Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 55

1.

Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVar.

Baudhuin LM, Kluge ML, Kotzer KE, Lagerstedt SA.

Eur J Hum Genet. 2019 Oct;27(10):1550-1560. doi: 10.1038/s41431-019-0440-3. Epub 2019 Jun 21.

PMID:
31227806
2.

Clopidogrel Pharmacogenetics.

Pereira NL, Rihal CS, So DYF, Rosenberg Y, Lennon RJ, Mathew V, Goodman SG, Weinshilboum RM, Wang L, Baudhuin LM, Lerman A, Hasan A, Iturriaga E, Fu YP, Geller N, Bailey K, Farkouh ME.

Circ Cardiovasc Interv. 2019 Apr;12(4):e007811. doi: 10.1161/CIRCINTERVENTIONS.119.007811.

PMID:
30998396
3.

Privacy in Direct-to-Consumer Genetic Testing.

Park JY, Risher MT, Caulfield T, Baudhuin LM, Schwab AP.

Clin Chem. 2019 May;65(5):612-617. doi: 10.1373/clinchem.2018.298935. Epub 2019 Feb 28. No abstract available.

PMID:
30819664
4.

International survey of patients undergoing percutaneous coronary intervention and their attitudes toward pharmacogenetic testing.

Pereira NL, So D, Bae JH, Chavez I, Jeong MH, Kim SW, Madan M, Graham J, O'Cochlain F, Pauley N, Lennon RJ, Bailey K, Hasan A, Baudhuin LM, Bell MR, Lerman A, Goodman S, Mathew V, Farkouh M, Rihal CS.

Pharmacogenet Genomics. 2019 Jun;29(4):76-83. doi: 10.1097/FPC.0000000000000368.

PMID:
30724853
5.

Plasma Ceramides.

Meeusen JW, Donato LJ, Bryant SC, Baudhuin LM, Berger PB, Jaffe AS.

Arterioscler Thromb Vasc Biol. 2018 Aug;38(8):1933-1939. doi: 10.1161/ATVBAHA.118.311199.

PMID:
29903731
6.

Technical Advances for the Clinical Genomic Evaluation of Sudden Cardiac Death: Verification of Next-Generation Sequencing Panels for Hereditary Cardiovascular Conditions Using Formalin-Fixed Paraffin-Embedded Tissues and Dried Blood Spots.

Baudhuin LM, Leduc C, Train LJ, Avula R, Kluge ML, Kotzer KE, Lin PT, Ackerman MJ, Maleszewski JJ.

Circ Cardiovasc Genet. 2017 Dec;10(6). pii: e001844. doi: 10.1161/CIRCGENETICS.117.001844.

PMID:
29237689
7.

Genetic variation in statin intolerance and a possible protective role for UGT1A1.

V Willrich MA, Kaleta EJ, Bryant SC, Spears GM, Train LJ, Peterson SE, Lennon VA, Kopecky SL, Baudhuin LM.

Pharmacogenomics. 2018 Jan;19(2):83-94. doi: 10.2217/pgs-2017-0146. Epub 2017 Dec 6.

PMID:
29210320
8.

Clinical UGT1A1 Genetic Analysis in Pediatric Patients: Experience of a Reference Laboratory.

Moyer AM, Skierka JM, Kotzer KE, Kluge ML, Black JL, Baudhuin LM.

Mol Diagn Ther. 2017 Jun;21(3):327-335. doi: 10.1007/s40291-017-0265-0.

PMID:
28213806
9.

Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals.

Safarova MS, Klee EW, Baudhuin LM, Winkler EM, Kluge ML, Bielinski SJ, Olson JE, Kullo IJ.

Eur J Hum Genet. 2017 Apr;25(4):410-415. doi: 10.1038/ejhg.2016.193. Epub 2017 Feb 1.

10.

Miniaturized Nanopore DNA Sequencing: Accelerating the Path to Precision Medicine.

Baudhuin LM, Ferber MJ.

Clin Chem. 2017 Mar;63(3):632-634. doi: 10.1373/clinchem.2016.261420. Epub 2017 Jan 11. No abstract available.

11.

Effect of genetic variants of bilirubin metabolism on the degree of hyperbilirubinemia in African-American newborns.

Schutzman DL, Baudhuin LM, Gatien E, Ajayi S, Wong RJ.

J Perinatol. 2017 Apr;37(4):432-435. doi: 10.1038/jp.2016.232. Epub 2016 Dec 15.

