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
2017
Genetics and Genomics of Congenital Heart Disease
Zaidi S, Brueckner M. Genetics and Genomics of Congenital Heart Disease. Circulation Research 2017, 120: 923-940. PMID: 28302740, PMCID: PMC5557504, DOI: 10.1161/circresaha.116.309140.Peer-Reviewed Original ResearchConceptsCongenital heart diseaseHeart diseaseGenetic causeClinical genetic evaluationSurgical managementClinical careCommon birth defectsMajority of CHDBirth defectsDiseasePatientsCauseCardiac developmentMajor advancesMore adultsBiological pathwaysCHD geneticsComplex genetic mechanismsGenetic studies
2012
Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects
Pangilinan F, Molloy AM, Mills JL, Troendle JF, Parle-McDermott A, Signore C, O’Leary V, Chines P, Seay JM, Geiler-Samerotte K, Mitchell A, VanderMeer JE, Krebs KM, Sanchez A, Cornman-Homonoff J, Stone N, Conley M, Kirke PN, Shane B, Scott JM, Brody LC. Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects. BMC Medical Genomics 2012, 13: 62. PMID: 22856873, PMCID: PMC3458983, DOI: 10.1186/1471-2350-13-62.Peer-Reviewed Original ResearchConceptsStrongest association signalAssociation signalsCandidate genesNTD mouse modelsSingle strong signalHigh-priority candidatesCommon genetic variantsMaternal periconceptional folic acid supplementationNTD riskGenetic association studiesCommon birth defectsPathway genesList of variantsB12 pathwayFolate metabolic pathwayAssociation studiesMaternal effectsMetabolic pathwaysGenesPriority candidatesGenetic variantsCommon variationTube defectsCandidate polymorphismsSNPs
2008
Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate
Chiquet B, Blanton S, Burt A, Ma D, Stal S, Mulliken J, Hecht J. Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate. Human Molecular Genetics 2008, 17: 2212-2218. PMID: 18413325, PMCID: PMC2852032, DOI: 10.1093/hmg/ddn121.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsWnt genesNon-syndromic cleft lipWnt gene functionUpper lip fusionParent-child triosGene functionNSCLP familiesWnt familyCommon birth defectsGene-gene interactionsLip fusionWnt9b geneMultiple haplotypesGenesWnt-5aNucleotide polymorphismsGenetic contributionWnt3aWnt11NSCLPFacial processesWnt3Environmental factorsBirth defects
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