Weck KE - Search Results

1

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.

2

Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.

Patterson V, Ullah F, Bryant L, Griffin JN, Sidhu A, Saliganan S, Blaile M, Saenz MS, Smith R, Ellingwood S, Grange DK, Hu X, Mireguli M, Luo Y, Shen Y, Mulhern M, Zackai E, Ritter A, Izumi K, Hoefele J, Wagner M, Riedhammer KM, Seitz B, Robin NH, Goodloe D, Mignot C, Keren B, Cox H, Jarvis J, Hempel M, Gibson CF, Tran Mau-Them F, Vitobello A, Bruel AL, Sorlin A, Mehta S, Raymond FL, Gilmore K, Powell BC, Weck K, Li C, Vulto-van Silfhout AT, Giacomini T, Mancardi MM, Accogli A, Salpietro V, Zara F, Vora NL, Davis EE, Burdine R, Bhoj E. Patterson V, et al. Sci Adv. 2023 Apr 28;9(17):eade0631. doi: 10.1126/sciadv.ade0631. Epub 2023 Apr 26. Sci Adv. 2023. PMID: 37126546 Free PMC article.

3

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.

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

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

6

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.

7

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.

8

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.

9

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.

10

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.

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