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Items: 10

1.

Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis.

Hendrix MM, Foster SL, Cordovado SK.

J Inborn Errors Metab Screen. 2016 Jan-Dec;4. doi: 10.1177/2326409816661358. Epub 2016 Aug 1.

3.

Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.

Baker MW, Atkins AE, Cordovado SK, Hendrix M, Earley MC, Farrell PM.

Genet Med. 2016 Mar;18(3):231-8. doi: 10.1038/gim.2014.209. Epub 2015 Feb 12.

4.

Novel method to characterize CYP21A2 in Florida patients with congenital adrenal hyperplasia and commercially available cell lines.

Greene CN, Cordovado SK, Turner DP, Keong LM, Shulman D, Mueller PW.

Mol Genet Metab Rep. 2014 Aug 8;1:312-323. eCollection 2014.

5.

Proficiency testing of human leukocyte antigen-DR and human leukocyte antigen-DQ genetic risk assessment for type 1 diabetes using dried blood spots.

Dantonio P, Meredith-Molloy N, Hagopian WA, She JX, Akolkar B, Cordovado SK, Hendrix M, Henderson LO, Hannon WH, Vogt RF.

J Diabetes Sci Technol. 2010 Jul 1;4(4):929-41.

6.

Assessment of DNA contamination from dried blood spots and determination of DNA yield and function using archival newborn dried blood spots.

Cordovado SK, Earley MC, Hendrix M, Driscoll-Dunn R, Glass M, Mueller PW, Hannon WH.

Clin Chim Acta. 2009 Apr;402(1-2):107-13. doi: 10.1016/j.cca.2008.12.028. Epub 2008 Dec 31.

PMID:
19161996
7.

Sequence variants in the PLEKHH2 region are associated with diabetic nephropathy in the GoKinD study population.

Greene CN, Keong LM, Cordovado SK, Mueller PW.

Hum Genet. 2008 Oct;124(3):255-62. doi: 10.1007/s00439-008-0548-y. Epub 2008 Aug 28.

PMID:
18752002
8.

Nephropathy in type 1 diabetes is diminished in carriers of HLA-DRB1*04: the genetics of kidneys in diabetes (GoKinD) study.

Cordovado SK, Zhao Y, Warram JH, Gong H, Anderson KL, Hendrix MM, Hancock LN, Cleary PA, Mueller PW.

Diabetes. 2008 Feb;57(2):518-22. Epub 2007 Nov 26.

9.

Genetics of Kidneys in Diabetes (GoKinD) study: a genetics collection available for identifying genetic susceptibility factors for diabetic nephropathy in type 1 diabetes.

Mueller PW, Rogus JJ, Cleary PA, Zhao Y, Smiles AM, Steffes MW, Bucksa J, Gibson TB, Cordovado SK, Krolewski AS, Nierras CR, Warram JH.

J Am Soc Nephrol. 2006 Jul;17(7):1782-90. Epub 2006 Jun 14.

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