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Items: 1 to 20 of 48

1.

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 Feb 17. doi: 10.1007/s40291-017-0265-0. [Epub ahead of print]

PMID:
28213806
2.

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.

PMID:
28145427
3.

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.

PMID:
28077442
4.

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
5.

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):438-45. doi: 10.1016/j.jmoldx.2016.01.003. Epub 2016 Mar 3.

PMID:
26947514
6.

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.

PMID:
26861553
7.

"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.

8.

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):1845-6. doi: 10.1016/j.jacc.2015.07.074. No abstract available.

9.

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
10.

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
11.

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
12.

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
13.

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.

14.

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
15.

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.

16.

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.

17.

Quality guidelines for next-generation sequencing.

Baudhuin LM.

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

18.

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.

19.

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
20.

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.

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