Publications

  1. Baudhuin LM, Biesecker LG, Burke W, Green ED, Green RC. Predictive and Precision Medicine with Genomic Data. Clin Chem. 2019 Dec 16 [Epub ahead of print]
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  2. Baudhuin LM, Kluge ML, Kotzer KE, Lagerstedt SA. Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVar. Eur J Hum Genet. 2019 Oct; 27 (10):1550-1560 Epub 2019 June 21
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  3. 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. International survey of patients undergoing percutaneous coronary intervention and their attitudes toward pharmacogenetic testing. Pharmacogenet Genomics. 2019 Jun; 29 (4):76-83
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  4. Park JY, Risher MT, Caulfield T, Baudhuin LM, Schwab AP. Privacy in Direct-to-Consumer Genetic Testing. Clin Chem 2019 May; 65 (5):612-617 Epub 2019 Feb 28
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  5. 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. Clopidogrel Pharmacogenetics. Circ Cardiovasc Interv. 2019 Apr; 12 (4):e007811
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  6. Meeusen JW, Donato LJ, Bryant SC, Baudhuin LM, Berger PB, Jaffe AS. Plasma Ceramides. Arterioscler Thromb Vasc Biol. 2018 Aug; 38 (8):1933-1939
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  7. V Willrich MA, Kaleta EJ, Bryant SC, Spears GM, Train LJ, Peterson SE, Lennon VA, Kopecky SL, Baudhuin LM. Genetic variation in statin intolerance and a possible protective role for UGT1A1. Pharmacogenomics. 2018 Jan; 19 (2):83-94 Epub 2017 Dec 06
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  8. Baudhuin LM, Leduc C, Train LJ, Avula R, Kluge ML, Kotzer KE, Lin PT, Ackerman MJ, Maleszewski JJ. 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. Circ Cardiovasc Genet. 2017 Dec; 10 (6)
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  9. Moyer AM, Skierka JM, Kotzer KE, Kluge ML, Black JL, Baudhuin LM. Clinical UGT1A1 Genetic Analysis in Pediatric Patients: Experience of a Reference Laboratory. Mol Diagn Ther. 2017 Jun; 21 (3):327-335
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  10. Safarova MS, Klee EW, Baudhuin LM, Winkler EM, Kluge ML, Bielinski SJ, Olson JE, Kullo IJ. Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals. Eur J Hum Genet. 2017 Apr; 25 (4):410-415 Epub 2017 Feb 01
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  11. Schutzman DL, Baudhuin LM, Gatien E, Ajayi S, Wong RJ. Effect of genetic variants of bilirubin metabolism on the degree of hyperbilirubinemia in African-American newborns. J Perinatol. 2017 Apr; 37 (4):432-435 Epub 2016 Dec 15
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  12. Baudhuin LM, Ferber MJ. Miniaturized Nanopore DNA Sequencing: Accelerating the Path to Precision Medicine. Clin Chem 2017 Mar; 63 (3):632-634 Epub 2017 Jan 11
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  13. Baudhuin LM. Direct-to-consumer genetic testing in the personalized medicine era Point of Care. 2017; 16 (3):120-3
  14. Baudhuin LM, Funke BH, Bean LH, Deignan JL, Hofherr S, Miller DT, Nagan N, Santani A, Saunders C. Classifying Germline Sequence Variants in the Era of Next-Generation Sequencing. Clin Chem. 2016 Jun; 62 (6):799-806 Epub 2016 Feb 09
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  15. 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. 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. J Mol Diagn. 2016 May; 18 (3):438-445 Epub 2016 Mar 03
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  16. Baudhuin LM, Lagerstedt SA, Klee EW, Fadra N, Oglesbee D, Ferber MJ. Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing. J Mol Diagn. 2015 Jul; 17 (4):456-61 Epub 2015 May 08
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  17. Baudhuin LM, Kotzer KE, Lagerstedt SA. Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants. J Hum Genet. 2015 May; 60 (5):241-52 Epub 2015 Feb 05
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  18. Baudhuin LM, Kotzer KE, Lagerstedt SA. Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events. Genet Med. 2015 Mar; 17 (3):177-87 Epub 2014 Aug 07
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  19. 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. Relationship of genetic variation in the serotonin transporter gene (SLC6A4) and congenital and acquired cardiovascular diseases. Genet Test Mol Biomarkers. 2015 Mar; 19: (3)115-23.
