Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates

Autor: Bodian, Dale L., Klein, Elisabeth, Iyer, Ramaswamy K., Wong, Wendy S.W., Kothiyal, Prachi, Stauffer, Daniel, Huddleston, Kathi C., Gaither, Amber D., Remsburg, Irina, Khromykh, Alina, Baker, Robin L., Maxwell, George L., Vockley, Joseph G., Niederhuber, John E., Solomon, Benjamin D.
Zdroj: In Genetics in Medicine March 2016 18(3):221-230
Databáze: ScienceDirect
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