Weck KE - Search Results

1

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.

O'Daniel JM, McLaughlin HM, Amendola LM, Bale SJ, Berg JS, Bick D, Bowling KM, Chao EC, Chung WK, Conlin LK, Cooper GM, Das S, Deignan JL, Dorschner MO, Evans JP, Ghazani AA, Goddard KA, Gornick M, Farwell Hagman KD, Hambuch T, Hegde M, Hindorff LA, Holm IA, Jarvik GP, Knight Johnson A, Mighion L, Morra M, Plon SE, Punj S, Richards CS, Santani A, Shirts BH, Spinner NB, Tang S, Weck KE, Wolf SM, Yang Y, Rehm HL. O'Daniel JM, et al. Among authors: weck ke. Genet Med. 2017 May;19(5):575-582. doi: 10.1038/gim.2016.152. Epub 2016 Nov 3. Genet Med. 2017. PMID: 27811861 Free PMC article.

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

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.

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

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.

6

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.

7

A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record.

Tarczy-Hornoch P, Amendola L, Aronson SJ, Garraway L, Gray S, Grundmeier RW, Hindorff LA, Jarvik G, Karavite D, Lebo M, Plon SE, Van Allen E, Weck KE, White PS, Yang Y. Tarczy-Hornoch P, et al. Among authors: weck ke. Genet Med. 2013 Oct;15(10):824-32. doi: 10.1038/gim.2013.120. Epub 2013 Sep 26. Genet Med. 2013. PMID: 24071794 Free PMC article.

8

GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia.

Fan Z, Greenwood R, Felix AC, Shiloh-Malawsky Y, Tennison M, Roche M, Crooks K, Weck K, Wilhelmsen K, Berg J, Evans J. Fan Z, et al. J Neurol. 2014 Mar;261(3):622-4. doi: 10.1007/s00415-014-7265-3. Epub 2014 Feb 8. J Neurol. 2014. PMID: 24509643 Free PMC article. No abstract available.

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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