Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project

Newborn screening (NBS) was established as a public health program in the 1960s and is crucial for facilitating detection of certain medical conditions in which early intervention can prevent serious, life-threatening health problems. Genomic sequencing can potentially expand the screening for rare...

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Vydáno v:Am J Hum Genet
Hlavní autoři: Roman, Tamara S., Crowley, Stephanie B., Roche, Myra I., Foreman, Ann Katherine M., O’Daniel, Julianne M., Seifert, Bryce A., Lee, Kristy, Brandt, Alicia, Gustafson, Chelsea, DeCristo, Daniela M., Strande, Natasha T., Ramkissoon, Lori, Milko, Laura V., Owen, Phillips, Roy, Sayanty, Xiong, Mai, Paquin, Ryan S., Butterfield, Rita M., Lewis, Megan A., Souris, Katherine J., Bailey, Donald B., Rini, Christine, Booker, Jessica K., Powell, Bradford C., Weck, Karen E., Powell, Cynthia M., Berg, Jonathan S.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2020
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7536575/
https://ncbi.nlm.nih.gov/pubmed/32853555
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2020.08.001
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