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    • Curriculum Vitae Nancy J. Cox Office Address: The University of Chicago Department of Medicine Section of Genetic Medicine 5841 South Maryland Avenue M265 ~ MC 6091 Chicago, IL 60637 Phone: (773) 834-1001 Fax: (773) 834-0505 E-mail: ncox@bsd.uchicago.edu Marital Status Married, 2 children Education: 1978 B.Sc. Biology, The University of Notre Dame 1982 Ph.D. Human Genetics, Yale University Professional Positions Held: 1982-1985 Postdoctoral Fellow in Genetic Epidemiology Department of Psychiatry, Washington University School of Medicine, St. Louis, MO 1985-1987 Research Associate, Department of Human Genetics, The University of Pennsylvania School of Medicine, Philadelphia, PA 1987-1990 Research Associate, Howard Hughes Medical Institute, The University of Chicago 1988-1990 Research Associate (Assistant Professor), Department of Medicine, The University of Chicago 1990-1996 Chief Research Technician, Department of Medicine, The University of Chicago 1996-1999 Research Associate (Assistant Professor), Department of Medicine, The University of Chicago 1999.2004 Associate Professor, Departments of Human Genetics and Medicine, The University of Chicago 2004-Present Professor, Departments of Human Genetics and Medicine, The University of Chicago 2005-Present Professor and Chief, Section of Genetic Medicine, Dept. of Medicine, The University of Chicago Honors and Awards: Notre Dame Scholar, The University of Notre Dame, 1974-1978 Central Illinois Public Service Company Scholarship Award, 1974-1978 Notre Dame Scholarship, The University of Notre Dame, 1977-1978 National Research Service Award, Yale University, 1978-1981 Professional Activities: National Editorial Board - Diabetes 1993-1996 Member of Congressionally Mandated Diabetes Working Group 1998-1999 Member of Mammalian Genetics Study Section 1999-2003 Genetics Advisory Committee, NIDDK Phoenix, 1999-present Scientific Advisory Board, Joslin Diabetes Center, 2000-2003 External Review Committee, Department of Human Genetics, The University of Utah, 2001 American Society of Human Genetics National Program Committee 2002-2004 American Diabetes Association National Program Committee 2004-present 1 Curriculum Vitae (cont.) Nancy J. Cox
    • Chair, Data Safety Monitoring Board, NHLBI Gene X Environment Studies, 2003-2006 Board of Scientific Counselors for NHGRI 2003-2008 Editor-in-Chief, Genetic Epidemiology 2006-2011 Editorial Board, American Journal of Human Genetics 2006-2009 University Service: The University of Chicago Admissions Committee Molecular Biosciences Cluster 1999-2003, Chair 2003 Committee on Research Resources 1999-2003 Aims Scientific Committee 2003 Steering Committee for Committee on Genetics 2001- present Director of Graduate Studies and Curriculum Committee, Department of Human Genetics, 2002-2005 Committee on Academic Promotions 2004-2006 Membership in Professional and Scientific Societies: American Society of Human Genetics AAAS International Society of Genetic Epidemiology American Diabetes Association Grant Support 09/15/06 – 09/14/09 NIH/NIDDK $340,234 15% effort “Genetic Studies of Diabetic Complications”, (P.I. Nancy J. Cox) 06/15/06-05/31/09 NIH/NHLBI $188,419, 5% effort, “Genome-wide Association Mapping of Metabolic, Lung, and Cardiovascular Phenotypes”, (P.I. Nancy J. Cox) 05/15/06-04/30/08, NIH/NIDDK, $133,137, 10% effort, “Copy-number Polymorphism Análysis of the Type 2 Diabetes Gene Calpain 10”, (P.I. Nancy J. Cox) 07/01/00 – 06/30/08, NIH/NIDCD $100,000, 10% effort, “Stuttering: A Linkage Analysis”, (P.I. Nancy J. Cox) 01/01/07 – 12/31/09 NIH/NIDCD $150,000, 10% effort, “Identification of Sex-Specific Genes for Stuttering”, (P.I. Nancy J. Cox) Teaching Human Genetics GEN 470, Course Director/6 lectures per year, 1998-2001 Human Variations 469, 6 lectures per year, 2001 Introduction to Statistical Genetics 471, 17 lectures per year, 2002-present Postdoctoral Fellow Trainees Past Susan Colilla, Ph.D., 1998-2002, currently in Epidemiology and Public Health, The University of Pennsylvania Anya Tsalenko, Ph.D., 1997-2001, currently with Agilent Technologies Anna Pluzhnikov, Ph.D., 1999-2001, currently Laboratory Manager, Department of Human Genetics, The University of Chicago Mark Abney, Ph.D., 1997-2001, currently Research Associate (Assistant Professor), Department of Human Genetics, The University of Chicago Marcos Antezana, Ph.D., 2003–2004, currently Research Associate, Department of Ecology & Evolution, The University of Chicago Yu-Sheng Chen, Ph.D., 2003-2005 Maggie Ng, Ph.D., 2003-2006, currently Assistant Professor, Chinese University of Hong Kong M. Geoffrey Hayes, Ph.D., 2002-2007, currently Assistant Professor, Northwestern University Current 2 Curriculum Vitae (cont.) Nancy J. Cox
