De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot - Greenway, Steven C; Pereira, Alexandre C; Lin, Jennifer C; DePalma, Steven R; Israel, Samuel J; Mesquita, Sonia M; Ergul, Emel; Conta, Jessie H; Korn, Joshua M; McCarroll, Steven A; Gorham, Joshua M; Gabriel, Stacey; et al. (Nature genetics, 2009)
Keywords: Agriculture; Animal Genetics and Genomics; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; Cancer Research; Cardiology. Vascular system; Cardiovascular disease; Child, Preschool; Chromosomes, Human, Pair 1 - genetics; Chromosomes, Human, Pair 3 - genetics; Congenital heart diseases. Malformations of the aorta, pulmonary vessels and vena cava; Data analysis; Fundamental and applied biological sciences. Psychology; Gene Dosage; Gene Expression Regulation; Gene Function; Genes; Genetic aspects; Genetic Variation; Genetics of eukaryotes. Biological and molecular evolution; Heart; Heart Ventricles - metabolism; Human Genetics; Humans; letter; Medical sciences; Mutation; Phenotype; Risk factors; Studies; Tetralogy of Fallot; Tetralogy of Fallot - genetics; Tetralogy of Fallot - pathology; United States; Variant; Gene; Sporadic; Copy number; Heart disease; Fallot tetralogy; Cardiovascular disease; Identification; Locus; Congenital disease; De novo