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
2020
Thoracic aortic aneurysm gene dictionary
Rohde S, Zafar MA, Ziganshin BA, Elefteriades JA. Thoracic aortic aneurysm gene dictionary. Asian Cardiovascular And Thoracic Annals 2020, 29: 682-696. PMID: 32689806, DOI: 10.1177/0218492320943800.Peer-Reviewed Original ResearchConceptsThoracic aortic aneurysmAortic aneurysmRisk of dissectionSpecific causative mutationSmaller aortic sizeSystemic manifestationsAortic sizeDissection patientsLethal complicationGenetic predispositionProgressive enlargementAneurysmsNatural historyPersonalized careAneurysm growthPatientsFamilial casesClinical realityDissectionNon-syndromic thoracic aortic aneurysmsSubstantial proportionGenetic sequencingDisease phenotypeCausative genesHigh rate
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