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

Wojcik MH, Zhang T, Ceyhan-Birsoy O, Genetti C, Lebo M, Yu TW, Parad RB, Holm IA, Rehm HL, Green RC, Beggs AH, Agrawal PB, BabySeq Project Team