Congenital heart disease: emerging themes linking genetics and development
Yuan S, Zaidi S, Brueckner M. Congenital heart disease: emerging themes linking genetics and development. Current Opinion In Genetics & Development 2013, 23: 352-359. PMID: 23790954, PMCID: PMC4154700, DOI: 10.1016/j.gde.2013.05.004.Peer-Reviewed Original ResearchConceptsCausative gene discoveryExtreme locus heterogeneityCopy number variationsDistinct genotype-phenotype correlationCiliary signalingModel organismsGene discoveryMost congenital heart diseasesDe novo mutationsGenomic technologiesDevelopmental pathwaysHuman geneticsGenotype-phenotype correlationLines of evidenceGenetic componentLocus heterogeneityMechanistic insightsNovo mutationsCHD pathogenesisGeneticsGenetic abnormalitiesBirth defectsRecent advancesOrganismsSignaling
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