    • Anna Tikhomirov, Ph.D. Graduate/Undergraduate Student Trainees Past Nicoline Ambrose, PhD, 1996, currently Associate Professor, Department of Speech and Hearing Sciences, The University of Illinois at Champaign-Urbana Benjamin Voight, Ph.D., 2006, currently post-doctoral fellow, the Broad Institute, Boston, MA Jaqueline K. Wittke-Thompson, 2006 Current Jennifer (Piper) Below Peer Reviewed Articles: 1.Cox, N.J. & Kidd, K.K. (1983) Can recovery from stuttering be considered a genetically milder subtype of stuttering? Behav Genet 13:129-139. 2.Dorus, E., Cox, N.J., Gibbon, R.D., Shaughnessy, R., Pandey, G.N. & Cloninger, C.R. (1983) Lithium ion transport and affective disorders within families of bipolar patients: Identification of a major gene locus. Arch Gen Psychiat 40:545-552. 3.Cox, N.J., Seider, R.A. & Kidd, K.K. (1984) Some environmental factors and hypotheses for stuttering in families with several stutterers. J Speech Hear Res 27:543-548. 4.Cox, N.J. (1984) Genetic Analysis Workshop II: Results of segregation analyses using POINTER and linkage analyses using LIPED. Genet Epidem 1:167-170. 5.Cox, N.J., Kramer, P.L. & Kidd, K.K. (1984) Segregation analyses of stuttering. Genet Epidem 1:245-253. 6.Goldin, L.R., Cox, N.J., Pauls, D.L., Gershon, E.L. & Kidd, K.K. (1984) The detection of major loci by segregation and linkage analysis: A simulation study. Genet Epidem 1:285-296. 7.Cox, N.J. & Suarez, B.K. (1985) Genetic Analysis Workshop III: Two-point linkage analysis on pedigrees, nuclear families, sibships. Genet Epidem 2:205-206. 8.Suarez, B.K. & Cox, N.J. (1985) Linkage analysis for psychiatric disorders. I. Basic concepts. Psychiat Dev 3:219-243. 9.Cox, N.J. & Suarez, B.K. (1985) Linkage analysis for psychiatric disorders. II. Methodological considerations. Psychiat Dev 4:369-382. 10.Ewens, W.J., Shute, N.C.E., Cox, N.J., Price, R.A. & Spielman, R.S. (1986) Ascertainment considerations in the analysis of affected sib shared haplotype data. Genet Epidem Suppl 1:319-322. 11.Cox, N.J., Xiang, K., Bell, G.I. & Karam, J.H. (1988) Glucose transporter gene and non-insulin-dependent diabetes. Lancet II:793-794 (letter). 12.Vinik, A.I., Cox, N.J., Xiang, K-S., Fajans, S.S. & Bell, G.I. (1988) Linkage studies of maturity onset diabetes of the young -- R.W. pedigree. Diabetologia 31:778-780 (letter). 13.Cox, N.J., Baker, L. & Spielman, R.S. (1988) Insulin gene sharing in sib pairs with insulin-dependent diabetes mellitus: No evidence for linkage. Am J Hum Genet 42:167-172. 14.Price, R.A., Cox, N.J., Spielman, R.S., Van Loon, J.A., Maidak, B.L. & Weinshilboum, R.M. (1988) Inheritance of human platelet thermolabile phenol sulfotransferase (TL PST) activity. Genet Epidem 5:1-16. 15.Cox, N.J., Hodge, S.E., Marazita, M.L., Spence, M.A. & Kidd, K.K. (1988) Some effects of selection strategies on linkage analysis. Genet Epidem 5:289-297. 16.Cox, N.J., Bell, G.I. & Xiang, K. (1988) Linkage disequilibrium in the insulin/insulin-like growth factor II region of human chromosome 11. Am J Hum Genet 43:495-501. 17.Cox, N.J., Mela, A.P., Zmijewski, C.M. & Spielman, R.S. (1988) HLA-DR typing "at the DNA level": RFLP's and subtypes detected with a DR-beta cDNA probe. Am J Hum Genet 43:954-963. 18.Rajput-Williams, J., Knott, T.J., Wallis, S.C., Sweetnam, P., Yarnell, J., Cox, N.J., Bell, G.I., Miller, N.E. & Scott, J. (1988) Variation of apolipoprotein-B gene is associated with obesity, elevated blood cholesterol levels and coronary heart disease. Lancet ii:1442-1446. 3 Curriculum Vitae (cont.) Nancy J. Cox
