2017
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
Jin SC, Homsy J, Zaidi S, Lu Q, Morton S, DePalma SR, Zeng X, Qi H, Chang W, Sierant MC, Hung WC, Haider S, Zhang J, Knight J, Bjornson RD, Castaldi C, Tikhonoa IR, Bilguvar K, Mane SM, Sanders SJ, Mital S, Russell MW, Gaynor JW, Deanfield J, Giardini A, Porter GA, Srivastava D, Lo CW, Shen Y, Watkins WS, Yandell M, Yost HJ, Tristani-Firouzi M, Newburger JW, Roberts AE, Kim R, Zhao H, Kaltman JR, Goldmuntz E, Chung WK, Seidman JG, Gelb BD, Seidman CE, Lifton RP, Brueckner M. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nature Genetics 2017, 49: 1593-1601. PMID: 28991257, PMCID: PMC5675000, DOI: 10.1038/ng.3970.Peer-Reviewed Original ResearchMeSH KeywordsAdultAutistic DisorderCardiac MyosinsCase-Control StudiesChildExomeFemaleGene ExpressionGenetic Predisposition to DiseaseGenome-Wide Association StudyGrowth Differentiation Factor 1Heart Defects, CongenitalHeterozygoteHigh-Throughput Nucleotide SequencingHomozygoteHumansMaleMutationMyosin Heavy ChainsPedigreeRiskVascular Endothelial Growth Factor Receptor-3
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 ResearchConceptsRestriction 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