Genetic basis for congenital heart disease: revisited: a scientific statement from the American Heart Association
This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …
Maternal hyperglycemia and fetal cardiac development: Clinical impact and underlying mechanisms
Congenital heart disease (CHD) is the most common type of birth defect and is both a
significant pediatric and adult health problem, in light of a growing population of survivors …
significant pediatric and adult health problem, in light of a growing population of survivors …
Whole-exome sequencing in adults with chronic kidney disease: a pilot study
Background: The utility of whole-exome sequencing (WES) for the diagnosis and
management of adult-onset constitutional disorders has not been adequately studied …
management of adult-onset constitutional disorders has not been adequately studied …
A CRISPR-based screen for Hedgehog signaling provides insights into ciliary function and ciliopathies
Primary cilia organize Hedgehog signaling and shape embryonic development, and their
dysregulation is the unifying cause of ciliopathies. We conducted a functional genomic …
dysregulation is the unifying cause of ciliopathies. We conducted a functional genomic …
Role of epigenetics in cardiac development and congenital diseases
T Moore-Morris, PP van Vliet… - Physiological …, 2018 - journals.physiology.org
The heart is the first organ to be functional in the fetus. Heart formation is a complex
morphogenetic process regulated by both genetic and epigenetic mechanisms. Congenital …
morphogenetic process regulated by both genetic and epigenetic mechanisms. Congenital …
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
L Snijders Blok, J Rousseau, J Twist… - Nature …, 2018 - nature.com
Chromatin remodeling is of crucial importance during brain development. Pathogenic
alterations of several chromatin remodeling ATPases have been implicated in …
alterations of several chromatin remodeling ATPases have been implicated in …
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≤ …
[HTML][HTML] Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis
S Boissel, C Fallet-Bianco, D Chitayat, V Kremer… - Genetics in …, 2018 - Elsevier
Purpose Fetal anomalies represent a poorly studied group of developmental disorders. Our
objective was to assess the impact of whole-exome sequencing (WES) on the investigation …
objective was to assess the impact of whole-exome sequencing (WES) on the investigation …
Next generation sequencing applications for cardiovascular disease
Abstract The Human Genome Project (HGP), as the primary sequencing of the human
genome, lasted more than one decade to be completed using the traditional Sanger's …
genome, lasted more than one decade to be completed using the traditional Sanger's …
Clinical significance of circulating microRNAs as markers in detecting and predicting congenital heart defects in children
Y Song, H Higgins, J Guo, K Harrison… - Journal of translational …, 2018 - Springer
Abstract Background Circulating microRNAs (miRNAs) are emerging as novel biomarkers
for detecting cardiovascular diseases. In this study, we aimed to investigate the usefulness …
for detecting cardiovascular diseases. In this study, we aimed to investigate the usefulness …