2023
Validation of a targeted metabolomics panel for improved second‐tier newborn screening
Mak J, Peng G, Le A, Gandotra N, Enns G, Scharfe C, Cowan T. Validation of a targeted metabolomics panel for improved second‐tier newborn screening. Journal Of Inherited Metabolic Disease 2023, 46: 194-205. PMID: 36680545, PMCID: PMC10023470, DOI: 10.1002/jimd.12591.Peer-Reviewed Original ResearchConceptsRecommended Uniform Screening PanelMethylmalonic acidemiaNewborn screeningOrnithine transcarbamylase deficiencySecond-tier assayDisease markersGlutaric acidemia type ILong-chain acyl-CoA dehydrogenase deficiencyScreen-positive casesUniform Screening PanelLong-chain acylcarnitinesSecond-tier testingFalse-positive casesSecond-tier testBlood spot samplesAcyl-CoA dehydrogenase deficiencyMetabolomics panelMetabolic disordersTargeted metabolomics analysisPositive casesMetabolite panelNBS programsDehydrogenase deficiencyLiquid chromatography-tandem mass spectrometryScreening panel
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