2023
Systematic review and meta-analysis of the genetics of peripheral arterial disease
Ochoa Chaar C, Kim T, Alameddine D, DeWan A, Guzman R, Dardik A, Grossetta Nardini H, Wallach J, Kullo I, Murray M. Systematic review and meta-analysis of the genetics of peripheral arterial disease. JVS Vascular Science 2023, 5: 100133. PMID: 38314202, PMCID: PMC10832467, DOI: 10.1016/j.jvssci.2023.100133.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsGenome-wide association studiesDNA variantsWide association studyRecent genome-wide association studiesSmall candidate gene studiesCandidate gene studiesGWAS studiesCandidate genesAssociation studiesGene studiesGenetic researchGeneticsOnly variantVariantsHepatic lipaseGenesProgressionSignificant variation
2017
Whole-exome sequencing in evaluation of patients with venous thromboembolism
Lee EJ, Dykas DJ, Leavitt AD, Camire RM, Ebberink E, García de Frutos P, Gnanasambandan K, Gu SX, Huntington JA, Lentz SR, Mertens K, Parish CR, Rezaie AR, Sayeski PP, Cromwell C, Bar N, Halene S, Neparidze N, Parker TL, Burns AJ, Dumont A, Yao X, Chaar CIO, Connors JM, Bale AE, Lee AI. Whole-exome sequencing in evaluation of patients with venous thromboembolism. Blood Advances 2017, 1: 1224-1237. PMID: 29296762, PMCID: PMC5728544, DOI: 10.1182/bloodadvances.2017005249.Peer-Reviewed Original ResearchWhole-exome sequencingVenous thromboembolismStudy patientsThrombophilia panelVTE patientsHeritable thrombophiliaThrombophilia testingDisease-causing genetic variantsEvaluation of patientsControl patientsThrombophilia mutationsProtein modelingThrombotic historyProtein structurePatientsThrombophilia genesVTE pathogenesisWES variantsUnknown significanceThrombophiliaGenetic variantsGenesPrior reportsSequencingThromboembolism