Highsmith WE - Search Results

1

A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy.

Wieben ED, Aleff RA, Tosakulwong N, Butz ML, Highsmith WE, Edwards AO, Baratz KH. Wieben ED, et al. Among authors: highsmith we. PLoS One. 2012;7(11):e49083. doi: 10.1371/journal.pone.0049083. Epub 2012 Nov 21. PLoS One. 2012. PMID: 23185296 Free PMC article.

2

Trinucleotide Repeat Expansion in the TCF4 Gene in Fuchs' Endothelial Corneal Dystrophy in Japanese.

Nakano M, Okumura N, Nakagawa H, Koizumi N, Ikeda Y, Ueno M, Yoshii K, Adachi H, Aleff RA, Butz ML, Highsmith WE, Tashiro K, Wieben ED, Kinoshita S, Baratz KH. Nakano M, et al. Among authors: highsmith we. Invest Ophthalmol Vis Sci. 2015 Jul;56(8):4865-9. doi: 10.1167/iovs.15-17082. Invest Ophthalmol Vis Sci. 2015. PMID: 26218914

3

SERPINA1 Full-Gene Sequencing Identifies Rare Mutations Not Detected in Targeted Mutation Analysis.

Graham RP, Dina MA, Howe SC, Butz ML, Willkomm KS, Murray DL, Snyder MR, Rumilla KM, Halling KC, Highsmith WE Jr. Graham RP, et al. Among authors: highsmith we jr. J Mol Diagn. 2015 Nov;17(6):689-94. doi: 10.1016/j.jmoldx.2015.07.002. Epub 2015 Aug 28. J Mol Diagn. 2015. PMID: 26321041 Free article.

4

Whole-Exome Sequencing of 10 Scientists: Evaluation of the Process and Outcomes.

Lindor NM, Schahl KA, Johnson KJ, Hunt KS, Mensink KA, Wieben ED, Klee E, Black JL, Highsmith WE Jr, Thibodeau SN, Ferber MJ, Aypar U, Ji Y, Graham RP, Fiksdal AS, Sarangi V, Ormond KE, Riegert-Johnson DL, McAllister TM, Farrugia G, McCormick JB. Lindor NM, et al. Among authors: highsmith we jr. Mayo Clin Proc. 2015 Oct;90(10):1327-37. doi: 10.1016/j.mayocp.2015.05.021. Mayo Clin Proc. 2015. PMID: 26434960

5

CDKN2A Germline Rare Coding Variants and Risk of Pancreatic Cancer in Minority Populations.

McWilliams RR, Wieben ED, Chaffee KG, Antwi SO, Raskin L, Olopade OI, Li D, Highsmith WE Jr, Colon-Otero G, Khanna LG, Permuth JB, Olson JE, Frucht H, Genkinger J, Zheng W, Blot WJ, Wu L, Almada LL, Fernandez-Zapico ME, Sicotte H, Pedersen KS, Petersen GM. McWilliams RR, et al. Among authors: highsmith we jr. Cancer Epidemiol Biomarkers Prev. 2018 Nov;27(11):1364-1370. doi: 10.1158/1055-9965.EPI-17-1065. Epub 2018 Jul 23. Cancer Epidemiol Biomarkers Prev. 2018. PMID: 30038052 Free PMC article.

6

Diagnosis of alpha-1-antitrypsin deficiency: An algorithm of quantification, genotyping, and phenotyping.

Snyder MR, Katzmann JA, Butz ML, Wiley C, Yang P, Dawson DB, Halling KC, Highsmith WE, Thibodeau SN. Snyder MR, et al. Among authors: highsmith we. Clin Chem. 2006 Dec;52(12):2236-42. doi: 10.1373/clinchem.2006.072991. Epub 2006 Oct 19. Clin Chem. 2006. PMID: 17053153

7

First Report of Bilateral External Auditory Canal Cochlin Aggregates ("Cochlinomas") with Multifocal Amyloid-Like Deposits, Associated with Sensorineural Hearing Loss and a Novel Genetic Variant in COCH Encoding Cochlin.

Basu A, Boczek NJ, Robertson NG, Nasr SH, Jethanamest D, McPhail ED, Kurtin PJ, Dasari S, Butz M, Morton CC, Highsmith WE, Zhou F. Basu A, et al. Among authors: highsmith we. Head Neck Pathol. 2020 Sep;14(3):808-816. doi: 10.1007/s12105-019-01073-7. Epub 2019 Sep 6. Head Neck Pathol. 2020. PMID: 31493294 Free PMC article.

8

The germline MLH1 K618A variant and susceptibility to Lynch syndrome-associated tumors.

Medeiros F, Lindor NM, Couch FJ, Highsmith WE Jr. Medeiros F, et al. Among authors: highsmith we jr. J Mol Diagn. 2012 May-Jun;14(3):264-73. doi: 10.1016/j.jmoldx.2012.01.006. Epub 2012 Mar 13. J Mol Diagn. 2012. PMID: 22426235 Free PMC article.

9

Comparison of three methods for genotyping the UGT1A1 (TA)n repeat polymorphism.

Baudhuin LM, Highsmith WE, Skierka J, Holtegaard L, Moore BE, O'Kane DJ. Baudhuin LM, et al. Among authors: highsmith we. Clin Biochem. 2007 Jun;40(9-10):710-7. doi: 10.1016/j.clinbiochem.2007.03.007. Epub 2007 Mar 23. Clin Biochem. 2007. PMID: 17459361

10

Conversion Technology for the separation of maternal and paternal copies of any autosomal chromosome in somatic cell hybrids.

Highsmith WE Jr, Meyer KJ, Marley VM, Jenkins RB. Highsmith WE Jr, et al. Curr Protoc Hum Genet. 2007 Oct;Chapter 3:Unit 3.6. doi: 10.1002/0471142905.hg0306s55. Curr Protoc Hum Genet. 2007. PMID: 18428411

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