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
1996
The genetics of left-right development and heterotaxia
Bowers P, Brueckner M, Yost H. The genetics of left-right development and heterotaxia. Seminars In Perinatology 1996, 20: 577-588. PMID: 9090782, DOI: 10.1016/s0146-0005(96)80070-x.Peer-Reviewed Original ResearchConceptsLeft-right developmentMolecular genetic mechanismsPrimitive heart tubeSingle geneCardiac morphogenesisDifferent genesCardiac loopingHeart tubeGenesPhenotypeComplex groupHeterotaxiaMorphogenesisMost crucial stepCrucial stepGeneticsElucidationLoopingWide spectrumDevelopment resultsCongenital heart