PMID:
27977017
12.

Preemptive Pharmacogenomic Testing for Precision Medicine: A Comprehensive Analysis of Five Actionable Pharmacogenomic Genes Using Next-Generation DNA Sequencing and a Customized CYP2D6 Genotyping Cascade.

Ji Y, Skierka JM, Blommel JH, Moore BE, VanCuyk DL, Bruflat JK, Peterson LM, Veldhuizen TL, Fadra N, Peterson SE, Lagerstedt SA, Train LJ, Baudhuin LM, Klee EW, Ferber MJ, Bielinski SJ, Caraballo PJ, Weinshilboum RM, Black JL 3rd.

J Mol Diagn. 2016 May;18(3):438-445. doi: 10.1016/j.jmoldx.2016.01.003. Epub 2016 Mar 3.

13.

Classifying Germline Sequence Variants in the Era of Next-Generation Sequencing.

Baudhuin LM, Funke BH, Bean LH, Deignan JL, Hofherr S, Miller DT, Nagan N, Santani A, Saunders C.

Clin Chem. 2016 Jun;62(6):799-806. doi: 10.1373/clinchem.2015.247874. Epub 2016 Feb 9. No abstract available.

14.

"Big Data" in Laboratory Medicine.

Tolan NV, Parnas ML, Baudhuin LM, Cervinski MA, Chan AS, Holmes DT, Horowitz G, Klee EW, Kumar RB, Master SR.

Clin Chem. 2015 Dec;61(12):1433-40. doi: 10.1373/clinchem.2015.248591. Epub 2015 Oct 20. No abstract available.

15.

What Is the True Prevalence of Hypertrophic Cardiomyopathy?

Baudhuin LM, Kotzer KE, Kluge ML, Maleszewski JJ.

J Am Coll Cardiol. 2015 Oct 20;66(16):1845-1846. doi: 10.1016/j.jacc.2015.07.074. No abstract available.

16.

Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing.

Baudhuin LM, Lagerstedt SA, Klee EW, Fadra N, Oglesbee D, Ferber MJ.

J Mol Diagn. 2015 Jul;17(4):456-61. doi: 10.1016/j.jmoldx.2015.03.004. Epub 2015 May 8.

PMID:
25960255
17.

Relationship of genetic variation in the serotonin transporter gene (SLC6A4) and congenital and acquired cardiovascular diseases.

Moyer AM, Walker DL, Avula R, Lapid MI, Kung S, Bryant SC, Edwards KK, Black JL, Karpyak VM, Shinozaki G, Jowsey-Gregoire SG, Ehlers SL, Romanowicz M, Litzow MR, Hogan WJ, Rundell JR, Hooten WM, Baudhuin LM.

Genet Test Mol Biomarkers. 2015 Mar;19(3):115-23. doi: 10.1089/gtmb.2014.0250. Epub 2015 Feb 11.

PMID:
25671637
18.

Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants.

Baudhuin LM, Kotzer KE, Lagerstedt SA.

J Hum Genet. 2015 May;60(5):241-52. doi: 10.1038/jhg.2015.10. Epub 2015 Feb 5.

PMID:
25652356
19.

Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.

Baudhuin LM, Kotzer KE, Lagerstedt SA.

Genet Med. 2015 Mar;17(3):177-87. doi: 10.1038/gim.2014.91. Epub 2014 Aug 7.

PMID:
25101912
20.

The FDA and 23andMe: violating the First Amendment or protecting the rights of consumers?

Baudhuin LM.

Clin Chem. 2014 Jun;60(6):835-7. doi: 10.1373/clinchem.2014.223321. Epub 2014 May 1. No abstract available.

21.

Genetic and biochemical analyses in dyslipidemic patients undergoing LDL apheresis.

Donato LJ, Saenger AK, Train LJ, Kotzer KE, Lagerstedt SA, Hornseth JM, Basu A, Winters JL, Baudhuin LM.

J Clin Apher. 2014 Oct;29(5):256-65. doi: 10.1002/jca.21317. Epub 2014 Jan 13.

PMID:
24420163
22.

Preemptive genotyping for personalized medicine: design of the right drug, right dose, right time-using genomic data to individualize treatment protocol.

