2022
Population-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