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  20. Moyer AM, Baudhuin LM. Genetic considerations in the treatment of familial hypercholesterolemia. Clinical Lipidology. 2015; 10(5):387-403.
  21. Donato LJ, Saenger AK, Train LJ, Kotzer KE, Lagerstedt SA, Hornseth JM, Basu A, Winters JL, Baudhuin LM. Genetic and biochemical analyses in dyslipidemic patients undergoing LDL apheresis. J Clin Apher. 2014 Oct; 29(5):256-65. Epub 2014 Jan 13.
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  22. Baudhuin LM. The FDA and 23andMe: violating the First Amendment or protecting the rights of consumers? Clin Chem. 2014 Jun; 60 (6):835-7 Epub 2014 May 01
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  23. 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. Preemptive genotyping for personalized medicine: design of the right drug, right dose, right time-using genomic data to individualize treatment protocol. Mayo Clin Proc. 2014 Jan; 89 (1):25-33
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  24. Willrich MA, Baudhuin LM. PCSK9 and the road less traveled: how an unconventional approach led to a major discovery. Clin Chem 2013 Aug; 59 (8):1283-4
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  25. 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. Effects of atorvastatin on CYP3A4 and CYP3A5 mRNA expression in mononuclear cells and CYP3A activity in hypercholeresterolemic patients. Clin Chim Acta. 2013 Jun 5; 421:157-63. Epub 2013 Mar 15.
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  26. Skierka JM, Kotzer KE, Lagerstedt SA, O'Kane DJ, Baudhuin LM. UGT1A1 genetic analysis as a diagnostic aid for individuals with unconjugated hyperbilirubinemia. J Pediatr. 2013 Jun; 162(6):1146-52, 1152.e1-2. Epub 2013 Jan 04.
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  27. Baudhuin LM. A new era of genetic testing and its impact on research and clinical care. Clin Chem. 2012 Jun; 58(6):1070-1.
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  28. Baudhuin LM, Donato LJ, Uphoff TS. How novel molecular diagnostic technologies and biomarkers are revolutionizing genetic testing and patient care. Expert Rev Mol Diagn. 2012 Jan; 12(1):25-37.
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  29. Pervaiz MA, Gau G, Jaffe AS, Saenger AK, Baudhuin L, Ellison J. A Non-classical Presentation of Tangier Disease with Three ABCA1 Mutations. JIMD Rep. 2012; 4:109-11 Epub 2011 Sept 28
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  30. Baudhuin LM. Determining the optimal approach for government-regulated genetic testing. Clin Chem. 2011 Jan; 57 (1):7-8 Epub 2010 Sept 27
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  31. Tester DJ, Benton AJ, Train L, Deal B, Baudhuin LM, Ackerman MJ. Prevalence and spectrum of large deletions or duplications in the major long QT syndrome-susceptibility genes and implications for long QT syndrome genetic testing. Am J Cardiol. 2010 Oct 15; 106 (8):1124-8
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  32. Baudhuin LM, Miller WL, Train L, Bryant S, Hartman KA, Phelps M, Larock M, Jaffe AS. Relation of ADRB1, CYP2D6, and UGT1A1 polymorphisms with dose of, and response to, carvedilol or metoprolol therapy in patients with chronic heart failure. Am J Cardiol. 2010 Aug 1; 106 (3):402-8
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  33. Moyer TP, O'Kane DJ, Baudhuin LM, Wiley CL, Fortini A, Fisher PK, Dupras DM, Chaudhry R, Thapa P, Zinsmeister AR, Heit JA. Warfarin sensitivity genotyping: a review of the literature and summary of patient experience. Mayo Clin Proc. 2009 Dec; 84 (12):1079-94
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  34. Baudhuin LM. Focus: cardiovascular risk assessment: genetic markers for coronary artery disease. Clin Lab Sci. 2009 Fall; 22(4):226-32.