    • 19.Xiang, K.S., Bell, G.I., Karam, J.H., Cox, N.J., Sanz, N. & Huang, P. (1988) The association of genes responsible for carbohydrate and lipid metabolism in Chinese with non-insulin-dependent diabetes mellitus. J Chinese Med 68:552-556 [in Chinese]. 20.Baur, M.P., Fimmers, R., Fritsche, R., et al. (1989) Genetic analysis of insulin-dependent diabetes mellitus (IDDM): The GAW5 multiplex family dataset. Genet Epidem 6:15-20. 21.Cox, N.J., Gogolin, K.J., Horvath, V.J., Barker, D.F., Wright, E., Tran, T., Skolnick, M.H., Boehm, B.O., Fehsel, K., Bertrams, J., Hodge, T.W., Acton, R.T., McGill, J., Elbein, S.C., Permutt, M.A., de Preval, C., Avoustin, P., Cambon-Thomsen, A., Robinson, D.M., Holbeck, S.L., Nepom, G.T., Schneider, P.M., Rittner, C., Toyoda, H., Rotter, J.I. & Spielman, R. (1989) Restriction fragment polymorphisms of the HLA-DR, HLA- DQ and insulin gene regions in insulin-dependent diabetes mellitus families: The Genetic Analysis Workshop 5 data. Genet Epidem 6:21-26. 22.Cox, N.J. & Spielman, R.S. (1989) The insulin gene and susceptibility to IDDM. Genet Epidem 6:65-70. 23.Xiang, K., Cox, N.J., Sanz, N., Huang, P., Karam, J.H. & Bell, G.I. (1989) Insulin receptor and apolipoprotein genes contribute to the development of non-insulin-dependent diabetes mellitus in Chinese Americans. Diabetes 38:17-23. 24.Cox, N.J., Epstein, P.A. & Spielman, R.S. (1989) Linkage studies on non-insulin-dependent diabetes mellitus (NIDDM) and the insulin and insulin receptor genes. Diabetes 38:653-658. 25.Cox, N.J., Reich, T., Rice, J., Elston, R., Scober, J., Keats, B. (1989) Segregation and linkage analyses of bipolar and major depressive illnesses in multigenerational pedigrees. J Psychiat Res 23:109-123. 26.Cox, N.J. & Bell, G.I. (1989) Disease associations: Chance, artifact, or susceptibility genes? Diabetes 38:947-950. 27.Matsutani, A., Koranyi, L., Cox, N.J. & Permutt, M.A. (1990) Polymorphisms of GLUT2 and GLUT4 genes: use in evaluation of genetic susceptibility to NIDDM in Blacks. Diabetes 39:1534-1542. 28.Bell, G.I., Wu, S., Newman, M., Fajans, S.S., Seino, M., Seino, S. & Cox, N.J. (1991) Diabetes mellitus: Identification of susceptibility genes. In "Etiology of Human Disease at the DNA Level", edited by Lindsten J, and Pettersson U, Raven Press, New York, pp. 93-113. 29.Bell, G.I., Xiang, K., Newman, M.V., Wu, S., Wright, L.G., Fajans, S.S., Spielman, R.S. & Cox, N.J. (1991) Gene for non-insulin-dependent diabetes mellitus (maturity-onset diabetes of the young subtype) is linked to DNA polymorphism on human chromosome 20q. Proc Natl Acad Sci USA 88:1484-1488. 30.Mangklabruks, A., Billerbeck, A-E., Wajchenberg, B., Knobel, M., Cox, N.J., DeGroot, L.J. & Medeiros- Neto, G. (1991) Genetic linkage studies of thyroid peroxidase (TPO) gene in families with TPO deficiency. J Clin Endocrinol Metab 72:471-476. 31.Mangklabruks, A., Cox, N.J. & DeGroot, L. (1991) Genetic factors in autoimmune thyroid disease analyzed by restriction fragment length polymorphisms of candidate genes. J Clin Endocrinol Metab 73:236-244. 32.Kong, A., Frigge, M., Cox, N.J. & Wong, W.H. (1992) Linkage analysis with adjustment for covariates: A method combining peeling with Gibbs sampling. Genetic Analysis Workshop 7: Issues in Gene Mapping and Detection of Major Genes. MacCluer JW, Chakravarti A, Cox D, Bishop DT, Bale SJ, Skolnick MH (eds.) Cytogenet Cell Genet 59:208-211. 33.Cox, N.J., Xiang, K.S., Fajans, S.S. & Bell, G.I. (1992) Mapping diabetes-susceptibility genes: Lessons learned from the search for a DNA marker for MODY. Diabetes 41:401-407. 34.Kong, A., Frigge, M., Irwin, M. & Cox, N.J. (1992) Importance sampling. I. Computing multi-model p values in linkage analysis. Am J Hum Genet 51:1413-1429. 35.Cox, N.J. (1993) Stuttering: A complex behavioral disorder for our times? Am J Med Genet (Neuropsychiatric Genetics) 48:177-178. 36.Stoffel, M., Xiang, K.S., Espinosa, III R., Cox, N.J., LeBeau, M.M. & Bell, G.I. (1993) cDNA sequence and localization of polymorphic human cytosolic phosphoenolpyruvate carboxykinase gene (PCK1) to choromosome 20, band q13.31: PCK1 is not tightly linked to maturity-onset diabetes of the young. Hum Mol Genet 2:1-4. 37.Lewis, B.A., Cox, N.J. & Byard, P.J. (1993) Segregation analysis of speech and language disorders. Behav Genet 23:291-297. 4 Curriculum Vitae (cont.) Nancy J. Cox
