, affecting 0.8% of live
births. Many cases occur sporadically and impair reproductive fitness, suggesting a role for …
births. Many cases occur sporadically and impair reproductive fitness, suggesting a role for …
Genomic analyses implicate noncoding de novo variants in congenital heart disease
A genetic etiology is identified for one-third of patients with congenital heart disease (CHD),
with 8% of cases attributable to coding de novo variants (DNVs). To assess the contribution …
with 8% of cases attributable to coding de novo variants (DNVs). To assess the contribution …
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
Congenital heart disease (CHD) patients have an increased prevalence of extracardiac
congenital anomalies (CAs) and risk of neurodevelopmental disabilities (NDDs). Exome …
congenital anomalies (CAs) and risk of neurodevelopmental disabilities (NDDs). Exome …
Trends in congenital heart disease: the next decade
JK Triedman, JW Newburger - Circulation, 2016 - Am Heart Assoc
Triedman and Newburger Trends in Congenital Heart Disease 2717 validating these
extraordinary procedural and technical innovations has been described and communicated …
extraordinary procedural and technical innovations has been described and communicated …
Molecular genetics and complex inheritance of congenital heart disease
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 …
leading cause of mortality therein. Genetic etiologies contribute to an estimated 90% of CHD …
Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome …
Rationale: Congenital heart disease (CHD) is among the most common birth defects. Most
cases are of unknown pathogenesis. Objective: To determine the contribution of de novo …
cases are of unknown pathogenesis. Objective: To determine the contribution of de novo …
Glucose inhibits cardiac muscle maturation through nucleotide biosynthesis
H Nakano, I Minami, D Braas, H Pappoe, X Wu… - Elife, 2017 - elifesciences.org
The heart switches its energy substrate from glucose to fatty acids at birth, and maternal
hyperglycemia is associated with congenital heart disease. However, little is known about …
hyperglycemia is associated with congenital heart disease. However, little is known about …