2015
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
Homsy J, Zaidi S, Shen Y, Ware JS, Samocha KE, Karczewski KJ, DePalma SR, McKean D, Wakimoto H, Gorham J, Jin SC, Deanfield J, Giardini A, Porter GA, Kim R, Bilguvar K, López-Giráldez F, Tikhonova I, Mane S, Romano-Adesman A, Qi H, Vardarajan B, Ma L, Daly M, Roberts AE, Russell MW, Mital S, Newburger JW, Gaynor JW, Breitbart RE, Iossifov I, Ronemus M, Sanders SJ, Kaltman JR, Seidman JG, Brueckner M, Gelb BD, Goldmuntz E, Lifton RP, Seidman CE, Chung WK. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science 2015, 350: 1262-1266. PMID: 26785492, PMCID: PMC4890146, DOI: 10.1126/science.aac9396.Peer-Reviewed Original ResearchConceptsCongenital anomaliesNeurodevelopmental disabilitiesCongenital heart disease patientsDe novo mutationsExtracardiac congenital anomaliesImproved prognostic assessmentEarly therapeutic interventionHeart disease patientsCongenital heart diseaseNovo mutationsCHD patientsDisease patientsHeart diseasePrognostic assessmentCHD casesTherapeutic interventionsPatientsExome sequencingCHDParent-offspring triosMultiple mutationsGenetic contributionMutationsChromatin modificationsTranscriptional regulation
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