    • 38.Ambrose, N., Yairi, E. & Cox, N.J. (1993) Genetic aspects of early childhood stuttering. J Speech Hear Res 36:701-706. 39.Kong, A., Irwin, M., Cox, N.J. & Frigge, M. (1993) Sequential imputation in multilocus linkage analysis. Genet Epidemiol 10:483-488. 40.Cox, N.J. (1994) Maternal component in NIDDM transmission: How large an effect? Diabetes 43:166-168. 41.Kass, S., MacRae, C., Graber, H.L., Sparks, E.A., McNamara, D., Boudoulas, H., Basson, C.T., Baker, P.B. III, Cody, R.J., Fishman, M.C., Cox, N.J., Kong, A., Wooley, C.F., Seidman, J.G. & Seidman, C.E. (1994) A gene defect that causes conduction system disease and dilated cardiomyopathy maps to chromosome 1p1-1q1. Nature Genet 7:546-551. 42.Irwin, M., Cox, N.J. & Kong, C.A. (1994) Sequential imputation for multilocus linkage analysis. Proc Natl Acad Sci USA 91:11684-11688. 43.Weiss, R.E., Sunthornthepvarakul, T., Angkeow, P., Marcus-Bagley, D., Cox, N.J., Alper, C.A. & Refetoff, S. (1994) Linkage of familial dysalbuminemic hyperthyroxinemia to the albumin gene in a large Amish kindred. J Clin Endocrinol Metab 80:116-121. 44.Cook, E.H., Stein. M.A., Krasowski, M.D., Cox, N.J., Olkon, D.M., Keiffer, J.E. & Leventhal, B.L. (1995) Association of attention-deficit disorder and the dopamine transporter gene. Am J Hum Genet 56:993-998. 45.Tsaar, M.L., Menzel, S., Lai, F.P., Espinosa, III R., Concannon, P., Spielman, R.S., Hanis, C.L., Cox, N.J., Le Beau, M.M., German, M.S., Jan, L.Y., Bell, G.I. & Stoffel, M. (1995) Isolation of a cDNA clone encoding a KATP-channel-like protein expressed in insulin-secreting cells, localization of the human gene to chromosome band 21q22.1, and linkage studies with NIDDM. Diabetes 44:592-596. 46.Glaser, B., Chiu, K.C., Liu, L., Anker, R., Nestorowicz, A., Cox, N.J., Landau, H., Kaiser, N., Thornton, P.S., Stanley, C.A., Cerasi, E., Baker, L., Donis-Keller, H. & Permutt, M.A. (1995) Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews. Hum Mol Genet 4:879-886. 47.Stirling, B., Cox, N.J., Bell, G.I., Hanis, C.L., Spielman, R.S. & Concannon, P. (1995) Identification of microsatellite markers near the human ob gene and linkage studies in NIDDM affected sib pairs. Diabetes 44:999-1001. 48.Menzel, S., Yamagata, K., Trabb, J.B., Nerup, J., Permutt, M.A., Fajans, S.S., Menzel, R., Iwasaki, N., Omori, Y., Cox, N.J. & Bell, G.I. (1995) Localization of MODY3 to a 5 cM region of human chromosome 12. Diabetes 44:1408-1413. 49.Stirling, B., Cox, N.J., Bell, G.I., Hanis, C.L., Spielman, R.S. & Concannon, P. (1995) Linkage studies in NIDDM with markers near the sulfonylurea receptor gene. Diabetologia 38:1479-1481. 50.Shoulders, C.C., Grantham, T.T., North, J.D., Gaspardone, A., Tomai, F., DeFazio, A., Versaci, F., Gioffre, P.A. & Cox, N.J. (1996) Hypertriglyceridemia and the apolipoprotein III gene locus: lack of association with the variant insulin response element in Italian school children. Hum Genet 98:557-566. 51.Iwasaki, N., Kawamura, M., Yamagata, K., Cox, N.J., Karibe, S., Ohgawara, H., Inagaki, N., Seino, S., Bell, G.I. & Omori, Y. (1996) Identification of microsatellite markers near the human genes encoding the β-cell ATP-sensitive potassium channel and linkage studies with NIDDM in Japanese. Diabetes 45:267-269. 52.Gambino, V., Menzel, S., Trabb, J.B., Xiang, K.S., Lindner, T., Louït, A., Chen, E., Mereu, L.E., Furuta, H., Iwasaki, N., Kawamura, M., Omori, Y., Rietzsch, H., Schulze, J., Schröder, H.E., Concannon, P., Hanis, C.L., Spielman, R.S., Yamagata, K., Cox, N.J. & Bell, G.I. (1996) An approach for identifying simple sequences repeat DNA polymorphisms near cloned cDNAs and genes: linkage studies of the islet amyloid polypeptide/amylin and liver glycogen synthase genes and NIDDM. Diabetes 45:291-294. 53.Hanis, C.L., Boerwinkle, E., Chakraborty, R., Ellsworth, D.L., Concannon, P., Stirling, B., Morrison, V.A., Wapelhorst, B., Spielman, R.S., Goglin-Ewens, K.J., Shephard, J.M., Williams, S.R., Risch, N., Hinds, D., Iwasaki, N., Ogata, M., Omori, Y., Petzold, C., Rietzsch, H., Schröder, H.E., Schulze, J., Cox, N.J., Menzel, S., Boriraj, V.V., Chen, X., Lim, L.R., Lindner, T., Mereu, L.E., Wang, Y.Q., Xiang, K.S., Yamagata, K., Yang, Y. & Bell, G.I. (1996) A genome-wide search for human non-insulin-dependent (Type 2) diabetes genes reveals a major susceptibility locus on chromosome 2. Nature Genet 13:161-167. 5 Curriculum Vitae (cont.) Nancy J. Cox
