2022
Metabolic diversity in human populations and correlation with genetic and ancestral geographic distances
Peng G, Pakstis AJ, Gandotra N, Cowan TM, Zhao H, Kidd KK, Scharfe C. Metabolic diversity in human populations and correlation with genetic and ancestral geographic distances. Molecular Genetics And Metabolism 2022, 137: 292-300. PMID: 36252453, PMCID: PMC10131177, DOI: 10.1016/j.ymgme.2022.10.002.Peer-Reviewed Original ResearchAmino AcidsBiomarkersHumansInfant, NewbornMetabolism, Inborn ErrorsNeonatal ScreeningTandem Mass Spectrometry
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 ResearchMeSH KeywordsAmino Acid Metabolism, Inborn ErrorsDried Blood Spot TestingFemaleGenetic VariationHumansInfant, NewbornMachine LearningMaleMetabolism, Inborn ErrorsNeonatal ScreeningConceptsScreen-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