Bielinski SJ, Olson JE, Pathak J, Weinshilboum RM, Wang L, Lyke KJ, Ryu E, Targonski PV, Van Norstrand MD, Hathcock MA, Takahashi PY, McCormick JB, Johnson KJ, Maschke KJ, Rohrer Vitek CR, Ellingson MS, Wieben ED, Farrugia G, Morrisette JA, Kruckeberg KJ, Bruflat JK, Peterson LM, Blommel JH, Skierka JM, Ferber MJ, Black JL, Baudhuin LM, Klee EW, Ross JL, Veldhuizen TL, Schultz CG, Caraballo PJ, Freimuth RR, Chute CG, Kullo IJ.

Mayo Clin Proc. 2014 Jan;89(1):25-33. doi: 10.1016/j.mayocp.2013.10.021.

23.

PCSK9 and the road less traveled: how an unconventional approach led to a major discovery.

Willrich MA, Baudhuin LM.

Clin Chem. 2013 Aug;59(8):1283-4. No abstract available.

24.

Quality guidelines for next-generation sequencing.

Baudhuin LM.

Clin Chem. 2013 May;59(5):858-9. No abstract available.

25.

Effects of atorvastatin on CYP3A4 and CYP3A5 mRNA expression in mononuclear cells and CYP3A activity in hypercholeresterolemic patients.

Willrich MA, Rodrigues AC, Cerda A, Genvigir FD, Arazi SS, Dorea EL, Bernik MM, Bertolami MC, Faludi A, Largura A, Baudhuin LM, Bryant SC, Hirata MH, Hirata RD.

Clin Chim Acta. 2013 Jun 5;421:157-63. doi: 10.1016/j.cca.2013.03.007. Epub 2013 Mar 15.

26.

UGT1A1 genetic analysis as a diagnostic aid for individuals with unconjugated hyperbilirubinemia.

Skierka JM, Kotzer KE, Lagerstedt SA, O'Kane DJ, Baudhuin LM.

J Pediatr. 2013 Jun;162(6):1146-52, 1152.e1-2. doi: 10.1016/j.jpeds.2012.11.042. Epub 2013 Jan 4.

PMID:
23290513
27.

A new era of genetic testing and its impact on research and clinical care.

Baudhuin LM.

Clin Chem. 2012 Jun;58(6):1070-1. No abstract available.

28.

How novel molecular diagnostic technologies and biomarkers are revolutionizing genetic testing and patient care.

Baudhuin LM, Donato LJ, Uphoff TS.

Expert Rev Mol Diagn. 2012 Jan;12(1):25-37. doi: 10.1586/ERM.11.85.

PMID:
22133117
29.

Prevalence and spectrum of large deletions or duplications in the major long QT syndrome-susceptibility genes and implications for long QT syndrome genetic testing.

Tester DJ, Benton AJ, Train L, Deal B, Baudhuin LM, Ackerman MJ.

Am J Cardiol. 2010 Oct 15;106(8):1124-8. doi: 10.1016/j.amjcard.2010.06.022.

30.

Determining the optimal approach for government-regulated genetic testing.

Baudhuin LM.

Clin Chem. 2011 Jan;57(1):7-8. doi: 10.1373/clinchem.2010.156687. Epub 2010 Sep 27. No abstract available.

31.

Relation of ADRB1, CYP2D6, and UGT1A1 polymorphisms with dose of, and response to, carvedilol or metoprolol therapy in patients with chronic heart failure.

Baudhuin LM, Miller WL, Train L, Bryant S, Hartman KA, Phelps M, Larock M, Jaffe AS.

Am J Cardiol. 2010 Aug 1;106(3):402-8. doi: 10.1016/j.amjcard.2010.03.041.

PMID:
20643254
32.

Genetic markers for coronary artery disease.

Baudhuin LM.

Clin Lab Sci. 2009 Fall;22(4):226-32. Review. No abstract available.

PMID:
19967918
33.
34.

Warfarin sensitivity genotyping: a review of the literature and summary of patient experience.

Moyer TP, O'Kane DJ, Baudhuin LM, Wiley CL, Fortini A, Fisher PK, Dupras DM, Chaudhry R, Thapa P, Zinsmeister AR, Heit JA.

Mayo Clin Proc. 2009 Dec;84(12):1079-94. doi: 10.4065/mcp.2009.0278. Review.

35.

Warfarin pharmacogenetics: ready for clinical utility?

Baudhuin LM.

Clin Lab Sci. 2009 Summer;22(3):151-5. No abstract available.

PMID:
19827409
36.

Pharmacogenetics in hemostasis: friend or foe?

Rumilla K, Chen D, Baudhuin LM.