    • 54.Stoffel, M., Le Beau, M.M., Espinosa, III R., Bohlander, S.F., Le Paslier, D., Cohen, D., Xiang, K-S., Cox, N.J., Fajans, S.S. & Bell, G.I. (1996) A yeast artificial chromosome-based map of the region of chromosome 20 containing the diabetes-susceptibility gene, MODY 1, and a myeloid leukemia related gene Proc Natl Acad Sci USA 93:3937-3941. 55.Yamagata, K., Takeda, J., Menzel, S., Chen, X., Eng, S., Lim, L.R., Concannon, P., Hanis, C.L., Spielman, R.S., Cox, N.J. & Bell, G.I. (1996) Searching for NIDDM susceptibility genes: studies of genes with triplet repeats expressed in skeletal muscle. Diabetologia 39:725-730. 56.Iwasaki, N., Kawamura, M., Ohgawara, H., Karibe, S., Cox, N.J., Bell, G.I. & Omori, Y. (1996) Sib-pair analysis of Japanese NIDDM patients. J Japan Diab Soc 39:409-416 [in Japanese]. 57.Yamagata, K., Oda, N., Kaisaki, P.J., Menzel, S., Furuta, H., Vaxillaire, M., Southam, L., Cox, R.D., Lathrop, M., Boriraj, V.V., Chen, X., Cox, N.J., Oda, Y., Yano, H., Le Beau, M.M., Yamada, S., Nishigori, H., Takeda, J., Fajans, S.S., Hattersley, A.T., Iwasaki, N., Hansen, T., Pedersen, O., Polonsky, K.S., Turner, R.C., Velho, G., Chèvre, J.C., Froguel, P. & Bell, G.I. (1996) Mutations in the hepatocyte nuclear factor-1α gene in maturity-onset diabetes of the young (MODY3). Nature 384:455-458. 58.Yamagata, K., Furuta, H., Oda, N., Kaisaki, P.J., Menzel, S., Cox, N.J., Fajans, S.S., Signorini, S., Stoffel, M. & Bell, G.I. (1996) Mutations in the hepatocyte nuclear factor-4α gene in maturity-onset diabetes of the young (MODY1). Nature 384:458-460. 59.Kong, A., Frigge, M., Bell, G.I., Lander, E., Daly, M. & Cox, N.J. (1997) Diabetes, dependence, asymptotics, significance, and selection. (Letter) Nature Genet 17:148. 60.Cook, E.H., Courchesne, R., Lord, C., Cox, N.J., Yan, S., Lincoln, A., Haas, R., Courchesne, E. & Leventhal, B.L. (1997) Evidence of linkage between the serotonin transporter and autistic disorder. Mol Psych 2:247-250. 61.Ober, C., Cox, N.J., Lester, L.A., Peterson, R., Gidley, H., Pluzhnikov, A., Anderson, J., Solway, J., Leff, A., Wolf, R., Wylam, M., Kurtz, B., Richardson, A. & Parry, R. (1997) A genome-wide search for asthma susceptibility loci in ethnically diverse populations: the collaborative study on the genetics of asthma (CSGA). Nature Genet 15:389-392. 62.Bell, G.I., Cox, N.J., Lindner, T., Concannon, P., Spielman, R.S., Boerwinkle, E. & Hanis, C.L. (1997) Genetics of NIDDM in the Mexican Americans of Starr County, Texas: an update. Diabetes Reviews 5:277-283. 63.Boehnke, M. & Cox, N.J. (1997) Accurate inference of relationships in sib-pair linkage studies. Am J Hum Genet 61:423-429. 64.Ober, C., Weitkamp, L.R., Cox, N.J., Dytch, H., Kostyu, D., Elias, S. (1997) HLA and mate choice in humans. Am J Hum Genet 61:497-504. 65.Ambrose, N.G., Cox, N.J., Yairi, E. (1997) The genetic basis of persistence and recovery in stuttering. J Speech, Language, Hear Res 40:567-580. 66.Kong, A. & Cox, N.J. (1997) Allele sharing models: LOD scores and accurate linkage tests. Am J Hum Genet 61:1179-1188. 67.Lindner, T., Gragnoli, C., Schulze, J., Rietzsch, H., Petzold, C., Schröder, H.E., Cox, N.J. & Bell, G.I. (1997) The 31-cM region of chromosome 11 including the obesity gene Tubby and ATP-sensitive potassium channel genes, SUR1 and Kir6.2 does not contain a major susceptibility locus for NIDDM in 127 non-Hispanic white affected sibships. Diabetes 46:1227-1229. 68.Kong, A., Frigge, M., Bell, G.I., Lander, E., Daly, M. & Cox, N.J. (1997) Diabetes, dependence, asymptotics, significance and selection. Nature Genet 17:148. 69.Ober, C. & Cox, N.J. (1998) Mapping genes for complex traits in founder populations. Clin Exper Allergy 28:101-105. 70.Cook, E.H., Courchesne, R.Y., Cox, N.J., Lord, C., Pizzo, S., Gonen, D., Guter, S.J., Lincoln, A., Nix, K., Haas, R., Leventhal, B.L., Courchesne, E. (1998) Linkage disequilibrium mapping with 15q11-13 markers in autistic disorder. Am J Hum Genet 62:1077-1083. 71.Ober, C., Cox, N.J., Abney, M., Di Rienzo, A., Lander, E.S., Changyaleket, B., Gidley, H., Kurtz, B., Lee, J., Nance, M., Petterson, A., Prescott, J., Richardson, A., Schlenker, E., Summerhill, E., Willadsen, S., Parry, 6 Curriculum Vitae (cont.) Nancy J. Cox
    • R. & the Collaborative Study on the Genetics of Asthma. (1998) Genome-wide search for asthma susceptibility loci in a founder population. Hum Molec Genet 7:1393-1398. 72.Concannon, P., Gogolin-Ewens, K.J., Hinds, D.A., Wapelhorst, B., Morrison, V.A., Stirling, B., Mitra, M., Farmer, J., Williams, S.R., Cox, N.J., Bell, G.I., Risch, N., & Spielman, R.S. (1998) A second generations screen of the human genome for susceptibility to insulin-dependent diabetes mellitus. Nature Genet 19:292-296. 73.Cox, N.J., Frigge, M., Nicolae, D.L., Concannon, P., Hanis, C.L., Bell, G.I. & Kong, A. (1999) Loci on chromosomes 2 (NIDDM1) and 15 interact to increase susceptibility to type 2 diabetes. Nature Genet 21:213-215. 74.Pannain, S., Weiss, R.E., Jackson, C.E., Dian, D., Beck, J.C., Sheffield, V., Cox, N.J. & Refetoff, S. (1999) Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: Power and limits of homozygosity mapping. J Clin Endocrinol Metab 84:1061-1071. 