Marylyn DeRiggi Ritchie, Ph.D.
Associate Professor of Molecular Physiology and Biophysics
Vanderbilt Center for Human Genetics Research
519 Light Hall
Nashville , TN 37232-0700
We study various neurological diseases such as Alzheimer's disease, Parkinson's disease, and depression. We not only study the genetic leading to disease, but also pharmacogenomics of neurological disorders. That is, is there a genetic basis behind the variability in patient response to drug treatments.
Graduate students in this laboratory will work on methodological development to facilitate the complex genetic analysis of studies of human disease, such as major depressive illness. Although the methods are not molecular in nature, the data are molecular and the inferences drawn from these studies are about the underlying cellular and molecular biology of the human disease process.
- Turner, SD, Dudek, SM, Ritchie, MD Incorporating Domain Knowledge into Evolutionary Computing for Discovering Gene-Gene Interaction. Lect Notes Comput Sci, 6238(2011), 394-403, 2011.
- Turner, S, Armstrong, LL, Bradford, Y, Carlson, CS, Crawford, DC, Crenshaw, AT, de Andrade, M, Doheny, KF, Haines, JL, Hayes, G, Jarvik, G, Jiang, L, Kullo, IJ, Li, R, Ling, H, Manolio, TA, Matsumoto, M, McCarty, CA, McDavid, AN, Mirel, DB, Paschall, JE, Pugh, EW, Rasmussen, LV, Wilke, RA, Zuvich, RL, Ritchie, MD Quality control procedures for genome-wide association studies. Curr Protoc Hum Genet, Chapter 1Unit1.19, 2011.
- Grady, BJ, Torstenson, ES, McLaren, PJ, DE Bakker, PI, Haas, DW, Robbins, GK, Gulick, RM, Haubrich, R, Ribaudo, H, Ritchie, MD Use of biological knowledge to inform the analysis of gene-gene interactions involved in modulating virologic failure with efavirenz-containing treatment regimens in art-naÃ¯ve actg clinical trials participants. Pac Symp Biocomput, 253-64, 2011.
- Ritchie, MD Using biological knowledge to uncover the mystery in the search for epistasis in genome-wide association studies. Ann Hum Genet, 75(1), 172-82, 2011.
- Pendergrass, S, Dudek, SM, Roden, DM, Crawford, DC, Ritchie, MD Visual integration of results from a large DNA biobank (biovu) using synthesis-view. Pac Symp Biocomput, 265-75, 2011.
- Edwards, TL, Turner, SD, Torstenson, ES, Dudek, SM, Martin, ER, Ritchie, MD A general framework for formal tests of interaction after exhaustive search methods with applications to MDR and MDR-PDT. PLoS One, 5(2), e9363, 2010.
- Turner, SD, Dudek, SM, Ritchie, MD ATHENA: A knowledge-based hybrid backpropagation-grammatical evolution neural network algorithm for discovering epistasis among quantitative trait Loci. BioData Min, 3(1), 5, 2010.
- Dumitrescu, L, Ritchie, MD, Brown-Gentry, K, Pulley, JM, Basford, M, Denny, JC, Oksenberg, JR, Roden, DM, Haines, JL, Crawford, DC Assessing the accuracy of observer-reported ancestry in a biorepository linked to electronic medical records. Genet Med, 12(10), 648-50, 2010.
- Ritchie, MD, Bush, WS Genome simulation approaches for synthesizing in silico datasets for human genomics. Adv Genet, 721-24, 2010.
- Turner, SD, Dudek, SM, Ritchie, MD Grammatical Evolution of Neural Networks for Discovering Epistasis among Quantitative Trait Loci. Lect Notes Comput Sci, 602386-97, 2010.
- Denny, JC, Ritchie, MD, Crawford, DC, Schildcrout, JS, Ramirez, AH, Pulley, JM, Basford, MA, Masys, DR, Haines, JL, Roden, DM Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science. Circulation, 122(20), 2016-21, 2010.
- Holzinger, ER, Buchanan, CC, Dudek, SM, Torstenson, EC, Turner, SD, Ritchie, MD Initialization Parameter Sweep in ATHENA: Optimizing Neural Networks for Detecting Gene-Gene Interactions in the Presence of Small Main Effects. Genet Evol Comput Conf, 12203-210, 2010.