  35. Baudhuin LM. Genetic markers for coronary artery disease. Clin Lab Sci. 2009 Fall; 22(4):226-32.
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  36. Kotzer MS, Baudhuin L. Novel human pathological mutations. Gene symbol: LDLR. Disease: hypercholesterolemia. Hum Genet. 2009 Aug; 126(2):352.
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  37. Baudhuin LM. Warfarin pharmacogenetics: ready for clinical utility? Clin Lab Sci. 2009 Summer; 22: (3)151-5.
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  38. Baudhuin LM. Genetics of coronary artery disease: focus on genome-wide association studies. Am J Transl Res. 2009 Mar 5; 1 (3):221-34 Epub 2009 Mar 05
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  39. Rumilla K, Chen D, Baudhuin LM. Pharmacogenetics in hemostasis: friend or foe? Semin Thromb Hemost. 2009 Feb; 35(1):42-9 Epub 2009 Mar 23.
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  40. Jones J, Chen LS, Baudhuin L, Peterson S, Harmsen WS, Zinsmeister AR, McConnell J, Sandborn WJ. Relationships between C-reactive protein concentration and genotype in healthy volunteers. Clin Chem Lab Med. 2009; 47(1):20-5.
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  41. Snozek CL, Lagerstedt SA, Khoo TK, Rubenfire M, Isley WL, Train LJ, Baudhuin LM. LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance. Eur J Hum Genet. 2009 Jan; 17 (1):85-90 Epub 2008 July 23
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  42. Jones J, Loftus EV Jr, Panaccione R, Chen LS, Peterson S, McConnell J, Baudhuin L, Hanson K, Feagan BG, Harmsen SW, Zinsmeister AR, Helou E, Sandborn WJ. Relationships between disease activity and serum and fecal biomarkers in patients with Crohn's disease. Clin Gastroenterol Hepatol. 2008 Nov; 6(11):1218-24. Epub 2008 Sep 17.
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  43. Riegert-Johnson DL, Johnson RA, Rabe KG, Wang L, Thomas B, Baudhuin LM, Thibodeau SN, Boardman LA. The value of MUTYH testing in patients with early onset microsatellite stable colorectal cancer referred for hereditary nonpolyposis colon cancer syndrome testing. Genet Test. 2007 Winter; 11(4):361-5.
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  44. Baudhuin LM, Langman LJ, O'Kane DJ. Translation of pharmacogenetics into clinically relevant testing modalities. Clin Pharmacol Ther. 2007 Oct; 82: (4)373-6.
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  45. Baudhuin LM, Highsmith WE, Skierka J, Holtegaard L, Moore BE, O'Kane DJ. Comparison of three methods for genotyping the UGT1A1 (TA)n repeat polymorphism. Clin Biochem. 2007 Jun; 40 (9-10):710-7 Epub 2007 Mar 23
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  46. Baudhuin LM, Roberts LR, Enders FT, Swanson RL, Mettler TA, Aderca I, Stadheim LM, Highsmith WE. MYH Y165C and G382D mutations in hepatocellular carcinoma and cholangiocarcinoma patients. J Cancer Res Clin Oncol. 2006 Mar; 132 (3):159-62 Epub 2005 Nov 15
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  47. Baudhuin LM, Ferber MJ, Winters JL, Steenblock KJ, Swanson RL, French AJ, Butz ML, Thibodeau SN. Characterization of hMLH1 and hMSH2 gene dosage alterations in Lynch syndrome patients. Gastroenterology. 2005 Sep; 129: (3)846-54.
