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Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial

Stephen F. Kingsmore, Meredith S. Wright, L. Olsen, Brandan Schultz, Liana Protopsaltis, Dan Averbuj, Eric Blincow, Jeanne Carroll, Sara Caylor, Thomas Defay, Katarzyna A. Ellsworth, Annette Feigenbaum, Mia Gover, Lucia Guidugli, Christian Holm Hansen, Lucita Van Der Kraan, Chris M. Kunard, Hugh Kwon, Lakshminarasimha Madhavrao, Jeremy Leipzig, Yupu Liang, Rebecca Mardach, William R. Mowrey, Hung Van Nguyen, Anna‐Kaisa Niemi, Danny Oh, Muhammed Saad, Gunter Scharer, Jennifer Schleit, Shyamal Mehtalia, Erica Sanford Kobayashi, Laurie D. Smith, Mary Willis, Kristen Wigby, Rebecca Reimers

2024The American Journal of Human Genetics12 citationsDOIOpen Access PDF

Topics & Concepts

MedicineNeonatal intensive care unitClinical trialGenetic testingPediatricsConfidence intervalPredictive valueIncidence (geometry)Prospective cohort studyInternal medicinePhysicsOpticsGenomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesPrenatal Screening and Diagnostics
Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial | Litcius