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Items: 1 to 50 of 99

1.

The Power of Proficiency Testing: Unraveling Single-Nucleotide Polymorphism Interference, With Potential Impact on Clinical Testing of Spinocerebellar Ataxia Type 3.

Ida CM, Lundquist PA, Weck K, Highsmith WE Jr.

Arch Pathol Lab Med. 2018 Nov 1. doi: 10.5858/arpa.2017-0566-OA. [Epub ahead of print]

PMID:
30383393
2.

Applying Standard Clinical Chemistry Assay Validation to Droplet Digital PCR Quantitative Liquid Biopsy Testing.

Milosevic D, Mills JR, Campion MB, Vidal-Folch N, Voss JS, Halling KC, Highsmith WE, Liu MC, Kipp BR, Grebe SKG.

Clin Chem. 2018 Dec;64(12):1732-1742. doi: 10.1373/clinchem.2018.291278. Epub 2018 Sep 20.

PMID:
30237149
3.

A Patient With Hereditary ATTR and a Novel AGel p.Ala578Pro Amyloidosis.

Sridharan M, Highsmith WE, Kurtin PJ, Zimmermann MT, Theis JD, Dasari S, Dingli D.

Mayo Clin Proc. 2018 Nov;93(11):1678-1682. doi: 10.1016/j.mayocp.2018.06.016. Epub 2018 Aug 7.

PMID:
30093168
4.

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.

Cancer Epidemiol Biomarkers Prev. 2018 Nov;27(11):1364-1370. doi: 10.1158/1055-9965.EPI-17-1065. Epub 2018 Jul 23.

PMID:
30038052
5.

Improving Single-Nucleotide Polymorphism-Based Fetal Fraction Estimation of Maternal Plasma Circulating Cell-Free DNA Using Bayesian Hierarchical Models.

Larson NB, Wang C, Na J, Rowsey RA, Highsmith WE, Hoppman NL, Kocher JP, Klee EW.

J Comput Biol. 2018 Sep;25(9):1040-1049. doi: 10.1089/cmb.2018.0056. Epub 2018 Jun 22.

PMID:
29932737
6.

DnaJ Heat Shock Protein Family B Member 9 Is a Novel Biomarker for Fibrillary GN.

Dasari S, Alexander MP, Vrana JA, Theis JD, Mills JR, Negron V, Sethi S, Dispenzieri A, Highsmith WE Jr, Nasr SH, Kurtin PJ.

J Am Soc Nephrol. 2018 Jan;29(1):51-56. doi: 10.1681/ASN.2017030306. Epub 2017 Nov 2.

PMID:
29097623
7.

Cervicomedullary compression as the main manifestation of wild-type transthyretin amyloidosis.

Rezania K, Pytel P, Highsmith WE, Gabikian P.

Amyloid. 2017 Jun;24(2):133-134. doi: 10.1080/13506129.2017.1331907. Epub 2017 May 23. No abstract available.

PMID:
28532173
8.

Apolipoprotein A-IV-Associated Cardiac Amyloidosis.

Bois MC, Dasari S, Mills JR, Theis J, Highsmith WE, Vrana JA, Grogan M, Dispenzieri A, Kurtin PJ, Maleszewski JJ.

J Am Coll Cardiol. 2017 May 2;69(17):2248-2249. doi: 10.1016/j.jacc.2017.02.047. No abstract available.

9.

Offering Prenatal Screening in the Age of Genomic Medicine: A Practical Guide.

Allyse M, Aypar U, Bonhomme N, Darilek S, Dougherty M, Farrell R, Grody W, Highsmith WE, Michie M, Nunes M, Otto L, Pabst R, Palomaki G, Runke C, Sharp RR, Skotko B, Stoll K, Wick M.

J Womens Health (Larchmt). 2017 Jul;26(7):755-761. doi: 10.1089/jwh.2016.6098. Epub 2017 Apr 7.

PMID:
28388340
10.

Complex p.T88N/W130R mutation in the lysozyme gene leading to hereditary lysozyme amyloidosis with biopsy-proven cardiac involvement.

Sperry BW, Dispenzieri A, Ikram A, Grogan M, Theis JD, Leung N, Highsmith WE, Maleszewski JJ, Hanna M.

Amyloid. 2017 Mar;24(1):60-61. doi: 10.1080/13506129.2016.1269738. Epub 2017 Mar 22. No abstract available.

PMID:
28330375
11.

Hereditary Lysozyme Amyloidosis Variant p.Leu102Ser Associates with Unique Phenotype.

Nasr SH, Dasari S, Mills JR, Theis JD, Zimmermann MT, Fonseca R, Vrana JA, Lester SJ, McLaughlin BM, Gillespie R, Highsmith WE Jr, Lee JJ, Dispenzieri A, Kurtin PJ.

