2017
Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults
Seidelmann SB, Smith E, Subrahmanyan L, Dykas D, Abou Ziki MD, Azari B, Hannah-Shmouni F, Jiang Y, Akar JG, Marieb M, Jacoby D, Bale AE, Lifton RP, Mani A. Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults. Circulation Genomic And Precision Medicine 2017, 10: e001573. PMID: 28087566, PMCID: PMC5245580, DOI: 10.1161/circgenetics.116.001573.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingSudden cardiac deathCardiovascular diseaseClinical diagnosisExome sequencingCardiac deathInherited cardiovascular diseaseCentre of careNovel candidate genesValuable screening toolAdult patientsRisk stratificationPrimary insultCardiac functionGenetic testingScreening toolDiagnosisCVD genesGenetic causeCardiovascular geneticsGenetic panelSuccess rateExome databasesPotential disease associationsPatients
1991
Predictive testing for Wilson's disease using tightly linked and flanking DNA markers.
Farrer L, Bowcock A, Hebert J, Bonne-Tamir B, Sternlieb I, Giagheddu M, George-Hyslop P, Frydman M, Lossner J, Demelia L, Carcassi C, Lee R, Beker R, Bale A, Donis-Keller H, Scheinberg I, Cavalli-Sforza L. Predictive testing for Wilson's disease using tightly linked and flanking DNA markers. Neurology 1991, 41: 992-9. PMID: 2067662, DOI: 10.1212/wnl.41.7.992.Peer-Reviewed Original Research