- Ritchie, MD, Denny, JC, Crawford, DC, Ramirez, AH, Weiner, JB, Pulley, JM, Basford, MA, Brown-Gentry, K, Balser, JR, Masys, DR, Haines, JL, Roden, DM Robust replication of genotype-phenotype associations across multiple diseases in an electronic medical record. Am J Hum Genet, 86(4), 560-72, 2010.
- Pendergrass, SA, Dudek, SM, Crawford, DC, Ritchie, MD Synthesis-View: visualization and interpretation of SNP association results for multi-cohort, multi-phenotype data and meta-analysis. BioData Min, 310, 2010.
- Bush, WS, Dudek, SM, Ritchie, MD Visualizing SNP statistics in the context of linkage disequilibrium using LD-Plus. Bioinformatics, 26(4), 578-9, 2010.
- Bush, WS, Chen, G, Torstenson, ES, Ritchie, MD LD-spline: mapping SNPs on genotyping platforms to genomic regions using patterns of linkage disequilibrium. BioData Min, 2(1), 7, 2009.
- Turner, SD, Crawford, DC, Ritchie, MD Methods for optimizing statistical analyses in pharmacogenomics research. Expert Rev Clin Pharmacol, 2(5), 559-570, 2009.
- Bush, WS, Edwards, TL, Dudek, SM, McKinney, BA, Ritchie, MD Alternative contingency table measures improve the power and detection of multifactor dimensionality reduction. BMC Bioinformatics, 9238, 2008.
- Schwarz, UI, Ritchie, MD, Bradford, Y, Li, C, Dudek, SM, Frye-Anderson, A, Kim, RB, Roden, DM, Stein, CM Genetic determinants of response to warfarin during initial anticoagulation. N Engl J Med, 358(10), 999-1008, 2008.
- Darbar, D, Kimbrough, J, Jawaid, A, McCray, R, Ritchie, MD, Roden, DM Persistent atrial fibrillation is associated with reduced risk of torsades de pointes in patients with drug-induced long QT syndrome. J Am Coll Cardiol, 51(8), 836-42, 2008.
- Pretorius, MM, Gainer, JV, Van Guilder, GP, Coelho, EB, Luther, JM, Fong, P, Rosenbaum, DD, Malave, HA, Yu, C, Ritchie, MD, Vaughan, DE, Brown, NJ The bradykinin type 2 receptor BE1 polymorphism and ethnicity influence systolic blood pressure and vascular resistance. Clin Pharmacol Ther, 83(1), 122-9, 2008.
- Canter, JA, Haas, DW, Kallianpur, AR, Ritchie, MD, Robbins, GK, Shafer, RW, Clifford, DB, Murdock, DG, Hulgan, T The mitochondrial pharmacogenomics of haplogroup T: MTND2*LHON4917G and antiretroviral therapy-associated peripheral neuropathy. Pharmacogenomics J, 8(1), 71-7, 2008.
- Velez, DR, White, BC, Motsinger, AA, Bush, WS, Ritchie, MD, Williams, SM, Moore, JH A balanced accuracy function for epistasis modeling in imbalanced datasets using multifactor dimensionality reduction. Genet Epidemiol, 2007.
- Motsinger, AA, Brassat, D, Caillier, SJ, Erlich, HA, Walker, K, Steiner, LL, Barcellos, LF, Pericak-Vance, MA, Schmidt, S, Gregory, S, Hauser, SL, Haines, JL, Oksenberg, JR, Ritchie, MD Complex gene-gene interactions in multiple sclerosis: a multifactorial approach reveals associations with inflammatory genes. Neurogenetics, 8(1), 11-20, 2007.
- Ritchie, MD, Bartlett, J, Bush, WS, Edwards, TL, Motsinger, AA, Torstenson, ES Exploring epistasis in candidate genes for rheumatoid arthritis. BMC Proc, 1 Suppl 1S70, 2007.
- Canter, JA, Summar, ML, Smith, HB, Rice, GD, Hall, LD, Ritchie, MD, Motsinger, AA, Christian, KG, Drinkwater, DC, Scholl, FG, Dyer, KL, Kavanaugh-McHugh, AL, Barr, FE Genetic variation in the mitochondrial enzyme carbamyl-phosphate synthetase I predisposes children to increased pulmonary artery pressure following surgical repair of congenital heart defects: A validated genetic association study. Mitochondrion, 7(3), 204-10, 2007.
