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Stephanie Santorico



  • Higher Ed: Mathematics, Higher Ed: Science 


Stephanie (Monks) Santorico, Ph.D., is Associate Professor in the Department of Mathematical and Statistical Sciences at the University of Colorado Denver. Dr. Santorico is a statistical geneticist whose research interests encompass development of statistical methods and study designs for gene discovery through the use of pedigree and/or population-based data. Dr. Santorico has developed methods for use of linkage disequilibrium between alleles at two loci to localize susceptibility genes for both disease and quantitative traits in family-based studies (Monks, Kaplan, Weir 1998; Monks et al 1999; Monks, Kaplan 2000; Martin et al 2000), and she has collaborated on large family studies of Cardiovascular Disease and Diabetes (Austin et al 2003; Edwards et al 2008). Her current research is aimed at dissecting interacting disease susceptibility pathways by applying statistical genetics principles to incorporating gene expression data (Schadt, Monks et al 2003; Schadt, Monks, Friend 2003; Monks et al 2004, Schadt et al 2005). Her ongoing research investigates refinement of multiple-testing correction, combining genetic data across multiple ethnic groups, and modeling epistasis and pleiotropy for multivariate traits in an association testing framework.  


Statistical Genetics, Genetic Epidemiology, Genetics of Gene Expression, Integrating Genomics Data to
Understand Complex Human Traits including Methods involving Genetic Linkage and Linkage Disequilibrium 


Edwards KL, Hutter CM, Wan JY, Kim H, Monks SA (2008) Genome-wide linkage scan for the metabolic syndrome: the GENNID study. Obesity (Silver Spring) 16(7):1596-601

Bis JC, Heckbert SR, Smith NL, Reiner AP, Rice K, Lumley T, Hindorff LA, Marciante KD, Enquobahrie DA, Monks SA, Psaty BM (2008) Variation in inflammation-related genes and risk of incident nonfatal myocardial infarction or ischemic stroke. Atherosclerosis 198(1):166-73

Marciante KD, Bis JC, Rieder MJ, Reiner AP, Lumley T, Monks SA, Kooperberg C, Carlson C, Nickerson DA, Heckbert SR, Psaty BM (2007) Renin-angiotensin system haplotypes and the risk of myocardial infarction and stroke in pharmacologically treated hypertensive patients. Am J Epidemiol. 166(1):19-27

French B, Lumley T, Monks SA, Rice KM, Hindorff LA, Reiner AP, Psaty BM (2006) Simple estimates of haplotype relative risks in case-control data. Genet Epidemiol 30(6):485-494

Monks SA (2006) Statistical issues in ecogenetic studies. In Gene-environment interactions: fundamentals of ecogenetics, edited by LG Costa and L Eaton. Wiley

Hing AV, Leblond C, Sze RW, Starr JR, Monks S, Parisi MA (2006) A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance. Am J Med Genet A. 140(8):804-12

Simon JS, Karnoub MC, Devlin DJ, Arreaza MG, Qiu P, Monks SA, Severino ME, Deutsch P, Palmisano J, Sachs AB, Bayne ML, Plump AS, Schadt EE (2005) Sequence variation in NPC1L1 and association with improved LDL-Cholesterol lowering in response to ezetimibe treatment. Genomics 86(6):648-56

Schadt EE, Lamb J, Yang X, Zhu J, Edwards S, Guhathakurta D, Sieberts SK, Monks S, Reitman M, Zhang C, Lum PY, Leonardson A, Thieringer R, Metzger JM, Yang L, Castle J, Zhu H, Kash SF, Drake TA, Sachs A, Lusis AJ (2005) An integrative genomics approach to infer causal associations between gene expression and disease. Nat Genet 37(7):710-7

Monks SA, Leonardson A, Zhu H, Cundiff P, Pietrusiak P, Edwards S, Phillips J, Sachs A, Schadt EE (2004) Genetic Inheritance of Gene Expression in Human Cell Lines. Am J Hum Genet 75(6):1094-105

Schadt EE, Monks SA, Friend SH: A new paradigm for drug discovery: integrating clinical, genetic, genomic and molecular phenotype data to identify drug targets. Biochem Soc Trans. 31(2):437-43, 2003

Schadt EE*, Monks SA * et al: The genetics of gene expression: a survey across man, mouse and maize. Nature. 422:297-302, 2003 * equal contributors

Monks SA, Kaplan NL: Removing the size restrictions from family-based tests of association for a quantitative trait locus. Am J Hum Genet, 66: 576-592, 2000.