Weck KE - Search Results

1

A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing.

Berg JS, Foreman AK, O'Daniel JM, Booker JK, Boshe L, Carey T, Crooks KR, Jensen BC, Juengst ET, Lee K, Nelson DK, Powell BC, Powell CM, Roche MI, Skrzynia C, Strande NT, Weck KE, Wilhelmsen KC, Evans JP. Berg JS, et al. Among authors: weck ke. Genet Med. 2016 May;18(5):467-75. doi: 10.1038/gim.2015.104. Epub 2015 Aug 13. Genet Med. 2016. PMID: 26270767 Free PMC article.

2

Diagnosis of human congenital cytomegalovirus infection by amplification of viral DNA from dried blood spots on perinatal cards.

Scanga L, Chaing S, Powell C, Aylsworth AS, Harrell LJ, Henshaw NG, Civalier CJ, Thorne LB, Weck K, Booker J, Gulley ML. Scanga L, et al. J Mol Diagn. 2006 May;8(2):240-5. doi: 10.2353/jmoldx.2006.050075. J Mol Diagn. 2006. PMID: 16645211 Free PMC article.

3

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.

4

Validation of clinical testing for warfarin sensitivity: comparison of CYP2C9-VKORC1 genotyping assays and warfarin-dosing algorithms.

Langley MR, Booker JK, Evans JP, McLeod HL, Weck KE. Langley MR, et al. Among authors: weck ke. J Mol Diagn. 2009 May;11(3):216-25. doi: 10.2353/jmoldx.2009.080123. Epub 2009 Mar 26. J Mol Diagn. 2009. PMID: 19324988 Free PMC article.

5

Evolving molecular diagnostics for familial cardiomyopathies: at the heart of it all.

Callis TE, Jensen BC, Weck KE, Willis MS. Callis TE, et al. Among authors: weck ke. Expert Rev Mol Diagn. 2010 Apr;10(3):329-51. doi: 10.1586/erm.10.13. Expert Rev Mol Diagn. 2010. PMID: 20370590 Free PMC article. Review.

6

Sensorineural hearing loss in a pediatric population: association of congenital cytomegalovirus infection with intracranial abnormalities.

Kimani JW, Buchman CA, Booker JK, Huang BY, Castillo M, Powell CM, Weck KE. Kimani JW, et al. Among authors: weck ke. Arch Otolaryngol Head Neck Surg. 2010 Oct;136(10):999-1004. doi: 10.1001/archoto.2010.156. Arch Otolaryngol Head Neck Surg. 2010. PMID: 20956747

7

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.

8

Genotype-guided tamoxifen dosing increases active metabolite exposure in women with reduced CYP2D6 metabolism: a multicenter study.

Irvin WJ Jr, Walko CM, Weck KE, Ibrahim JG, Chiu WK, Dees EC, Moore SG, Olajide OA, Graham ML, Canale ST, Raab RE, Corso SW, Peppercorn JM, Anderson SM, Friedman KJ, Ogburn ET, Desta Z, Flockhart DA, McLeod HL, Evans JP, Carey LA. Irvin WJ Jr, et al. Among authors: weck ke. J Clin Oncol. 2011 Aug 20;29(24):3232-9. doi: 10.1200/JCO.2010.31.4427. Epub 2011 Jul 18. J Clin Oncol. 2011. PMID: 21768473 Free PMC article.

9

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.

10

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.

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