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

Tamara S. Roman, Stephanie B. Crowley, Myra I. Roche, Ann Katherine M. Foreman, Julianne O’Daniel, Bryce A. Seifert, Kristy Lee, Alicia Brandt, Chelsea Gustafson, Daniela M. DeCristo, Natasha T. Strande, Lori Ramkissoon, Laura V. Milko, Phillips Owen, Sayanty Roy, Mai Xiong, Ryan S. Paquin, Rita M. Butterfield, Megan A. Lewis, Katherine J. Souris, Donald B. Bailey, Christine Rini, Jessica K. Booker, Bradford C. Powell, Karen E. Weck, Cynthia M. Powell, Jonathan S. Berg

2020The American Journal of Human Genetics125 citationsDOIOpen Access PDF

Topics & Concepts

Exome sequencingNewborn screeningContext (archaeology)MedicineGenetic testingExomeDNA sequencingMedical geneticsCarrier testingPediatricsGeneticsBioinformaticsBiologyInternal medicineGeneMutationPaleontologyPrenatal diagnosisFetusPregnancyGenomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesRNA modifications and cancer
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