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

• DOI: 10.1016/j.ajhg.2024.10.020
• Publication Date: 2024-12-05T15:37:02Z
• Authors: Stephen F. Kingsmore; Meredith Wright; Lauren Olsen; Brandan Schultz; Liana Protopsaltis; Dan Averbuj; Eric Blincow; Jeanne Carroll; Sara Caylor; Thomas Defay; Katarzyna Ellsworth; Annette Feigenbaum; Mia Gover; Lucia Guidugli; Christian Hansen; Lucita Van Der Kraan; Chris M. Kunard; Hugh Kwon; Lakshminarasimha ...; Jeremy Leipzig; Yupu Liang; Rebecca Mardach; William R. Mowrey; Hung Nguyen; Anna-Kaisa Niemi; Danny Oh; Muhammed Saad; Gunter Scharer; Jennifer Schleit; Shyamal S. Mehtalia; Erica Sanford; Laurie D. Smith; Mary J. Willis; Kristen Wigby; Rebecca Reimers