2022
Network assisted analysis of de novo variants using protein-protein interaction information identified 46 candidate genes for congenital heart disease
Xie Y, Jiang W, Dong W, Li H, Jin SC, Brueckner M, Zhao H. Network assisted analysis of de novo variants using protein-protein interaction information identified 46 candidate genes for congenital heart disease. PLOS Genetics 2022, 18: e1010252. PMID: 35671298, PMCID: PMC9205499, DOI: 10.1371/journal.pgen.1010252.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCase-Control StudiesCohort StudiesExomeExome SequencingHeart Defects, CongenitalHumansMice
2021
Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease
Morton SU, Shimamura A, Newburger PE, Opotowsky AR, Quiat D, Pereira AC, Jin SC, Gurvitz M, Brueckner M, Chung WK, Shen Y, Bernstein D, Gelb BD, Giardini A, Goldmuntz E, Kim RW, Lifton RP, Porter GA, Srivastava D, Tristani-Firouzi M, Newburger JW, Seidman JG, Seidman CE. Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease. JAMA Cardiology 2021, 6: 457-462. PMID: 33084842, PMCID: PMC7578917, DOI: 10.1001/jamacardio.2020.4947.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAged, 80 and overCase-Control StudiesChildChild, PreschoolFemaleGene Expression RegulationGene FrequencyGenes, NeoplasmGenetic Predisposition to DiseaseGenetic VariationHeart Defects, CongenitalHumansInfantInfant, NewbornLoss of Function MutationMaleMiddle AgedNeoplasmsYoung AdultConceptsCongenital heart diseaseCancer risk genesCancer riskLoF variantsControl participantsHeart diseaseRisk genesMulticenter case-control studyStructural cardiac anomaliesTime of enrollmentCase-control studyDamaging variantsExtracardiac anomaliesExtracardiac manifestationsCardiac anomaliesClinical variablesNeurodevelopmental delayLongitudinal surveillanceMAIN OUTCOMEParent studyCommon birth defectsPatientsEarly interventionFunction variantsMultiple patients
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
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
2013
De novo mutations in histone-modifying genes in congenital heart disease
Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, Romano-Adesman A, Bjornson RD, Breitbart RE, Brown KK, Carriero NJ, Cheung YH, Deanfield J, DePalma S, Fakhro KA, Glessner J, Hakonarson H, Italia MJ, Kaltman JR, Kaski J, Kim R, Kline JK, Lee T, Leipzig J, Lopez A, Mane SM, Mitchell LE, Newburger JW, Parfenov M, Pe’er I, Porter G, Roberts AE, Sachidanandam R, Sanders SJ, Seiden HS, State MW, Subramanian S, Tikhonova IR, Wang W, Warburton D, White PS, Williams IA, Zhao H, Seidman JG, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Seidman CE, Lifton RP. De novo mutations in histone-modifying genes in congenital heart disease. Nature 2013, 498: 220-223. PMID: 23665959, PMCID: PMC3706629, DOI: 10.1038/nature12141.Peer-Reviewed Original Research