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
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 analytesPopulation-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)
Brower A, Chan K, Williams M, Berry S, Currier R, Rinaldo P, Caggana M, Gaviglio A, Wilcox W, Steiner R, Holm IA, Taylor J, Orsini JJ, Brunelli L, Adelberg J, Bodamer O, Viall S, Scharfe C, Wasserstein M, Chen JY, Escolar M, Goldenberg A, Swoboda K, Ficicioglu C, Matern D, Lee R, Watson M. Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One). Frontiers In Genetics 2022, 13: 867337. PMID: 35938011, PMCID: PMC9354846, DOI: 10.3389/fgene.2022.867337.Peer-Reviewed Original ResearchNewborn Screening Translational Research NetworkNewborn screeningPopulation-based newborn screeningPopulation-based screeningLife-saving interventionsSurvey of cliniciansState NBS programsEarly treatmentNBS programsNewbornsTranslational Research NetworkNumber of diseasesWorkshop of expertsUnited StatesResearch NetworkUniform panelStudy findingsScreeningCurrent practiceNationwide adoptionYearsCliniciansStudyDiseaseFindings
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
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 panel