Semin Thromb Hemost. 2009 Feb;35(1):42-9. doi: 10.1055/s-0029-1214147. Epub 2009 Mar 23. Review.

PMID:
19308892
37.

LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance.

Snozek CL, Lagerstedt SA, Khoo TK, Rubenfire M, Isley WL, Train LJ, Baudhuin LM.

Eur J Hum Genet. 2009 Jan;17(1):85-90. doi: 10.1038/ejhg.2008.138. Epub 2008 Jul 23.

38.

The value of MUTYH testing in patients with early onset microsatellite stable colorectal cancer referred for hereditary nonpolyposis colon cancer syndrome testing.

Riegert-Johnson DL, Johnson RA, Rabe KG, Wang L, Thomas B, Baudhuin LM, Thibodeau SN, Boardman LA.

Genet Test. 2007 Winter;11(4):361-5. doi: 10.1089/gte.2007.0014.

PMID:
18294051
39.

Translation of pharmacogenetics into clinically relevant testing modalities.

Baudhuin LM, Langman LJ, O'Kane DJ.

Clin Pharmacol Ther. 2007 Oct;82(4):373-6. Review.

PMID:
17851577
40.

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
41.

MYH Y165C and G382D mutations in hepatocellular carcinoma and cholangiocarcinoma patients.

Baudhuin LM, Roberts LR, Enders FT, Swanson RL, Mettler TA, Aderca I, Stadheim LM, Highsmith WE.

J Cancer Res Clin Oncol. 2006 Mar;132(3):159-62. Epub 2005 Nov 15.

PMID:
16292541
42.

Characterization of hMLH1 and hMSH2 gene dosage alterations in Lynch syndrome patients.

Baudhuin LM, Ferber MJ, Winters JL, Steenblock KJ, Swanson RL, French AJ, Butz ML, Thibodeau SN.

Gastroenterology. 2005 Sep;129(3):846-54.

PMID:
16143124
43.

Use of microsatellite instability and immunohistochemistry testing for the identification of individuals at risk for Lynch syndrome.

Baudhuin LM, Burgart LJ, Leontovich O, Thibodeau SN.

Fam Cancer. 2005;4(3):255-65. Review.

PMID:
16136387
44.

Analysis of hMLH1 and hMSH2 gene dosage alterations in hereditary nonpolyposis colorectal cancer patients by novel methods.

Baudhuin LM, Mai M, French AJ, Kruckeberg KE, Swanson RL, Winters JL, Courteau LK, Thibodeau SN.

J Mol Diagn. 2005 May;7(2):226-35.

45.

MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps.

Wang L, Baudhuin LM, Boardman LA, Steenblock KJ, Petersen GM, Halling KC, French AJ, Johnson RA, Burgart LJ, Rabe K, Lindor NM, Thibodeau SN.

Gastroenterology. 2004 Jul;127(1):9-16. Erratum in: Gastroenterology. 2004 Nov;127(5):1651.

PMID:
15236166
46.

Electrophoretic measurement of lipoprotein(a) cholesterol in plasma with and without ultracentrifugation: comparison with an immunoturbidimetric lipoprotein(a) method.

Baudhuin LM, Hartman SJ, O'Brien JF, Meissner I, Galen RS, Ward JN, Hogen SM, Branum EL, McConnell JP.

Clin Biochem. 2004 Jun;37(6):481-8.

PMID:
15183296
47.

S1P3-mediated Akt activation and cross-talk with platelet-derived growth factor receptor (PDGFR).

Baudhuin LM, Jiang Y, Zaslavsky A, Ishii I, Chun J, Xu Y.

FASEB J. 2004 Feb;18(2):341-3. Epub 2003 Dec 4.

PMID:
14657000
48.

Unfolding the pathophysiological role of bioactive lysophospholipids.

Xu Y, Xiao YJ, Zhu K, Baudhuin LM, Lu J, Hong G, Kim KS, Cristina KL, Song L, S Williams F, Elson P, Markman M, Belinson J.

Curr Drug Targets Immune Endocr Metabol Disord. 2003 Mar;3(1):23-32. Review.

PMID:
12570723
50.

Role of ether-linked lysophosphatidic acids in ovarian cancer cells.

Lu J, Xiao Yj YJ, Baudhuin LM, Hong G, Xu Y.

J Lipid Res. 2002 Mar;43(3):463-76.

Supplemental Content

Loading ...
Support Center