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Items: 3

1.

Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017.

Amatuni GS, Currier RJ, Church JA, Bishop T, Grimbacher E, Nguyen AA, Agarwal-Hashmi R, Aznar CP, Butte MJ, Cowan MJ, Dorsey MJ, Dvorak CC, Kapoor N, Kohn DB, Markert ML, Moore TB, Naides SJ, Sciortino S, Feuchtbaum L, Koupaei RA, Puck JM.

Pediatrics. 2019 Feb;143(2). pii: e20182300. doi: 10.1542/peds.2018-2300.

2.

Genomic sequencing in cystic fibrosis newborn screening: what works best, two-tier predefined CFTR mutation panels or second-tier CFTR panel followed by third-tier sequencing?

Currier RJ, Sciortino S, Liu R, Bishop T, Alikhani Koupaei R, Feuchtbaum L.

Genet Med. 2017 Oct;19(10):1159-1163. doi: 10.1038/gim.2017.32. Epub 2017 May 4.

PMID:
28471435
3.

Newborn Screening for Cystic Fibrosis in California.

Kharrazi M, Yang J, Bishop T, Lessing S, Young S, Graham S, Pearl M, Chow H, Ho T, Currier R, Gaffney L, Feuchtbaum L; California Cystic Fibrosis Newborn Screening Consortium.

Pediatrics. 2015 Dec;136(6):1062-72. doi: 10.1542/peds.2015-0811. Epub 2015 Nov 16.

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