- Motsinger, AA, Haas, DW, Hulgan, T, Ritchie, MD Human genomic association studies: a primer for the infectious diseases specialist. J Infect Dis, 195(12), 1737-44, 2007.
- Crawford, DC, Ritchie, MD, Rieder, MJ Identifying the genotype behind the phenotype: a role model found in VKORC1 and its association with warfarin dosing. Pharmacogenomics, 8(5), 487-96, 2007.
- Darbar, D, Motsinger, AA, Ritchie, MD, Gainer, JV, Roden, DM Polymorphism modulates symptomatic response to antiarrhythmic drug therapy in patients with lone atrial fibrillation. Heart Rhythm, 4(6), 743-9, 2007.
- Motsinger, AA, Ritchie, MD, Dobrin, SE Clinical applications of whole-genome association studies: future applications at the bedside. Expert Rev Mol Diagn, 6(4), 551-65, 2006.
- Dudek, SM, Motsinger, AA, Velez, DR, Williams, SM, Ritchie, MD Data simulation software for whole-genome association and other studies in human genetics. Pac Symp Biocomput, 499-510, 2006.
- Takahashi, H, Wilkinson, GR, Nutescu, EA, Morita, T, Ritchie, MD, Scordo, MG, Pengo, V, Barban, M, Padrini, R, Ieiri, I, Otsubo, K, Kashima, T, Kimura, S, Kijima, S, Echizen, H Different contributions of polymorphisms in VKORC1 and CYP2C9 to intra- and inter-population differences in maintenance dose of warfarin in Japanese, Caucasians and African-Americans. Pharmacogenet Genomics, 16(2), 101-110, 2006.
- Ritchie, MD, Haas, DW, Motsinger, AA, Donahue, JP, Erdem, H, Raffanti, S, Rebeiro, P, George, AL, Kim, RB, Haines, JL, Sterling, TR Drug transporter and metabolizing enzyme gene variants and nonnucleoside reverse-transcriptase inhibitor hepatotoxicity. Clin Infect Dis, 43(6), 779-82, 2006.
- Crooke, PS, Ritchie, MD, Hachey, DL, Dawling, S, Roodi, N, Parl, FF Estrogens, enzyme variants, and breast cancer: a risk model. Cancer Epidemiol Biomarkers Prev, 15(9), 1620-9, 2006.
- Motsinger, AA, Lee, SL, Mellick, G, Ritchie, MD GPNN: power studies and applications of a neural network method for detecting gene-gene interactions in studies of human disease. BMC Bioinformatics, 739, 2006.
- Kallianpur, AR, Hulgan, T, Canter, JA, Ritchie, MD, Haines, JL, Robbins, GK, Shafer, RW, Clifford, DB, Haas, DW Hemochromatosis (HFE) gene mutations and peripheral neuropathy during antiretroviral therapy. AIDS, 20(11), 1503-13, 2006.
- Haas, DW, Geraghty, DE, Andersen, J, Mar, J, Motsinger, AA, D''Aquila, RT, Unutmaz, D, Benson, CA, Ritchie, MD, Landay, A, , Immunogenetics of CD4 lymphocyte count recovery during antiretroviral therapy: An AIDS Clinical Trials Group study. J Infect Dis, 194(8), 1098-107, 2006.
- McKinney, BA, Reif, DM, Ritchie, MD, Moore, JH Machine learning for detecting gene-gene interactions: a review. Appl Bioinformatics, 5(2), 77-88, 2006.
- Motsinger, AA, Ritchie, MD Multifactor dimensionality reduction: An analysis strategy for modelling and detecting gene-gene interactions in human genetics and pharmacogenomics studies. Hum Genomics, 2(5), 318-28, 2006.
- Motsinger, AA, Ritchie, MD, Shafer, RW, Robbins, GK, Morse, GD, Labbe, L, Wilkinson, GR, Clifford, DB, D''Aquila, RT, Johnson, VA, Pollard, RB, Merigan, TC, Hirsch, MS, Donahue, JP, Kim, RB, Haas, DW Multilocus genetic interactions and response to efavirenz-containing regimens: an adult AIDS clinical trials group study. Pharmacogenet Genomics, 16(11), 837-45, 2006.
- Bush, WS, Dudek, SM, Ritchie, MD Parallel multifactor dimensionality reduction: a tool for the large-scale analysis of gene-gene interactions. Bioinformatics, 22(17), 2173-4, 2006.