J Am Soc Nephrol. 2017 Feb;28(2):431-438. doi: 10.1681/ASN.2016090951. Epub 2017 Jan 3.

12.

Mitochondrial DNA sequence data reveals association of haplogroup U with psychosis in bipolar disorder.

Frye MA, Ryu E, Nassan M, Jenkins GD, Andreazza AC, Evans JM, McElroy SL, Oglesbee D Jr, Highsmith WE, Biernacka JM.

J Psychiatr Res. 2017 Jan;84:221-226. doi: 10.1016/j.jpsychires.2016.09.027. Epub 2016 Sep 30.

PMID:
27770741
13.

Novel Type of Renal Amyloidosis Derived from Apolipoprotein-CII.

Nasr SH, Dasari S, Hasadsri L, Theis JD, Vrana JA, Gertz MA, Muppa P, Zimmermann MT, Grogg KL, Dispenzieri A, Sethi S, Highsmith WE Jr, Merlini G, Leung N, Kurtin PJ.

J Am Soc Nephrol. 2017 Feb;28(2):439-445. doi: 10.1681/ASN.2015111228. Epub 2016 Jun 13.

14.

False Negative Cell-Free DNA Screening Result in a Newborn with Trisomy 13.

Cao Y, Hoppman NL, Kerr SE, Sattler CA, Borowski KS, Wick MJ, Highsmith WE, Aypar U.

Case Rep Genet. 2016;2016:7397405. doi: 10.1155/2016/7397405. Epub 2016 Feb 22.

15.

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.

Mayo Clin Proc. 2015 Oct;90(10):1327-37. doi: 10.1016/j.mayocp.2015.05.021.

PMID:
26434960
16.

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.

J Mol Diagn. 2015 Nov;17(6):689-94. doi: 10.1016/j.jmoldx.2015.07.002. Epub 2015 Aug 28.

PMID:
26321041
17.

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.

Invest Ophthalmol Vis Sci. 2015 Jul;56(8):4865-9. doi: 10.1167/iovs.15-17082.

PMID:
26218914
18.

Targeting the hypoxia pathway to treat pancreatic cancer.

Erickson LA, Highsmith WE Jr, Fei P, Zhang J.

Drug Des Devel Ther. 2015 Apr 8;9:2029-31. doi: 10.2147/DDDT.S80888. eCollection 2015.

19.

Clinical investigational studies for validation of a next-generation sequencing in vitro diagnostic device for cystic fibrosis testing.

Grosu DS, Hague L, Chelliserry M, Kruglyak KM, Lenta R, Klotzle B, San J, Goldstein WM, Moturi S, Devers P, Woolworth J, Peters E, Elashoff B, Stoerker J, Wolff DJ, Friedman KJ, Highsmith WE, Lin E, Ong FS.

Expert Rev Mol Diagn. 2014 Jun;14(5):605-22. doi: 10.1586/14737159.2014.916618.

PMID:
24844137
20.

Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.

Dasari S, Theis JD, Vrana JA, Zenka RM, Zimmermann MT, Kocher JP, Highsmith WE Jr, Kurtin PJ, Dogan A.

J Proteome Res. 2014 May 2;13(5):2352-8. doi: 10.1021/pr4011475. Epub 2014 Apr 3.

PMID:
24650283
21.

A compound T60A and V122I heterozygosity in the transthyretin gene causing early onset severe cardiac amyloidosis.

Liu YC, Reddi HV, Waheed S, Alapat D, Highsmith WE, Edmondson RD, Barlogie B, van Rhee F.

Amyloid. 2014 Jun;21(2):134-5. doi: 10.3109/13506129.2014.883373. Epub 2014 Feb 11. No abstract available.

PMID:
24517438
22.

Discordant results between biochemical and molecular transthyretin assays: lessons learned from a unique testing algorithm at the Mayo Clinic.

Reddi HV, Thomas BC, Willkomm KS, Ferber MJ, Rumilla KM, Raymond KM, O'Brien JF, Highsmith WE.

J Genet. 2013 Dec;92(3):599-604. No abstract available.

23.

Homozygosity for the V122I mutation in transthyretin is associated with earlier onset of cardiac amyloidosis in the African American population in the seventh decade of life.

Reddi HV, Jenkins S, Theis J, Thomas BC, Connors LH, Van Rhee F, Highsmith WE Jr.

J Mol Diagn. 2014 Jan;16(1):68-74. doi: 10.1016/j.jmoldx.2013.08.001. Epub 2013 Oct 30.

PMID:
24184229
24.

Systemic transthyretin amyloidosis in a patient with bent spine syndrome.

Rezania K, Pytel P, Smit LJ, Mastrianni J, Dina MA, Highsmith WE, Dogan A.