75.Ober, C., Tsalenko, A., Willadsen, S.A., Newman, D.L., Daniel, R., Wu, X., Andal, J., Cox, N.J. (1999) Genome-wide screen for atopy susceptibility alleles in the Hutterites. Clin Exp Allergy Suppl 4:11-15. 76.Hinokio, Y., Horikawa, Y., Furuta, H., Cox, N.J., Iwasaki, N., Honda, M., Ogata, M., Iwamoto, Y., & Bell, G.I. (2000) β-Cell Transcription factors and diabetes: no evidence for diabetes-associated mutations in the hepatocyte nuclear factor-3β gene (HNF3B) in Japanese patients with maturity-onset diabetes of the young. Diabetes 49:302-305. 77.Ober, C., Leavitt, S.A., Tsalenko, A., Howard, T.D., Hoki, D.M., Daniel, R., Newman, D.L., Wu, X., Parry, R., Lester, L.A., Solway, J., Blumenthal, M., King, R.A., Xu, J., Meyers, D.A., Bleecker, E.R. & Cox, N.J. (2000) Variation in the interleukin 4-receptor α gene confers susceptibility to asthma and atopy in ethnically diverse populations. Am J Hum Genet 66:517-526. 78.Baier, L.J., Permana, P.A., Yang, X., Pratley, R.E., Hanson, R.L., Shen, G-Q., Mott, D., Knowler, W.C., Cox, N.J., Horikawa, Y., Oda, N., Bell, G.I. & Bogardus, C. (2000) A calpain-10 gene polymorphism is associated with reduced muscle mRNA levels and insulin resistance. J Clin Invest 106:R69-R73. 79.Horikawa, Y., Oda, N., Cox, N.J., Li, X., Orho-Melander, M., Hara, M., Hinokio, Y., Lindner, T.H., Mashima, H., Schwarz, P.E.H., del Bosque-Plata, L., Horikawa, Y., Oda, Y., Yoshiuchi, I., Colilla, S., Polonsky, K.S., Shan, W., Concannon, P., Iwasaki, N., Schulze, J., Baier, L.J., Boguardus, C., Groop, L., Boerwinkle, E., Hanis, C.L. & Bell, G.I. (2000) Genetic variation in the calpain 10 gene (CAPN10) is associated with type 2 diabetes mellitus. Nature Genet 126:163-175. 80.Ober, C., Tsalenko, A., Parry, R. & Cox, N.J. (2000) A second-generations genomewide screen for asthma- susceptibility alleles in a founder population. Am J Hum Genet 67:1154-1162. 81.Hara, M., Wang, X., Paz, V.P., Cox, N.J., Iwasaki, N., Ogata, M., Iwamoto, Y. & Bell, G.I. (2000) No diabetes-associated mutations in the coding region of the hepatocyte nuclear factor-4gamma gene (HNF4G) in Japanese patients with MODY. Diabetologia 43:1064-9. 82.Horikawa, Y., Horikawa, Y., Cox, N.J., Iwasaki, N., Ogata, M., Iwamoto, Y., Schwitzgebel, V., German, M.S. & Bell, G.I. (2000) Beta-cell transcription factors and diabetes: no evidence for diabetes-associated mutations in the gene encoding the basic helix-loop-helix transcription factor neurogenic differentiation 4 (NEUROD4) in Japanese patients with MODY. Diabetes. 49:1955-1957. 83.Cox, N.J. (2001) Introduction: interactions in asthma. Genet Epidemiol 21:S264-265. 84.Colilla, S., Tsalenko, A., Pluznikov, A. & Cox, N.J. (2001) Genome-wide approaches for identifying interacting susceptibility regions for asthma. Genet Epidemiol 21:S266-271. 85.Evans, J.C., Frayling, T.M., Cassell, P.G., Saker, P.J., Hitman, G.A., Walker, M., Levy, J.C., O’Rahilly, S., Rao, P.V.S., Bennett, A.J., Jones, E.C., Menzel, S., Prestwich, P., Simecek, N., Wishart, M., Dhillon, R., Fletcher, C., Millward, A., Demaine, A., Wilkin, T., Horikawa, Y., Cox, N.J., Bell, G.I., Ellard, S., McCarthy MI, Hattersley AT (2001) Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom. Am J Hum Genet 69:544-552. 86.Xu, J., Meyers, D.A., Ober, C., Blumenthal, M.N., Mellen, B., Barnes, K.C., King, R.A., Lester, L.A., Howard, T.D., Solway, J., Langefeld, C.D., Beaty, T.H., Rich, S.S., Bleecker, E.R. & Cox, N.J. (2001) 7 Curriculum Vitae (cont.) Nancy J. Cox
    • Genomewide screen and identification of gene-gene interactions for asthma-susceptibility loci in three U.S. populations: Collaborative study on the genetics of asthma. Am J Hum Genet 68:1437-1446. 87.Colilla, S., Cox, N.J. & Ehrmann, D.A. (2001) Heritability of insulin secretion and insulin action in women with polycystic ovary syndrome and their first degree relatives. J Clin Endocrinol Metab 86:2027-2031. 88.del Bosque-Plata, L., Lin, J., Horikawa, Y., Schwarz, P.E., Cox, N.J., Iwasaki, N., Ogata, M., Iwamoto, Y., German, M.S. & Bell, G.I. (2001) Mutations in the coding region of the neurogenin 3 gene (NEUOROG3) are not a common cause of maturity-onset diabetes of the young in Japanese subjects. Diabetes 50:694-696. 