Associated Papers
The oligogenic inheritance test GCOD detects risk genes and their interactions in congenital heart defects.
Pittman M et al.
Genome Research, 2026
Recessive genetic contribution to congenital heart disease in 5,424 probands.
Dong W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data.
Kars ME et al.
American Journal of Human Genetics, 2025
MYH6 Variants Are Associated with Atrial Dysfunction in Neonates with Hypoplastic Left Heart Syndrome.
Quintanilla Anfinson M et al.
Genes, 2024
Young and early-onset dilated cardiomyopathy with malignant ventricular arrhythmia and sudden cardiac death induced by the heterozygous LDB3, MYH6, and SYNE1 missense mutations.
Zhao T et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2021
Genetic Association Between Hypoplastic Left Heart Syndrome and Cardiomyopathies.
Theis JL et al.
Circulation. Genomic and Precision Medicine, 2021
Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development.
Parker LE et al.
Journal of the American Heart Association, 2021
The functional landscape of the human phosphoproteome.
Ochoa D et al.
Nature Biotechnology, 2020
Impact of MYH6 variants in hypoplastic left heart syndrome.
Tomita-Mitchell A et al.
Physiological Genomics, 2016
Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease.
Preuss C et al.
Plos Genetics, 2016
Recessive MYH6 Mutations in Hypoplastic Left Heart With Reduced Ejection Fraction.
Theis JL et al.
Circulation. Cardiovascular Genetics, 2015
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.
Lopes LR et al.
Heart (british Cardiac Society), 2015
Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease.
Blue GM et al.
Journal of the American College of Cardiology, 2014
Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.
Posch MG et al.
Plos One, 2011
Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects.
Granados-Riveron JT et al.
Human Molecular Genetics, 2010