id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_jnkfkvja5zeclmauf4p77tkapi	Sarah M. Furnier	Translating Molecular Technologies into Routine Newborn Screening Practice	2020	12	.pdf	application/pdf	6257	749	57	the isolated DNA to detect a pathogenic variant of the HBB gene that causes sickle cell disease [2]. Molecular technology applications in Wisconsin routine newborn screening. 1 Screening positive determination is based on the first-tier result, and "just-in-time" gene variant information 2. Molecular Marker Identification as Primary Screening Methods in NBS for Severe Combined excision circles (TRECs) in dried blood samples can be used for SCID screening in newborns [9] In 2008, the Wisconsin NBS program implemented a molecular screening assay for SCID, the first Although SCID screening methods are DNA-based assays, TRECs are not a genetic marker diagnosis of sickle cell disease using dried blood specimens on blotters used for newborn screening. Newborn screening for severe combined immunodeficiency; The Wisconsin on the Severe Combined Immunodeficiency Newborn Screening Implementation Experience. https://www.newsteps.org/resources/data-visualizations/newborn-screening-status-all-disorders https://www.newsteps.org/resources/data-visualizations/newborn-screening-status-all-disorders Molecular Marker Identification as Primary Screening Methods in NBS for Severe Combined Immunodeficiency (SCID) and Spinal Muscular Atrophy (SMA) 	./cache/work_jnkfkvja5zeclmauf4p77tkapi.pdf	./txt/work_jnkfkvja5zeclmauf4p77tkapi.txt