Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.
Am J Hum Genet. 2020 Oct 1;107(4):596-611. doi: 10.1016/j.ajhg.2020.08.001. Epub 2020 Aug 26.
Am J Hum Genet. 2020.
PMID: 32853555
Free PMC article.
We enrolled healthy newborns and children with metabolic diseases or hearing loss (106 participants total). ES confirmed the participant's underlying diagnosis in 15 out of 17 (88%) children with metabolic disorders and in 5 out of 28 (18%) children with hearing loss. ...
We enrolled healthy newborns and children with metabolic diseases or hearing loss (106 participants total). ES confirmed the participant' …