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 …

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 …

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

SC Jin, J Homsy, S Zaidi, Q Lu, S Morton… - Nature …, 2017 - nature.com
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 …

De novo mutations in histone-modifying genes in congenital heart disease

S Zaidi, M Choi, H Wakimoto, L Ma, J Jiang, JD Overton… - Nature, 2013 - nature.com
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 …

Genomic analyses implicate noncoding de novo variants in congenital heart disease

F Richter, SU Morton, SW Kim, A Kitaygorodsky… - Nature …, 2020 - nature.com
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 …

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

J Homsy, S Zaidi, Y Shen, JS Ware, KE Samocha… - Science, 2015 - science.org
Congenital heart disease (CHD) patients have an increased prevalence of extracardiac
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 …

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 …

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome …

JT Glessner, AG Bick, K Ito, JG Homsy… - Circulation …, 2014 - Am Heart Assoc
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 …

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 …