2022
Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk
Willcox JAL, Geiger JT, Morton SU, McKean D, Quiat D, Gorham JM, Tai AC, DePalma S, Bernstein D, Brueckner M, Chung WK, Giardini A, Goldmuntz E, Kaltman JR, Kim R, Newburger JW, Shen Y, Srivastava D, Tristani-Firouzi M, Gelb B, Porter GA, Seidman JG, Seidman CE. Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk. American Journal Of Human Genetics 2022, 109: 961-966. PMID: 35397206, PMCID: PMC9118105, DOI: 10.1016/j.ajhg.2022.03.011.Peer-Reviewed Original ResearchMeSH KeywordsDNA Copy Number VariationsDNA, MitochondrialHeart Defects, CongenitalHumansMitochondriaMutationConceptsCongenital heart disease
2021
Molecular Genetics and Complex Inheritance of Congenital Heart Disease
Diab NS, Barish S, Dong W, Zhao S, Allington G, Yu X, Kahle KT, Brueckner M, Jin SC. Molecular Genetics and Complex Inheritance of Congenital Heart Disease. Genes 2021, 12: 1020. PMID: 34209044, PMCID: PMC8307500, DOI: 10.3390/genes12071020.Peer-Reviewed Original ResearchMeSH KeywordsDNA Copy Number VariationsHeart Defects, CongenitalHumansMolecular BiologyMultifactorial InheritanceMutationConceptsHigh-throughput genomic technologiesHigh-throughput sequencingGenetic architectureCHD familyGenetic variationSophisticated analysis strategiesCilia genesComplex inheritancePathway genesDe novo mutationsGenomic technologiesCauses of CHDMolecular geneticsBiological pathwaysMolecular diagnosisNumber variationsVEGF pathway genesGenesChromatinMutationsNovo mutationsGenetic etiologyTransmitted mutationsGenetic explanationSequencing
2020
De novo Damaging Variants, Clinical Phenotypes and Post-Operative Outcomes in Congenital Heart Disease
Boskovski MT, Homsy J, Nathan M, Sleeper LA, Morton S, Manheimer KB, Tai A, Gorham J, Lewis M, Swartz M, Alfieris GM, Bacha EA, Karimi M, Meyer D, Nguyen K, Bernstein D, Romano-Adesman A, Porter GA, Goldmuntz E, Chung WK, Srivastava D, Kaltman JR, Tristani-Firouzi M, Lifton R, Roberts AE, Gaynor JW, Gelb BD, Kim R, Seidman JG, Brueckner M, Mayer JE, Newburger JW, Seidman CE. De novo Damaging Variants, Clinical Phenotypes and Post-Operative Outcomes in Congenital Heart Disease. Circulation Genomic And Precision Medicine 2020, 13: e002836-e002836. PMID: 32812804, PMCID: PMC7439931, DOI: 10.1161/circgen.119.002836.Peer-Reviewed Original ResearchConceptsWorse transplant-free survivalTransplant-free survivalExtra-cardiac anomaliesCongenital heart diseaseDe novo variantsHeart diseaseFinal extubationNovo variantsFirst operationPost-operative outcomesOpen heart surgeryPreoperative genetic testingRoutine clinical practiceDamaging variantsWhole-exome sequencingHeart transplantationAdverse outcomesSurgical dataPatientsClinical practiceCardiac repairClinical phenotypeDe novoGenetic testingGenetic abnormalities
2018
Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association
Pierpont ME, Brueckner M, Chung WK, Garg V, Lacro RV, McGuire AL, Mital S, Priest JR, Pu WT, Roberts A, Ware SM, Gelb BD, Russell MW, Medicine O. Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association. Circulation 2018, 138: 1. PMID: 30571578, PMCID: PMC6555769, DOI: 10.1161/cir.0000000000000606.Peer-Reviewed Original ResearchMeSH KeywordsAmerican Heart AssociationAneuploidyDNA Copy Number VariationsDown SyndromeGenetic VariationHeart Defects, CongenitalHumansPolymorphism, Single NucleotideUnited States