Associated Papers
Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome.
Blue EE et al.
Hgg Advances, 2023
Conditional Mutation of Hand1 in the Mouse Placenta Disrupts Placental Vascular Development Resulting in Fetal Loss in Both Early and Late Pregnancy.
Courtney JA et al.
International Journal of Molecular Sciences, 2021
Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development.
Parker LE et al.
Journal of the American Heart Association, 2021
Isolation and next generation sequencing of archival formalin-fixed DNA.
Alqahtani A et al.
Journal of Anatomy, 2020
The HAND1 frameshift A126FS mutation does not cause hypoplastic left heart syndrome in mice.
Firulli BA et al.
Cardiovascular Research, 2017
Hypoplastic Left Heart Syndrome Sequencing Reveals a Novel NOTCH1 Mutation in a Family with Single Ventricle Defects.
Durbin MD et al.
Pediatric Cardiology, 2017
An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations.
Li YJ et al.
Expert Review of Molecular Diagnostics, 2017
Advances in molecular genetics for pulmonary atresia.
Gao M et al.
Cardiology in the Young, 2017
Transcriptional defect of an inherited NKX2-5 haplotype comprising a SNP, a nonsynonymous and a synonymous mutation, associated with human congenital heart disease.
Reamon-Buettner SM et al.
Plos One, 2013
Left ventricular hypoplasia: a spectrum of disease involving the left ventricular outflow tract, aortic valve, and aorta.
Hickey EJ et al.
Journal of the American College of Cardiology, 2012
Somatic mutations in NKX2–5, GATA4, and HAND1 are not a common cause of tetralogy of Fallot or hypoplastic left heart.
Esposito G et al.
American Journal of Medical Genetics. Part A, 2011
Hand factors as regulators of cardiac morphogenesis and implications for congenital heart defects.
Vincentz JW et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2011
Genetic factors in non-syndromic congenital heart malformations.
Wessels MW et al.
Clinical Genetics, 2010
A functional genetic study identifies HAND1 mutations in septation defects of the human heart.
Reamon-Buettner SM et al.
Human Molecular Genetics, 2009
A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts.
Reamon-Buettner SM et al.
Human Molecular Genetics, 2008