2023
Exome Sequencing of 1429 Patients with Thoracic Aortic Disease at the Yale Aortic Institute: what Have We Learned?
Ziganshin B, Zafar M, Elefteriades J. Exome Sequencing of 1429 Patients with Thoracic Aortic Disease at the Yale Aortic Institute: what Have We Learned? Aorta 2023, 11: 1-18. DOI: 10.1055/s-0044-1787954.Peer-Reviewed Original Research
2022
Phenotyping Zebrafish Mutant Models to Assess Candidate Genes Associated with Aortic Aneurysm
Prendergast A, Ziganshin BA, Papanikolaou D, Zafar MA, Nicoli S, Mukherjee S, Elefteriades JA. Phenotyping Zebrafish Mutant Models to Assess Candidate Genes Associated with Aortic Aneurysm. Genes 2022, 13: 123. PMID: 35052463, PMCID: PMC8775119, DOI: 10.3390/genes13010123.Peer-Reviewed Original ResearchConceptsAortic aneurysmSkeletal abnormalitiesThoracic aortic aneurysmWhole-exome sequencingDirect microscopic assessmentSilico genetic analysisVisualized abnormalitiesTAA patientsClinical managementGeneral populationClinical practiceRoutine assessmentClinical testingCell countEvidence-based decisionsUnknown significanceUncertain significanceExperimental modelPilot studyExome sequencingAbnormalitiesMicroscopic assessmentPatientsPositive controlAneurysms
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