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
2016
Adding insult to injury: autoimmune haemolytic anaemia complicated by pulmonary embolism
Woodson KA, Lee Y, Gopalratnam K, Halene S. Adding insult to injury: autoimmune haemolytic anaemia complicated by pulmonary embolism. BMJ Case Reports 2016, 2016: bcr2015213575. PMID: 26768839, PMCID: PMC4735441, DOI: 10.1136/bcr-2015-213575.Peer-Reviewed Case Reports and Technical NotesConceptsAutoimmune haemolytic anaemiaOwn red blood cellsPulmonary embolismPulmonary hypertensionVenous thromboembolismHaemolytic anaemiaPatient's own red blood cellsSevere right ventricular dysfunctionNitric oxideRight ventricular dysfunctionNitric oxide treatmentClot burdenHaemodynamic compromiseVentricular dysfunctionRed blood cellsDeadly complicationPathological antibodiesChronic mannerAnemiaBlood cellsHypertensionEmbolismPossible benefitsTreatmentOxide treatment