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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.
Kingsmore SF, Wright M, Olsen L, Schultz B, Protopsaltis L, Averbuj D, Blincow E, Carroll J, Caylor S, Defay T, Ellsworth K, Feigenbaum A, Gover M, Guidugli L, Hansen C, Van Der Kraan L, Kunard CM, Kwon H, Madhavrao L, Leipzig J, Liang Y, Mardach R, Mowrey WR, Nguyen H, Niemi AK, Oh D, Saad M, Scharer G, Schleit J, Mehtalia SS, Sanford E, Smith LD, Willis MJ, Wigby K, Reimers R. Kingsmore SF, et al. Among authors: kwon h. Am J Hum Genet. 2024 Dec 5;111(12):2643-2667. doi: 10.1016/j.ajhg.2024.10.020. Am J Hum Genet. 2024. PMID: 39642868
Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection.
Kingsmore SF, Wright M, Smith LD, Liang Y, Mowrey WR, Protopsaltis L, Bainbridge M, Baker M, Batalov S, Blincow E, Cao B, Caylor S, Chambers C, Ellsworth K, Feigenbaum A, Frise E, Guidugli L, Hall KP, Hansen C, Kiel M, Van Der Kraan L, Krilow C, Kwon H, Madhavrao L, Lefebvre S, Leipzig J, Mardach R, Moore B, Oh D, Olsen L, Ontiveros E, Owen MJ, Reimers R, Scharer G, Schleit J, Shelnutt S, Mehtalia SS, Oriol A, Sanford E, Schwartz S, Wigby K, Willis MJ, Yandell M, Kunard CM, Defay T. Kingsmore SF, et al. Among authors: kwon h. Am J Hum Genet. 2024 Dec 5;111(12):2618-2642. doi: 10.1016/j.ajhg.2024.10.021. Am J Hum Genet. 2024. PMID: 39642867
7,598 results