Richards CS - Search Results

1

Analytic validity of cystic fibrosis testing: a preliminary estimate.

Palomaki GE, Bradley LA, Richards CS, Haddow JE. Palomaki GE, et al. Among authors: richards cs. Genet Med. 2003 Jan-Feb;5(1):15-20. doi: 10.1097/00125817-200301000-00003. Genet Med. 2003. PMID: 12544471 Free article.

2

Standards and guidelines for CFTR mutation testing.

Richards CS, Bradley LA, Amos J, Allitto B, Grody WW, Maddalena A, McGinnis MJ, Prior TW, Popovich BW, Watson MS, Palomaki GE. Richards CS, et al. Genet Med. 2002 Sep-Oct;4(5):379-91. doi: 10.1097/00125817-200209000-00010. Genet Med. 2002. PMID: 12394352 Free article.

3

Estimated analytic validity of HFE C282Y mutation testing in population screening: the potential value of confirmatory testing.

Palomaki GE, Haddow JE, Bradley LA, Richards CS, Stenzel TT, Grody WW. Palomaki GE, et al. Among authors: richards cs. Genet Med. 2003 Nov-Dec;5(6):440-3. doi: 10.1097/01.gim.0000096500.66084.85. Genet Med. 2003. PMID: 14614395

4

Assessing the analytic validity of molecular testing for Huntington disease using data from an external proficiency testing survey.

Palomaki GE, Richards CS. Palomaki GE, et al. Among authors: richards cs. Genet Med. 2012 Jan;14(1):69-75. doi: 10.1038/gim.0b013e3182310bb5. Epub 2011 Sep 26. Genet Med. 2012. PMID: 22237433 Free article.

5

Molecular genetic testing for cystic fibrosis: laboratory performance on the College of American Pathologists external proficiency surveys.

Lyon E, Schrijver I, Weck KE, Ferreira-Gonzalez A, Richards CS, Palomaki GE; CAP/ACMG Biochemical and Molecular Genetics Committee. Lyon E, et al. Among authors: richards cs. Genet Med. 2015 Mar;17(3):219-25. doi: 10.1038/gim.2014.93. Epub 2014 Jul 31. Genet Med. 2015. PMID: 25077647 Free article.

6

Prenatal screening for cystic fibrosis.

Richards CS, Haddow JE. Richards CS, et al. Clin Lab Med. 2003 Jun;23(2):503-30, x-xi. doi: 10.1016/s0272-2712(03)00033-7. Clin Lab Med. 2003. PMID: 12848456 Review.

7

Results from an external proficiency testing program: 11 years of molecular genetics testing for myotonic dystrophy type 1.

Richards CS, Palomaki GE, Hegde M. Richards CS, et al. Genet Med. 2016 Dec;18(12):1290-1294. doi: 10.1038/gim.2016.59. Epub 2016 Jun 2. Genet Med. 2016. PMID: 27253733 Free article.

8

Recommendations from the EGAPP Working Group: genomic profiling to assess cardiovascular risk to improve cardiovascular health.

Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group. Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group. Genet Med. 2010 Dec;12(12):839-43. doi: 10.1097/GIM.0b013e3181f872c0. Genet Med. 2010. PMID: 21042222 Free article.

9

Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.

Watson MS, Cutting GR, Desnick RJ, Driscoll DA, Klinger K, Mennuti M, Palomaki GE, Popovich BW, Pratt VM, Rohlfs EM, Strom CM, Richards CS, Witt DR, Grody WW. Watson MS, et al. Among authors: richards cs. Genet Med. 2004 Sep-Oct;6(5):387-91. doi: 10.1097/01.gim.0000139506.11694.7c. Genet Med. 2004. PMID: 15371902 Free PMC article. No abstract available.

10

Technical standards and guidelines: venous thromboembolism (Factor V Leiden and prothrombin 20210G >A testing): a disease-specific supplement to the standards and guidelines for clinical genetics laboratories.

Spector EB, Grody WW, Matteson CJ, Palomaki GE, Bellissimo DB, Wolff DJ, Bradley LA, Prior TW, Feldman G, Popovich BW, Watson MS, Richards CS. Spector EB, et al. Among authors: richards cs. Genet Med. 2005 Jul-Aug;7(6):444-53. doi: 10.1097/01.gim.0000172641.57755.3a. Genet Med. 2005. PMID: 16024978

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