This article was originally published here Am J Med Genet A. 2022 January 8. doi: 10.1002 / ajmg.a.62636. Online ahead of print. ABSTRACT WAC-related intellectual disability, also known as DeSanto-Shinawi syndrome, is a rare autosomal dominant genetic disorder caused by pathogenic variants of the WAC gene. This syndrome is characterizedRead More →

MRI as a useful adjunct to ultrasound for the evaluation of extracardiac abnormalities in fetuses with congenital heart disease. Credit: Blue Planet Studio / Shutterstock Newborns with heart defects also frequently have abnormal extracardial development of the brain or other organs. Fetal MRI, a magnetic resonance imaging procedure that canRead More →

This article was originally published here J Card Surg. November 29, 2021. doi: 10.1111 / jocs.16166. Online ahead of print. ABSTRACT BACKGROUND: Interatrial communication, one of the most frequent congenital heart diseases, represents an important intracardiac shunt between the systemic and pulmonary circulations. The direction and amplitude of the interatrialRead More →

image: M-DATA workflow seen Following Credit: Yuhan Xie, CC-BY 4.0 (https://creativecommons.org/licenses/by/4.0/) Researchers have identified nearly two dozen genes that contribute to heart defects by studying genetic data from people born with congenital heart disease or autism. Hongyu Zhao of Yale University and his colleagues have developed a new algorithm toRead More →

M-DATA workflow. Credit: Yuhan Xie, CC-BY 4.0 (creativecommons.org/licenses/by/4.0/) Researchers have identified nearly two dozen genes that contribute to heart defects by studying genetic data from people born with congenital heart disease or autism. Hongyu Zhao of Yale University and colleagues have developed a new algorithm to analyze genetic data forRead More →