Weck KE - Search Results

1

A panoramic view of the accuracy of molecular genetic testing.

Weck KE, Schrijver I. Weck KE, et al. Genet Med. 2016 Dec;18(12):1188-1189. doi: 10.1038/gim.2016.116. Epub 2016 Aug 18. Genet Med. 2016. PMID: 27537703 Free article. No abstract available.

2

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.

Putcha GV, Bejjani BA, Bleoo S, Booker JK, Carey JC, Carson N, Das S, Dempsey MA, Gastier-Foster JM, Greinwald JH Jr, Hoffmann ML, Jeng LJ, Kenna MA, Khababa I, Lilley M, Mao R, Muralidharan K, Otani IM, Rehm HL, Schaefer F, Seltzer WK, Spector EB, Springer MA, Weck KE, Wenstrup RJ, Withrow S, Wu BL, Zariwala MA, Schrijver I. Putcha GV, et al. Among authors: weck ke. Genet Med. 2007 Jul;9(7):413-26. Genet Med. 2007. PMID: 17666888 Free article.

3

Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing.

Barker SD, Bale S, Booker J, Buller A, Das S, Friedman K, Godwin AK, Grody WW, Highsmith E, Kant JA, Lyon E, Mao R, Monaghan KG, Payne DA, Pratt VM, Schrijver I, Shrimpton AE, Spector E, Telatar M, Toji L, Weck K, Zehnbauer B, Kalman LV. Barker SD, et al. J Mol Diagn. 2009 Nov;11(6):553-61. doi: 10.2353/jmoldx.2009.090078. Epub 2009 Sep 18. J Mol Diagn. 2009. PMID: 19767587 Free PMC article.

4

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing.

Berg JS, Evans JP, Leigh MW, Omran H, Bizon C, Mane K, Knowles MR, Weck KE, Zariwala MA. Berg JS, et al. Among authors: weck ke. Genet Med. 2011 Mar;13(3):218-29. doi: 10.1097/GIM.0b013e318203cff2. Genet Med. 2011. PMID: 21270641 Free PMC article.

5

Verification of performance specifications of a molecular test: cystic fibrosis carrier testing using the Luminex liquid bead array.

Lacbawan FL, Weck KE, Kant JA, Feldman GL, Schrijver I; Biological and Molecular Genetic Resource Committee of the College of American Pathologists. Lacbawan FL, et al. Among authors: weck ke. Arch Pathol Lab Med. 2012 Jan;136(1):14-9. doi: 10.5858/arpa.2010-0536-OA. Arch Pathol Lab Med. 2012. PMID: 22208482 Free article.

6

Design and analytical validation of clinical DNA sequencing assays.

Pont-Kingdon G, Gedge F, Wooderchak-Donahue W, Schrijver I, Weck KE, Kant JA, Oglesbee D, Bayrak-Toydemir P, Lyon E; Biochemical and Molecular Genetic Resource Committee of the College of American Pathologists. Pont-Kingdon G, et al. Among authors: weck ke. Arch Pathol Lab Med. 2012 Jan;136(1):41-6. doi: 10.5858/arpa.2010-0623-OA. Arch Pathol Lab Med. 2012. PMID: 22208486 Free article.

7

Molecular genetic testing for fragile X syndrome: laboratory performance on the College of American Pathologists proficiency surveys (2001-2009).

Weck KE, Zehnbauer B, Datto M, Schrijver I; CAP/ACMG Biochemical and Molecular Genetics Resource Committee. Weck KE, et al. Genet Med. 2012 Mar;14(3):306-12. doi: 10.1038/gim.2011.11. Epub 2012 Jan 5. Genet Med. 2012. PMID: 22241100 Free article.

8

Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders.

Richards CS, Palomaki GE, Lacbawan FL, Lyon E, Feldman GL; CAP/ACMG Biochemical and Molecular Genetics Resource Committee. Richards CS, et al. Genet Med. 2014 Jan;16(1):25-32. doi: 10.1038/gim.2013.65. Epub 2013 May 23. Genet Med. 2014. PMID: 23703682 Free article.

9

Methods-based proficiency testing in molecular genetic pathology.

Schrijver I, Aziz N, Jennings LJ, Richards CS, Voelkerding KV, Weck KE. Schrijver I, et al. Among authors: weck ke. J Mol Diagn. 2014 May;16(3):283-7. doi: 10.1016/j.jmoldx.2014.02.002. Epub 2014 Mar 18. J Mol Diagn. 2014. PMID: 24650895 Free article.

10

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: weck ke. 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.

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