- Motsinger, AA, Donahue, BS, Brown, NJ, Roden, DM, Ritchie, MD Risk factor interactions and genetic effects associated with post-operative atrial fibrillation. Pac Symp Biocomput, 584-95, 2006.
- Motsinger, AA, Ritchie, MD The effect of reduction in cross-validation intervals on the performance of multifactor dimensionality reduction. Genet Epidemiol, 30(6), 546-55, 2006.
- Ritchie, MD Bioinformatics approaches for detecting gene-gene and gene-environment interactions in studies of human disease. Neurosurg Focus, 19(4), E2, 2005.
- Bush, W.S., Motsinger A.A., Dudek, S.M., Ritchie, M.D Can neural network constraints in GP provide power to detect genes associated with human disease?. Lecture Notes in Computer Science, 344944-53, 2005.
- Ritchie, Marylyn D, Carillo, Michelle W, Wilke, Russell A Computational approaches for pharmacogenomics. Pac Symp Biocomput, 245-7, 2005.
- McKinney, B., Ritchie, M.D., Moore, J.H. "Machine learning for detecting gene-gene interactions." Applied Bioinformatics, (in press), 2005.
- Hulgan, T, Haas, DW, Haines, JL, Ritchie, MD, Robbins, GK, Shafer, RW, Clifford, DB, Kallianpur, AR, Summar, M, Canter, JA Mitochondrial haplogroups and peripheral neuropathy during antiretroviral therapy: an adult AIDS clinical trials group study. AIDS, 19(13), 1341-9, 2005.
- Hulgan, T., Haas, D.W., Haines, J.L., Ritchie, M.D., Robbins, G.K., Shafer, R.W., Clifford, D.B., Kallianpur, A., Summar, M., Canter, J.A "Mitochondrial haplogroups and peripheral neuropathy during antiretroviral therapy: an Adult AIDS Clinical Trials Group Study." AIDS, (in press), 2005.
- Ritchie, MD, Motsinger, AA Multifactor dimensionality reduction for detecting gene-gene and gene-environment interactions in pharmacogenomics studies. Pharmacogenomics, 6(8), 823-34, 2005.
- Wilke RA, Carrillo MW, Ritchie MD Pacific symposium on biocomputing - computational approaches for pharmacogenomics. Pharmacogenomics, 2(6), 111-3, 2005.
- Soares ML, Coelho T, Sousa A, Batalov S, Conceicao I, Sales-Luis ML, Ritchie MD, Williams SM, Nievergelt CM, Schork NJ, Saraiva MJ, Buxbaum JN Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene disease. Hum Mol Genet., 14(4)(Feb 15), 543-53, 2005.
- Ritchie, MD Trends in genomic variation: a view of some of the latest technologies. Drug Discov Today, 10(21), 1417-8, 2005.
- Shin NY, Dise RS, Schneider-Mergener J, Ritchie MD, Kilkenny DM, Hanks SK. Subsets of the major tyrosine phosphorylation sites in Crk-associated substrate (CAS) are sufficient to promote cell migration.. J Biol Chem., 279(37), 38331-7., 2004 .
- Coffey, C.S., Hebert, P.R., Ritchie, M.D., Krumholz, H.M., Morgan, T.M., Gaziano, J.M., Ridker, P.M., and Moore, J.H An application of conditional logistic regression and multifactor dimensionality reduction for detecting gene-gene interactions on risk of myocardial infarction: The importance of model validation.. BMC Bioinformatics, (5), 49, 2004.
- Ritchie, M.D., Coffey, C.S., and Moore J.H. Genetic Programming Neural Networks: A Bioinformatics Tool for Human Genetics "Genetic Programming Neural Networks: A Bioinformatics Tool for Human Genetics." Lecture Notes in Computer Science, (3102), 438-448, 2004.
- Cho,Y.M., Ritchie, M.D., Moore, J.H., Moon, M.K., Lee, Y.Y, Yoon, K.H., Sung, Y.A., Lang, H.C., Park, J.Y., Lee, K.U., Shin, H.D., Kim, S.Y., Lee, H.K., Park, K.S. "Multifactor Dimensionality Reduction Reveals a Two-Locus Interaction Associated with Type 2 Diabetes Mellitus.." Diabetologia, (47), 549-554, 2004.