Amyloid. 2013 Jun;20(2):131-4. doi: 10.3109/13506129.2013.792248. Epub 2013 May 2.

PMID:
23638719
25.

Molecular profiling of cholangiocarcinoma shows potential for targeted therapy treatment decisions.

Voss JS, Holtegaard LM, Kerr SE, Fritcher EG, Roberts LR, Gores GJ, Zhang J, Highsmith WE, Halling KC, Kipp BR.

Hum Pathol. 2013 Jul;44(7):1216-22. doi: 10.1016/j.humpath.2012.11.006. Epub 2013 Feb 4.

PMID:
23391413
26.

Neurodevelopmental disabilities in children with intermediate and premutation range fragile X cytosine-guanine-guanine expansions.

Renda MM, Voigt RG, Babovic-Vuksanovic D, Highsmith WE, Vinson SS, Sadowski CM, Hagerman RJ.

J Child Neurol. 2014 Mar;29(3):326-30. doi: 10.1177/0883073812469723. Epub 2012 Dec 23.

PMID:
23266944
27.

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.

PLoS One. 2012;7(11):e49083. doi: 10.1371/journal.pone.0049083. Epub 2012 Nov 21.

28.

Multisite validation study to determine performance characteristics of a 92-gene molecular cancer classifier.

Kerr SE, Schnabel CA, Sullivan PS, Zhang Y, Singh V, Carey B, Erlander MG, Highsmith WE, Dry SM, Brachtel EF.

Clin Cancer Res. 2012 Jul 15;18(14):3952-60. doi: 10.1158/1078-0432.CCR-12-0920. Epub 2012 May 30.

29.

Isocitrate dehydrogenase 1 and 2 mutations in cholangiocarcinoma.

Kipp BR, Voss JS, Kerr SE, Barr Fritcher EG, Graham RP, Zhang L, Highsmith WE, Zhang J, Roberts LR, Gores GJ, Halling KC.

Hum Pathol. 2012 Oct;43(10):1552-8. doi: 10.1016/j.humpath.2011.12.007. Epub 2012 Apr 12.

PMID:
22503487
30.

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

Medeiros F, Lindor NM, Couch FJ, 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.

31.

Development and clinical implementation of a combination deletion PCR and multiplex ligation-dependent probe amplification assay for detecting deletions involving the human α-globin gene cluster.

Kipp BR, Roellinger SE, Lundquist PA, Highsmith WE, Dawson DB.

J Mol Diagn. 2011 Sep;13(5):549-57. doi: 10.1016/j.jmoldx.2011.04.001. Epub 2011 Jun 25.

32.

Hereditary hemochromatosis: laboratory evaluation.

Moyer TP, Highsmith WE, Smyrk TC, Gross JB Jr.

Clin Chim Acta. 2011 Aug 17;412(17-18):1485-92. doi: 10.1016/j.cca.2011.04.007. Epub 2011 Apr 13. Review.

PMID:
21510925
33.

Detailed molecular fingerprinting of four new anaplastic thyroid carcinoma cell lines and their use for verification of RhoB as a molecular therapeutic target.

Marlow LA, D'Innocenzi J, Zhang Y, Rohl SD, Cooper SJ, Sebo T, Grant C, McIver B, Kasperbauer JL, Wadsworth JT, Casler JD, Kennedy PW, Highsmith WE, Clark O, Milosevic D, Netzel B, Cradic K, Arora S, Beaudry C, Grebe SK, Silverberg ML, Azorsa DO, Smallridge RC, Copland JA.

J Clin Endocrinol Metab. 2010 Dec;95(12):5338-47. doi: 10.1210/jc.2010-1421. Epub 2010 Sep 1. Erratum in: J Clin Endocrinol Metab. 2013 Oct;98(10):4213. J Clin Endocrinol Metab. 2013 Nov;98(11):4546.

34.

The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model.

Farkas DH, Miltgen NE, Stoerker J, van den Boom D, Highsmith WE, Cagasan L, McCullough R, Mueller R, Tang L, Tynan J, Tate C, Bombard A.

J Mol Diagn. 2010 Sep;12(5):611-9. doi: 10.2353/jmoldx.2010.090233. Epub 2010 Jul 8.

35.

Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing.

Smith EH, Thomas C, McHugh D, Gavrilov D, Raymond K, Rinaldo P, Tortorelli S, Matern D, Highsmith WE, Oglesbee D.

Mol Genet Metab. 2010 Jul;100(3):241-50. doi: 10.1016/j.ymgme.2010.04.001. Epub 2010 Apr 8.

PMID:
20434380
36.

Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and risk for pancreatic adenocarcinoma.

McWilliams RR, Petersen GM, Rabe KG, Holtegaard LM, Lynch PJ, Bishop MD, Highsmith WE Jr.

Cancer. 2010 Jan 1;116(1):203-9. doi: 10.1002/cncr.24697.

