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Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project

Monica H. Wojcik, Tian Zhang, Ozge Ceyhan‐Birsoy, Casie A. Genetti, Matthew S. Lebo, Timothy W. Yu, Richard B. Parad, Ingrid A. Holm, Heidi L. Rehm, Alan H. Beggs, Robert C. Green, Pankaj B. Agrawal, Pankaj B. Agrawal, Alan H. Beggs, Wendi N. Betting, Ozge Ceyhan‐Birsoy, Kurt D. Christensen, Dmitry Dukhovny, Shawn Fayer, Leslie A. Frankel, Casie A. Genetti, Chet Graham, Robert C. Green, Amanda M. Guiterrez, Maegan Harden, Ingrid A. Holm, Joel B. Krier, Matthew S. Lebo, Harvey L. Levy, Xingquan Lu, Kalotina Machini, Amy L. McGuire, Jaclyn B. Murry, Medha Naik, Tiffany Nguyen, Richard B. Parad, Hayley A. Peoples, Stacey Pereira, Devan Petersen, Uma Ramamurthy, Vivek Ramanathan, Heidi L. Rehm, Amy E. Roberts, Jill O. Robinson, Serguei Roumiantsev, Talia S. Schwartz, Tina K. Truong, Grace E. VanNoy, Susan E. Waisbren, Timothy W. Yu

2021Genetics in Medicine83 citationsDOIOpen Access PDF

Topics & Concepts

Newborn screeningMedicineExome sequencingPopulationPediatricsDiseaseGenetic testingGeneticsInternal medicineBiologyMutationGeneEnvironmental healthGenomics and Rare DiseasesMetabolism and Genetic DisordersGenomic variations and chromosomal abnormalities
Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project | Litcius