Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia
Peng G, Shen P, Gandotra N, Le A, Fung E, Jelliffe-Pawlowski L, Davis RW, Enns GM, Zhao H, Cowan TM, Scharfe C. Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia. Genetics In Medicine 2018, 21: 896-903. PMID: 30209273, PMCID: PMC6416784, DOI: 10.1038/s41436-018-0272-5.Peer-Reviewed Original ResearchConceptsScreen-positive newbornsMethylmalonic acidemiaMMA patientsPathogenic variantsNewborn screeningNewborn metabolic screeningLikely pathogenic variantsSecond-tier testingFalse-positive casesInborn metabolic disordersMMA casesHealthy controlsHispanic ethnicityMetabolic disordersMetabolic screeningPatientsDiverse multiethnic populationsMultiethnic populationMolecular findingsBlood spotsUnknown significanceFalse-positive outcomesNBS programsClinical performanceScreening panelTransplant Virus Detection Using Multiplex Targeted Sequencing
Tan SK, Shen P, Lefterova MI, Sahoo MK, Fung E, Odegaard JI, Davis RW, Pinsky BA, Scharfe C. Transplant Virus Detection Using Multiplex Targeted Sequencing. The Journal Of Applied Laboratory Medicine 2018, 2: 757-769. PMID: 31245786, PMCID: PMC6594177, DOI: 10.1373/jalm.2017.024521.Peer-Reviewed Original ResearchTransplant recipientsClinical sensitivityEpstein-Barr virus infectionQuantitative PCRImmunocompromised transplant recipientHematopoietic cell transplantationHuman herpesvirus 7Bronchoalveolar lavageCell transplantationVirus infectionBK virusSolid organsCerebrospinal fluidPatient plasmaViral infectionViral sequencingClinical specimensMajor causeClinical performanceSmall clinical samplesReference virusesClinical samplesSpecific virusesVirusVirus of interest