37.

Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent.

Kalman L, Wilson JA, Buller A, Dixon J, Edelmann L, Geller L, Highsmith WE, Holtegaard L, Kornreich R, Rohlfs EM, Payeur TL, Sellers T, Toji L, Muralidharan K.

J Mol Diagn. 2009 Nov;11(6):530-6. doi: 10.2353/jmoldx.2009.090050. Epub 2009 Oct 8.

38.

Development of genomic reference materials for cystic fibrosis genetic testing.

Pratt VM, Caggana M, Bridges C, Buller AM, DiAntonio L, Highsmith WE, Holtegaard LM, Muralidharan K, Rohlfs EM, Tarleton J, Toji L, Barker SD, Kalman LV.

J Mol Diagn. 2009 May;11(3):186-93. doi: 10.2353/jmoldx.2009.080149. Epub 2009 Apr 9.

39.

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.

Curr Protoc Hum Genet. 2007 Oct;Chapter 3:Unit 3.6. doi: 10.1002/0471142905.hg0306s55.

PMID:
18428411
40.

Solid phase and solution synthesis of NvocLys(CO(CH2)5NH-NBD)OCH2CN, a trifunctional fluorescent lysine derivative.

Patkar KA, Highsmith WE, Aldrich JV.

Amino Acids. 2009 Feb;36(2):203-7. doi: 10.1007/s00726-008-0048-3. Epub 2008 Mar 26.

PMID:
18365133
41.

Consensus characterization of 16 FMR1 reference materials: a consortium study.

Amos Wilson J, Pratt VM, Phansalkar A, Muralidharan K, Highsmith WE Jr, Beck JC, Bridgeman S, Courtney EM, Epp L, Ferreira-Gonzalez A, Hjelm NL, Holtegaard LM, Jama MA, Jakupciak JP, Johnson MA, Labrousse P, Lyon E, Prior TW, Richards CS, Richie KL, Roa BB, Rohlfs EM, Sellers T, Sherman SL, Siegrist KA, Silverman LM, Wiszniewska J, Kalman LV; Fragile Xperts Working Group of the Association for Molecular Pathology Clinical Practice Committee.

J Mol Diagn. 2008 Jan;10(1):2-12. doi: 10.2353/jmoldx.2008.070105. Epub 2007 Dec 28. Erratum in: J Mol Diagn. 2009 Sep 1;11(5):494.

42.

LOC387715/HTRA1 and complement factor H variants in patients with age-related macular degeneration seen at the mayo clinic.

Pulido JS, Peterson LM, Mutapcic L, Bryant S, Highsmith WE.

Ophthalmic Genet. 2007 Dec;28(4):203-7.

PMID:
18161619
43.

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.

Clin Biochem. 2007 Jun;40(9-10):710-7. Epub 2007 Mar 23.

PMID:
17459361
44.

RET proto-oncogene genotyping using unlabeled probes, the masking technique, and amplicon high-resolution melting analysis.

Margraf RL, Mao R, Highsmith WE, Holtegaard LM, Wittwer CT.

J Mol Diagn. 2007 Apr;9(2):184-96.

45.

Relationship between age-related macular degeneration-associated variants of complement factor H and LOC387715 with coronary artery disease.

Pulido JS, McConnell JP, Lennon RJ, Bryant SC, Peterson LM, Berger PB, Somers V, Highsmith WE.

Mayo Clin Proc. 2007 Mar;82(3):301-7.

PMID:
17352366
46.

Homozygous transthyretin mutation in an African American Male.

Jacob EK, Edwards WD, Zucker M, D'Cruz C, Seshan SV, Crow FW, Highsmith WE.

J Mol Diagn. 2007 Feb;9(1):127-31.

47.

A splice-site mutation in CCM1/KRIT1 is associated with retinal and cerebral cavernous hemangioma.

Kitzmann AS, Pulido JS, Ferber MJ, Highsmith WE, Babovic-Vuksanovic D.

Ophthalmic Genet. 2006 Dec;27(4):157-9.

PMID:
17148043
48.

Molecular diagnosis of Beckwith-Wiedemann syndrome using quantitative methylation-sensitive polymerase chain reaction.

Coffee B, Muralidharan K, Highsmith WE Jr, Lapunzina P, Warren ST.

Genet Med. 2006 Oct;8(10):628-34.

PMID:
17079879
49.

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.

Clin Chem. 2006 Dec;52(12):2236-42. Epub 2006 Oct 19. Erratum in: Clin Chem. 2007 Sep;53(9):1724. Wiley, Carmen [added].

50.

Introduction to molecular cystic fibrosis testing.

Uphoff TS, Highsmith WE Jr.

Clin Lab Sci. 2006 Winter;19(1):24-31.

PMID:
16617555

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