- Cho, Y. M., Ritchie, M. D., Moore, J. H., Park, J. Y., Lee, K.-U., Shin, H. D., Lee, H. K., Park, K. S. Multifactor-dimensionality reduction shows a two-locus interaction associated with Type 2 diabetes mellitus. Diabetologia, 2004.
- Williams, Scott M, Ritchie, Marylyn D, Phillips, John A, Dawson, Elliot, Prince, Melissa, Dzhura, Elvira, Willis, Alecia, Semenya, Amma, Summar, Marshall, White, Bill C, Addy, Jonathan H, Kpodonu, John, Wong, Lee-Jun, Felder, Robin A, Jose, Pedro A, Moore, Jason H Multilocus analysis of hypertension: a hierarchical approach. Hum Hered, 57(1), 28-38, 2004.
- Vanhoose, Amanda M, Ritchie, Marylyn D, Winder, Danny G Regulation of cAMP levels in area CA1 of hippocampus by Gi/o-coupled receptors is stimulus dependent in mice. Neurosci Lett, 370(1), 80-3, 2004.
- Tsai CT, Lai LP, Lin JL, Chiang FT, Hwang JJ, Ritchie MD, Moore JH, Hsu KL, Tseng CD, Liau CS, Tseng YZ. Renin-angiotensin system gene polymorphisms and atrial fibrillation.. Circulation, 109(13), 1640-6, 2004.
- Moore, J.H., Hahn, L.W., Ritchie, M.D., Thornton, T.A., White, B. "Routine Discovery of High-Order Epistasis Models for Computational Studies in Human Genetics.." Applied Soft Computing, (4), 79-86, 2004.
- Moore, Jason H, Ritchie, Marylyn D STUDENTJAMA. The challenges of whole-genome approaches to common diseases. JAMA, 291(13), 1642-3, 2004.
- Shin, Nah-Young, Dise, Rebecca S, Schneider-Mergener, Jens, Ritchie, Marylyn D, Kilkenny, Dawn M, Hanks, Steven K Subsets of the major tyrosine phosphorylation sites in Crk-associated substrate (CAS) are sufficient to promote cell migration. J Biol Chem, 279(37), 38331-7, 2004.
- Moore JH, Ritchie MD. The challenges of whole-genome approaches to common diseases.. JAMA, 291(13), 1642-3, 2004.
- Moore, JH, Thornton, TA, Ritchie, MD Basic statistics. Curr Protoc Hum Genet, Appendix 3Appendix 3M, 2003.
- Hahn, Lance W, Ritchie, Marylyn D, Moore, Jason H Multifactor dimensionality reduction software for detecting gene-gene and gene-environment interactions. Bioinformatics, 19(3), 376-82, 2003.
- Ritchie, Marylyn D, White, Bill C, Parker, Joel S, Hahn, Lance W, Moore, Jason H Optimization of neural network architecture using genetic programming improves detection and modeling of gene-gene interactions in studies of human diseases. BMC Bioinformatics, 4(1), 28, 2003.
- Ritchie, Marylyn D, Hahn, Lance W, Moore, Jason H Power of multifactor dimensionality reduction for detecting gene-gene interactions in the presence of genotyping error, missing data, phenocopy, and genetic heterogeneity. Genet Epidemiol, 24(2), 150-7, 2003.
- Moore J.H., Hahn L.W., Ritchie M.D., Thornton T.A., White B.C. Application of genetic algorithms to the discovery of complex genetic models for simulation studies in human genetics. In: Langdon WB, Cantu-Paz E, Mathias K, Roy R, Davis D, Poli R, Balakrishnan K, Honavar V, Rudolph G, Wegener J, Bull L, Potter MA, Schultz AC, Miller JF, Burke E, and Jonoska N, eds.. Genetic and Evolutionary Computation Conference, Morgan Kaufmann Publishers, San Francisco1150-55, 2002.
- Donaldson, John C, Dise, Rebecca S, Ritchie, Marylyn D, Hanks, Steven K Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity. J Biol Chem, 277(32), 29028-35, 2002.
- Ritchie, M D, Hahn, L W, Roodi, N, Bailey, L R, Dupont, W D, Parl, F F, Moore, J H Multifactor-dimensionality reduction reveals high-order interactions among estrogen-metabolism genes in sporadic breast cancer. Am J Hum Genet, 69(1), 138-47, 2001.