89.Mathias, R.A., Freidhoff, L.R., Blumenthal, M.N., Meyers, D.A., Lester, L., King, R., Xu, J.F., Solway, J., Barnes, K.C., Pierce, J., Stine, O.C., Togias, A., Oetting, W., Marshik, P.L., Hetmanski, J.B., Huang, S.K., Ehrlich, E., Dunston, G.M., Malveaux, F., Banks-Schlegel, S., Cox, N.J., Bleecker, E., Ober, C., Beaty, T.H. & Rich, S.S. (2001) Genome-wide linkage analyses of total serum IgE using variance components analysis in asthmatic families. Genet Epidemiol. 20:340-355. 90.Cox, N.J., Wapelhorst, B., Morrison, V.A., Johnson, L., Pinchuk, L., Spielman, R.S., Todd, J.A., Concannon, P. (2001) Seven regions of the genome show evidence of linkage to type 1 diabetes in a consensus analysis of 767 multiplex families. Am J Hum Genet 69:820-830 91.Sreenan, S.K., Zhou, Y-P., Otani, K., Hansen, P.A., Currie, K.P.M., Pan, C-Y., Lee, J-P., Ostrega, D.M., Pugh, W., Horikawa, Y., Cox, N.J., Hanis, C.L., Burant, C.F., Fox, A.P., Bell, G.I. & Polonsky, K.S. (2001) Calpains play a role in insulin secretion and action. Diabetes 50:2013-2020. 92.Cox, N.J. (2001) Challenges in identifying genetic variation affecting susceptibility to type 2 diabetes: Examples from studies of the calpain-10 gene. Hum Molec Genet 10:2301-2305. 93.Newman, D.L., Abney, M., McPeek, M.S., Ober, C. & Cox, N.J. (2001) The importance of genealogy in determining genetic associations with complex traits. Am J Hum Genet 69:1146-1148. 94.Cox, N.J. (2001) Computational issues in mapping variation affecting susceptibility to complex disorders: the chicken and the egg. Theor Popul Biol 60:221-25. 95.Nicolae, D.L. & Cox, N.J. (2002) MERLIN...and the geneticist's stone? Nat Genet 30:3-4. Invited commentary 96.Lynn, S., Evans, J.C., White, C., Frayling, T.M., Hattersley, A.T., Turnbull, D.M., Horikawa, Y., Cox, N.J., Bell, G.I. & Walker, M. (2002) Variation in the calpain-10 gene affects blood glucose levels in the British population. Diabetes 51:247-250. 97.Sun, L., Cox, N.J. & McPeek, M.S. (2002) A statistical method for identification of polymorphisms that explain a linkage result. Am J Hum Genet. 70:399-411. 98.Elbein, S.C., Chu, W., Ren, Q., Hemphill, C., Schay, J., Cox, N.J., Hanis, C.L. & Hasstedt, S.J. (2002) Role of calpain-10 gene variants in familial type 2 diabetes in Caucasians. J Clin Endocrinol Metab 87:650-654. 99.Hara, M., Alcoser, S.Y., Qaadir, A., Beiswenger, K.K., Cox, N.J. & Ehrmann, D.A. (2002) Insulin resistance is attenuated in women with polycystic ovary syndrome with the Pro(12)Ala polymorphism in the PPARgamma gene. J Clin Endocrinol Metab 87:772-775. 100.Fullerton, S.M., Bartoszewicz, A., Ybazeta, G., Horikawa, Y., Bell, G.I., Kidd, K.K., Cox, N.J., Hudson, R.R. & Di Rienzo, A. (2002) Geographic and haplotype structure of candidate type 2 diabetes susceptibility variants at the calpain-10 locus. Am J Hum Genet 70:1096-1106. 101.Ehrmann, D. A., Schwartz, P. E. H., Hara, M., Tang, X., Horikawa, Y., Imperial, J., Bell, G. I., Cox, N. J. (2002) Relationship of calpain-10 genotype to phenotypic features of polycystic ovary syndrome. J. Clin. Endocrinol. Metab. 87:1669-1673. 102.Haddad, L., Evans, J.C., Gharani, N., Robertson, C., Rush, K., Wiltshire, S., Frayling, T.M., Wilkin, T.J., Demaine, A., Millward, A., Hattersley, A.T., Conway, G., Cox, N.J., Bell, G.I., Franks, S. & McCarthy, M.I. (2002) Variation within the type 2 diabetes susceptibility gene calpain-10 and polycystic ovary syndrome. J Clin Endocrinol Metab 87:2606-2610. 103.Cox, N.J. (2002) Calpain 10 and genetics of type 2 diabetes. Curr Diab Rep. 2:186-90. 104.Pritchard, J.K. & Cox, N.J. (2002) The allelic architecture of human disease genes: common disease— common variant—or not? Human Molecular Genetics 11:2417-2423. 8 Curriculum Vitae (cont.) Nancy J. Cox
    • 105.Rasmussen, S.K., Urhammer, S.A., Berglund, L., Jensen, J.N., Hansen, L., Echwald, S.M., Borch-Johnsen, K., Horikawa, Y., Mashima, H., Lithell, H., Cox, N.J., Hansen, T., Bell, G.I., Pederson, O. (2002) Variants within the calpain-10 gene on chromosome 2q37 (NIDDM1) and relationships to type 2 diabetes, insulin resistance, and impaired acute insulin secretion among Scandinavian Caucasians. Diabetes 51(12):3561-3567. 106.Ehrmann, D.A., Tang, X., Yoshiuchi, I., Cox, N.J., Bell, G.I. (2002) Relationship of insulin receptor substrate-1 and -2 genotypes to phenotypic features of polycystic ovary syndrome. J Clin Endocrinol Metab 87(9):4297-4300. 107.Hanna, G.L., Vennstra-VanderWeele, J., Cox, N.J., Boehnke, M., Himle, J.A., Curtis, G.C., Leventhal, B.L., Cook, E.H. Jr. (2002) Genome-wide linkage analysis of families with obsessive-compulsive disorder ascertained through pediatric probans. Am J Med Genet 114(5):541-52. 