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  48. Baudhuin LM, Mai M, French AJ, Kruckeberg KE, Swanson RL, Winters JL, Courteau LK, Thibodeau SN. Analysis of hMLH1 and hMSH2 gene dosage alterations in hereditary nonpolyposis colorectal cancer patients by novel methods. J Mol Diagn. 2005 May; 7 (2):226-35
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  49. Baudhuin LM, Burgart LJ, Leontovich O, Thibodeau SN. Use of microsatellite instability and immunohistochemistry testing for the identification of individuals at risk for Lynch syndrome. Fam Cancer. 2005; 4 (3):255-65
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  50. Wang L, Baudhuin LM, Boardman LA, Steenblock KJ, Petersen GM, Halling KC, French AJ, Johnson RA, Burgart LJ, Rabe K, Lindor NM, Thibodeau SN. MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. Gastroenterology. 2004 Jul; 127 (1):9-16
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  51. Baudhuin LM, Hartman SJ, O'Brien JF, Meissner I, Galen RS, Ward JN, Hogen SM, Branum EL, McConnell JP. Electrophoretic measurement of lipoprotein(a) cholesterol in plasma with and without ultracentrifugation: comparison with an immunoturbidimetric lipoprotein(a) method. Clin Biochem. 2004 Jun; 37(6):481-8.
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  52. Baudhuin LM, Jiang Y, Zaslavsky A, Ishii I, Chun J, Xu Y. S1P3-mediated Akt activation and cross-talk with platelet-derived growth factor receptor (PDGFR). FASEB J. 2004 Feb; 18(2):341-3.
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  53. 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. Unfolding the pathophysiological role of bioactive lysophospholipids. Current Drug Targets - Immune Endocrine & Metabolic Disorders. 2003 Mar; 3(1):23-32.
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  54. Baudhuin LM, Cristina KL, Lu J, Xu Y. Akt activation induced by lysophosphatidic acid and sphingosine-1-phosphate requires both mitogen-activated protein kinase kinase and p38 mitogen-activated protein kinase and is cell-line specific. Mol Pharmacol. 2002 Sep; 62(3):660-71.
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  55. Lu J, Xiao Yj YJ, Baudhuin LM, Hong G, Xu Y. Role of ether-linked lysophosphatidic acids in ovarian cancer cells. J Lipid Res. 2002 Mar; 43(3):463-76.
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  56. Zhu K, Baudhuin LM, Hong G, Williams FS, Cristina KL, Kabarowski JH, Witte ON, Xu Y. Sphingosylphosphorylcholine and lysophosphatidylcholine are ligands for the G protein-coupled receptor GPR4.[retraction in J Biol Chem. 2005 Dec 30;280(52):43280; PMID: 16498716]. J Biol Chem. 2001 Nov 2; 276(44):41325-35.
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  57. Schwartz BM, Hong G, Morrison BH, Wu W, Baudhuin LM, Xiao YJ, Mok SC, Xu Y. Lysophospholipids increase interleukin-8 expression in ovarian cancer cells. Gynecol Oncol. 2001 May; 81(2):291-300.
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  58. Xu Y, Xiao YJ, Baudhuin LM, Schwartz BM. The role and clinical applications of bioactive lysolipids in ovarian cancer. J Soc Gynecol Investig. 2001 Jan-Feb; 8(1):1-13.
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  59. Xu Y, Zhu K, Hong G, Wu W, Baudhuin LM, Xiao Y, Damron DS. Sphingosylphosphorylcholine is a ligand for ovarian cancer G-protein-coupled receptor 1.[erratum appears in Nat Cell Biol 2000 Aug;2(8):E146][retraction in Nat Cell Biol. 2006 Mar;8(3):299; PMID: 16508674]. Nat Cell Biol. 2000 May; 2(5):261-7.
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  60. Hong G, Baudhuin LM, Xu Y. Sphingosine-1-phosphate modulates growth and adhesion of ovarian cancer cells. FEBS Lett. 1999 Nov 5; 460(3):513-8.
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  61. Xie L, Isenberger KM, Held G, Dahl LM. Highly stereoselective kinetic enolate formation: steric vs. electronic effects. J Org Chem. 1997 Oct 17; 62(21):7516-9.