2022
A retrospective cohort analysis of the Yale pediatric genomics discovery program
Al‐Ali S, Jeffries L, Faustino EVS, Ji W, Mis E, Konstantino M, Zerillo C, Jiang Y, Spencer‐Manzon M, Bale A, Zhang H, McGlynn J, McGrath JM, Tremblay T, Brodsky NN, Lucas CL, Pierce R, Deniz E, Khokha MK, Lakhani SA. A retrospective cohort analysis of the Yale pediatric genomics discovery program. American Journal Of Medical Genetics Part A 2022, 188: 2869-2878. PMID: 35899841, PMCID: PMC9474639, DOI: 10.1002/ajmg.a.62918.Peer-Reviewed Original ResearchMeSH KeywordsCohort StudiesGenetic TestingGenomicsHigh-Throughput Nucleotide SequencingHumansPhenotypeRetrospective StudiesConceptsRetrospective cohort analysisNext-generation sequencingCohort analysisSystem abnormalitiesImmune system abnormalitiesCardiovascular system abnormalitiesFunctional molecular analysesNovel genesPrecise molecular diagnosisClinical characteristicsFurther genetic evaluationDiscovery programsComplex patientsMultisystem diseaseDisease genesPediatric providersRare genetic diseaseNew diagnosisPhenotype relationshipsPatientsGenetic diseasesMolecular analysisDiagnosisParticipant demographicsNGS results
2018
Sera From Children After Cardiopulmonary Bypass Reduces Permeability of Capillary Endothelial Cell Barriers
Pierce RW, Zahr RA, Kandil S, Faustino EVS, Pober JS. Sera From Children After Cardiopulmonary Bypass Reduces Permeability of Capillary Endothelial Cell Barriers. Pediatric Critical Care Medicine 2018, 19: 609-618. PMID: 29652749, PMCID: PMC6037548, DOI: 10.1097/pcc.0000000000001553.Peer-Reviewed Original ResearchConceptsTransendothelial electrical resistanceCardiopulmonary bypassCapillary endothelial cellsEndothelial cellsCapillary leakPatient seraClaudin-5Pulmonary capillary endothelial cellsBarrier functionPulmonary microvascular endothelial cellsReal-time quantitative reverse transcription polymerase chain reactionTertiary pediatric hospitalQuantitative reverse transcription polymerase chain reactionCardiopulmonary bypass circuitCongenital heart diseaseReverse transcription-polymerase chain reactionTranscription-polymerase chain reactionMicrovascular endothelial cellsEndothelial cell barrierCohort studyInflammatory mediatorsPediatric hospitalUnclear etiologyBarrier disruptionHeart disease
2016
Association of thrombophilia and catheter‐associated thrombosis in children: a systematic review and meta‐analysis
Neshat‐Vahid S, Pierce R, Hersey D, Raffini LJ, Faustino EV. Association of thrombophilia and catheter‐associated thrombosis in children: a systematic review and meta‐analysis. Journal Of Thrombosis And Haemostasis 2016, 14: 1749-1758. PMID: 27306795, PMCID: PMC5035642, DOI: 10.1111/jth.13388.Peer-Reviewed Original ResearchConceptsDeep vein thrombosisCatheter-associated thrombosisCentral venous catheter useElevated factor VIII levelsAssociation of thrombophiliaRoutine thrombophilia testingVenous catheter useCochrane Central RegisterPediatric risk factorsPooled prevalence rateFactor VIII levelsProtein C deficiencyRandom-effects modelWeb of ScienceThrombophilic traitsCatheter useCentral RegisterCohort studyFV Leiden mutationVein thrombosisControlled TrialsVenous thrombosisPediatric studiesRisk factorsOdds ratio