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
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