2022
dbRUSP: An Interactive Database to Investigate Inborn Metabolic Differences for Improved Genetic Disease Screening
Peng G, Zhang Y, Zhao H, Scharfe C. dbRUSP: An Interactive Database to Investigate Inborn Metabolic Differences for Improved Genetic Disease Screening. International Journal Of Neonatal Screening 2022, 8: 48. PMID: 36135348, PMCID: PMC9504335, DOI: 10.3390/ijns8030048.Peer-Reviewed Original ResearchNewborn screeningMetabolite levelsUniversal newborn screeningUniform Screening PanelBlood metabolite levelsNew candidate markersGestational ageFalse-positive resultsBirth weightMetabolic disordersReference rangeInfluence of covariatesNutrition statusBlood collectionNBS programsScreening panelMetabolic conditionsDisease screeningCandidate markersMetabolic differencesNewbornsPositive resultsMetabolic analytes
2020
Reducing False-Positive Results in Newborn Screening Using Machine Learning
Peng G, Tang Y, Cowan TM, Enns GM, Zhao H, Scharfe C. Reducing False-Positive Results in Newborn Screening Using Machine Learning. International Journal Of Neonatal Screening 2020, 6: 16. PMID: 32190768, PMCID: PMC7080200, DOI: 10.3390/ijns6010016.Peer-Reviewed Original ResearchOrnithine transcarbamylase deficiencyMethylmalonic acidemiaNewborn screeningGlutaric acidemia type 1Successful public health programsLong-chain acyl-CoA dehydrogenase deficiencyPublic health programsInborn metabolic disordersAcyl-CoA dehydrogenase deficiencyGestational ageClinical variablesFalse-positive resultsBirth weightMetabolic disordersScreen positivesHealth programsType 1NBS programsDehydrogenase deficiencyDisease markersDisordersPositive resultsScreening
2018
Elevated methylmalonic acidemia (MMA) screening markers in Hispanic and preterm newborns
Peng G, de Fontnouvelle CA, Enns GM, Cowan TM, Zhao H, Scharfe C. Elevated methylmalonic acidemia (MMA) screening markers in Hispanic and preterm newborns. Molecular Genetics And Metabolism 2018, 126: 39-42. PMID: 30448007, PMCID: PMC6361520, DOI: 10.1016/j.ymgme.2018.11.006.Peer-Reviewed Original ResearchConceptsMarker levelsBirth weightMethylmalonic acidemiaPreterm birthHispanic infantsBlack infantsLow birth weightPreterm birth rateFalse-positive casesPreterm newbornsGestational ageFalse-positive resultsHigh prevalenceDiagnostic proceduresInfantsNon-HispanicsBirth rateNewbornsPredictive covariatesAcidemia