2019
De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes
Watkins WS, Hernandez EJ, Wesolowski S, Bisgrove BW, Sunderland RT, Lin E, Lemmon G, Demarest BL, Miller TA, Bernstein D, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Newburger JW, Seidman CE, Shen Y, Yost HJ, Yandell M, Tristani-Firouzi M. De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes. Nature Communications 2019, 10: 4722. PMID: 31624253, PMCID: PMC6797711, DOI: 10.1038/s41467-019-12582-y.Peer-Reviewed Original ResearchConceptsChromatin-modifying genesCilia-related genesGene classesDe novo variantsDistinct gene functionsDamaging de novo variantsBackground mutation rateGene burden analysisNovo variantsGene functionGenetic architectureRecessive formPediatric Cardiac Genomics ConsortiumSporadic congenital heart diseaseMode of inheritancePhenotypic landscapeGene pathwaysDisease genesGenomics ConsortiumMutation rateGenesRecessive genotypeDe novoCompound heterozygous genotypeDe novo forms
1991
Establishment of Left‐Right Asymmetry in Vertebrates: Genetically Distinct Steps are Involved
Brueckner M, McGrath J, D'Eustachio P, Horwich A. Establishment of Left‐Right Asymmetry in Vertebrates: Genetically Distinct Steps are Involved. Novartis Foundation Symposia 1991, 162: 202-218. PMID: 1802643, DOI: 10.1002/9780470514160.ch12.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsDigestive SystemFunctional LateralityGenes, RecessiveHeartHumansMiceMutationPedigreeSitus InversusSpleenVertebratesConceptsRestriction fragment length polymorphism (RFLP) markersFragment length polymorphism (AFLP) markersMouse chromosome 12Length polymorphism markersTiming of expressionLeft-right determinationLeft-right axisLeft-right asymmetryPositional cloningPolymorphism markersRecessive allelesGene productsPattern of inheritanceChromosome 12Developmental pathwaysLinkage analysisCardiac tubeFunction mutationsGenesMolecular analysisDevelopmental stepsFirst organAffected embryosVertebratesDistinct phenotypes