2021
Epidemiology and Risk Factors for Hemodialysis Access–Associated Infections in Children: A Prospective Cohort Study From the SCOPE Collaborative
Ruebner RL, De Souza HG, Richardson T, Bedri B, Marsenic O, Iorember F, Warejko JK, Warady BA, Neu AM. Epidemiology and Risk Factors for Hemodialysis Access–Associated Infections in Children: A Prospective Cohort Study From the SCOPE Collaborative. American Journal Of Kidney Diseases 2021, 80: 186-195.e1. PMID: 34979159, DOI: 10.1053/j.ajkd.2021.11.008.Peer-Reviewed Original ResearchMeSH KeywordsCatheter-Related InfectionsChildCohort StudiesHumansProspective StudiesRenal DialysisRisk FactorsConceptsCatheter-associated bloodstream infectionsPatient-level risk factorsCA-BSI ratesCatheter care practicesCatheter exit siteDialysis-associated infectionsRisk factorsCare practicesCohort studyOverall median compliancePediatric dialysis centersProspective cohort studyBorderline statistical significanceIndividual patient levelQuality improvement initiativesStandardized care practicesExit siteMupirocin useSCOPE CollaborativeStandardizing CareMaintenance hemodialysisMedian compliancePatient characteristicsSignificant morbidityBloodstream infections
2019
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients
Mann N, Braun DA, Amann K, Tan W, Shril S, Connaughton DM, Nakayama M, Schneider R, Kitzler TM, van der Ven AT, Chen J, Ityel H, Vivante A, Majmundar AJ, Daga A, Warejko JK, Lovric S, Ashraf S, Jobst-Schwan T, Widmeier E, Hugo H, Mane SM, Spaneas L, Somers MJG, Ferguson MA, Traum AZ, Stein DR, Baum MA, Daouk GH, Lifton RP, Manzi S, Vakili K, Kim HB, Rodig NM, Hildebrandt F. Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. Journal Of The American Society Of Nephrology 2019, 30: 201-215. PMID: 30655312, PMCID: PMC6362619, DOI: 10.1681/asn.2018060575.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentBostonChildChild, PreschoolCohort StudiesExome SequencingFemaleGenetic Predisposition to DiseaseGenetic TestingGraft RejectionGraft SurvivalHospitals, PediatricHumansKidney TransplantationMalePrecision MedicinePrognosisRenal Insufficiency, ChronicRetrospective StudiesRisk AssessmentSeverity of Illness IndexSurvival AnalysisTransplant RecipientsTreatment OutcomeConceptsPediatric renal transplant recipientsWhole-exome sequencingKidney transplant recipientsRenal transplant recipientsTransplant recipientsDiagnostic yieldMolecular genetic diagnosisPediatric kidney transplant recipientsSteroid-resistant nephrotic syndromeGenetic causeBoston Children's HospitalUrinary stone diseasePrecision medicine approachYears of ageMolecular diagnosisGenetic diagnosisChronic glomerulonephritisTransplant patientsRelated donorsChildren's HospitalNephrotic syndromeKidney diseaseUnknown etiologyUrinary tractClinical management
2018
Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome
Warejko JK, Schueler M, Vivante A, Tan W, Daga A, Lawson JA, Braun DA, Shril S, Amann K, Somers MJG, Rodig NM, Baum MA, Daouk G, Traum AZ, Kim HB, Vakili K, Porras D, Lock J, Rivkin MJ, Chaudry G, Smoot LB, Singh MN, Smith ER, Mane SM, Lifton RP, Stein DR, Ferguson MA, Hildebrandt F. Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome. Hypertension 2018, 71: 691-699. PMID: 29483232, PMCID: PMC5843550, DOI: 10.1161/hypertensionaha.117.10296.Peer-Reviewed Original ResearchConceptsMidaortic syndromeWhole-exome sequencingExome sequencingVascular diseaseMonogenic causesExtensive vascular diseaseSevere childhood hypertensionGenotype/phenotype correlationChildhood hypertensionRare causeEtiologic diagnosisInflammatory diseasesAbdominal aortaMolecular genetic diagnosisGenetic syndromesSyndromic diseaseWhole-exome sequencing dataDiseaseSyndromePhenotype correlationGenetic diagnosisExome sequencing dataDiagnosisCauseHigh percentage