2020
Genomic analyses implicate noncoding de novo variants in congenital heart disease
Richter F, Morton SU, Kim SW, Kitaygorodsky A, Wasson LK, Chen KM, Zhou J, Qi H, Patel N, DePalma SR, Parfenov M, Homsy J, Gorham JM, Manheimer KB, Velinder M, Farrell A, Marth G, Schadt EE, Kaltman JR, Newburger JW, Giardini A, Goldmuntz E, Brueckner M, Kim R, Porter GA, Bernstein D, Chung WK, Srivastava D, Tristani-Firouzi M, Troyanskaya OG, Dickel DE, Shen Y, Seidman JG, Seidman CE, Gelb BD. Genomic analyses implicate noncoding de novo variants in congenital heart disease. Nature Genetics 2020, 52: 769-777. PMID: 32601476, PMCID: PMC7415662, DOI: 10.1038/s41588-020-0652-z.Peer-Reviewed Original Research
2013
The Congenital Heart Disease Genetic Network Study
Gelb B, Brueckner M, Chung W, Goldmuntz E, Kaltman J, Pablo Kaski J, Kim R, Kline J, Mercer-Rosa L, Porter G, Roberts A, Rosenberg E, Seiden H, Seidman C, Sleeper L, Tennstedt S, Kaltman J, Schramm C, Burns K, Pearson G, Rosenberg E, Newburger J, Breitbart R, Colan S, Geva J, Monafo A, Roberts A, Stryker J, Seidman C, McDonough B, Seidman J, Goldmuntz E, Edman S, Garbarini J, Hakonarson H, Mercer-Rosa L, Mitchell L, Tusi J, White P, Woyciechowski S, Chung W, Warburton D, Awad D, Celia K, Etwaru D, Sond J, Kline J, Korsin R, Lanz A, Marquez E, Williams I, Wilpers A, Yee R, Gelb B, Guevara D, Julian A, Mac Neal M, Mintz C, Peter I, Sachidanandam R, Seiden H, Romano-Adesman A, Gruber D, Stellato N, Brueckner M, Lifton R, Cross N, Deanfield J, Giardini A, Flack K, Porter G, Taillie E, Kim R, Tran N, Tennstedt S, Breitbart R, Dandreo K, Gallagher D, Lu M, Sleeper L, Berlin D, Beiswanger C, Lifton R, Seidman J, Hakonarson H, White P, Italia M, Chung W, Seidman C, Brooks (Chair) M, Olive M, Botkin J, Dupuis J, Garg V, Watson M, Bristow J, Evans T, Kendziorski C, Mardis E, Murray J, Saltz J, Wong H. The Congenital Heart Disease Genetic Network Study. Circulation Research 2013, 112: 698-706. PMID: 23410879, PMCID: PMC3679175, DOI: 10.1161/circresaha.111.300297.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultBiological Specimen BanksChildChild, PreschoolClinical Trials as TopicConfidentialityData CollectionDatabases, FactualDNA Mutational AnalysisFollow-Up StudiesGene DosageGenetic Association StudiesGenomicsGenotypeHeart Defects, CongenitalHospitals, PediatricHumansInfantInfant, NewbornInterdisciplinary CommunicationNational Heart, Lung, and Blood Institute (U.S.)Outcome Assessment, Health CarePatient SelectionPhenotypeProspective StudiesRegistriesSchools, MedicalTranslational Research, BiomedicalUnited StatesYoung AdultConceptsGenetic factorsAtrial septal defectForms of CHDData-coordinating centerLate morbidityMost patientsObstructive lesionsPediatric Cardiac Genomics ConsortiumMedian ageClinical featuresBlood InstituteNational HeartSeptal defectComplex lesionsPremature mortalitySpecific genetic lesionsCore laboratoryCongenital heartCHDSaliva samplesAdequate DNALesionsBirth defectsInfant mortalityProbands