2025
Modeling thoracic aortic genetic variants in the zebrafish: useful for predicting clinical pathogenicity?
Prendergast A, Sheppard M, Famulski J, Nicoli S, Mukherjee S, Sips P, Elefteriades J. Modeling thoracic aortic genetic variants in the zebrafish: useful for predicting clinical pathogenicity? Frontiers In Cardiovascular Medicine 2025, 12: 1480407. PMID: 40066353, PMCID: PMC11892108, DOI: 10.3389/fcvm.2025.1480407.Peer-Reviewed Original ResearchPathogenicity of VUSProportion of variantsMedical genetic testingCausal genesPathogenicity assessmentClinical pathogensTested pathogensGenetic variantsCausative genesTAAD casesGenesGenetic defectsGenetic testingThoracic aortic aneurysmHeritable genetic defectsImpact cardiovascular morbidityPathogensVUSAortic aneurysmCardiovascular morbidityVariantsZebrafishTAADClinical applicationEnhance patient care
2019
Nonsyndromic Thoracic Aortic Aneurysms and Dissections—Is Screening Possible?
Faggion Vinholo T, Zafar MA, Ziganshin BA, Elefteriades JA. Nonsyndromic Thoracic Aortic Aneurysms and Dissections—Is Screening Possible? Seminars In Thoracic And Cardiovascular Surgery 2019, 31: 628-634. PMID: 31212014, DOI: 10.1053/j.semtcvs.2019.05.035.Peer-Reviewed Original ResearchConceptsThoracic aortic aneurysmTAAD patientsAortic aneurysmFatal natural historySerologic screening testsProphylactic surgical interventionNormal life expectancyObvious clinical signsRoutine genetic testingWhole-exome sequencingTAAD casesSurgical interventionClinical signsTimely diagnosisScreening testClinical settingNatural historyGenetic testingTAADExome sequencingDisease-causing genesGenetic mutationsLife expectancyDiagnosisPatients
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