108.Colilla, S., Nicolae, D., Pluzhnikov, A., Blumethal, M.N., Beaty, T.H., Bleecker, E.R., Lange, E.M., Rich, S.S., Meyers, D.A., Ober, C., Cox, N.J., and the CSGA (2003) Evidence for gene-environment interactions in a linkage study of asthma and smoking exposure. J Allergy Clin Immunol 111(4):840-846. 109.Zhou, Y.P., Sreenan, S., Pan, C.Y., Currie, K.P., Bindokas, V.P., Horikawa, Y., Lee, J.P., Ostrega, D., Ahmed, N., Balswin, A.C., Cox, N.J., Fox, A.P., Miller, R.J., Bell, G.I., Polonsky, K.S. (2003) A 48-hour exposure of pancreatic islets to calpain inhibitors impairs mitochondrial fuel metabolism and the exocytosis of insulin. Metabolism 52(5):528-534. 110.Canizales-Quinteros, S., Aguilar-Salinas, C.A., Reyes-Rodriguez, E., Riba, L., Rodriguez-Torres, M., Ramirez-Jimenez, S., Huertas-Vazquez, A., Fragoso-Onitveros, V., Zentell-Dehesa, A. Ventura-Gallegos, J. L., Vega-Hernandez, G., Lopez-Estrada, A., Auron-Gomex-Perez, F., Rull, J., Cox, N.J., Bell, G.I., Tusie-Luna, M.T. (2003) Locus on chromosome 6p linked to elevated HDL cholesterol serum levels and to protection against premature atherosclerosis in a kindred with familial hypercholesterolemia. Circ Res 92(5):569-576. 111.Tsalenko A., Ben-Dor A., Cox, N.J., Yakhini, Z. (2003) Methods for analysis and visualization of SNP genotype data for complex diseases. Pac Symp Biocomput. 548-61. 112.Iwasaki, N., Cox, N.J., Wang, Y.Q., Schwartz, P.E., Bell, G.I., Honda, M., Imura, M., Ogata, M., Saito, M., Kamatani, N., Iwamoto, Y. (2003) Mapping genes influencing type 2 diabetes risk and BMI in Japanese subjects. Diabetes 52(1):209-13. 113.Naoumova, R.P., Bonney, S.A., Eichenbaum-Voline, S., Patel, H.N., Jones, B., Jones, E.L., Amey, J., Solilla, S., Neuwirth, C.K., Allotey, R., Seed, M., Betteridge, D.J., Galton, D.J., Cox, N.J., Bell, G.I., Scott, J., Shoulders, C.C. (2003) Confirmed Locus on chromosome 11p and candidate loci on 6q and 8p for the triglyceride and cholesterol traits of combined hyperlipidemia. Arterioscler Thromb Vasc Biol. 23 (11):2070-7. 114.Ng, M.C., So, W.Y., Cox, N.J., Lam, V.K., Cockram, C.S., Critchley, J.A., Bell, G.I., Chan, J.C. (2004) Genome-wide Scan for Type 2 Diabetes Loci in Hong Kong Chinese and Confirmation of a Susceptibility Locus on Chromosome 1q21-q25. Diabetes. 53 (6):1609-13. 115.Cox, N.J., Hayes, M.G., Roe, C.A., Tsuchiya, T., Bell, G.I. (2004) Linkage of calpain 10 to type 2 diabetes: the biological rationale. Diabetes. 53 Suppl 1:S19-25. Review. 116.del Bosque-Plata, L., Aguilar-Salinas, C.A., Tusie-Luna, M.T., Ramirez-Jimenez, S., Rodriguez-Torres, M., Auron-Gomez, M., Ramirez, E., Velasco-Perez, M.L., Ramirez-Silva, A., Gomez-Perez, F., Hanis, C.L., Tsuchiya, T., Yoshiuchi, I., Cox, N.J., Bell, G.I. (2004) Association of the calpain-10 gene with type 2 diabetes mellitus in a Mexican population. Mol Genet Metab 81 (2):122-6. 117.Chen, Y.S., Akula, N., Detera-Wadleigh, S.D., Schulze, T.G., Thomas, J., Potash, J.B., DePaulo, J.R., McInnis, M.G., Cox, N.J., McMahon, F.J. (2004) Findings in an independent sample support an association between bipolar affective disorder and the G72/G30 locus on chromosome 13q33. Mol Psychiatry. 9 (1):87-92. 118.Blumenthal, M.N., Langefeld, C.D., Beaty, T.H., Bleecker, E.R., Ober, C., Lester, L., Lange, E., Barnes, K.C., Wolf, R., King, R.A., Solway, J., Oetting, W., Meyers, D.A., Rich, S.S. (2004) A genome-wide search for allergic response (atopy) genes in three ethnic groups: Collaborative Study on the Genetics of Asthma. Hum Genet. 114(2):157-64. 119.Blumenthal, M.N., Ober, C., Beaty, T.H., Bleecker, E.R., Langefeld, C.D., King, R.A., Lester, L., Cox, N.J., Barnes, K., Togias, A., Mathias, R., Meyers, D.A., Oetting, W., Rich, S.S. for the CSGA (2004) Genome 9 Curriculum Vitae (cont.) Nancy J. Cox
    • scan for loci linked to mite sensitivity: the Collaborative Study on the Genetics of Asthma (CSGA). Genes and Immunity (2004), 1-6. 120.Ng, M.C., So, W.Y., Lam, V.K., Cockram, C.S., Bell, G.I., Cox, N.J., Chan, J.C. (2004) Genome-wide scan for metabolic syndrome and related quantitative traits in Hong Kong Chinese and confirmation of a susceptibility locus on chromosome 1q21-q25. Diabetes 53(10):2676-83. 121.Schulze, T.G., Buervenich, S., Badner, J.A., Steele, C.J., Detera-Wadleigh, S.D., Dick, D., Foroud, T., Cox, N.J., MacKinnon, D.F., Potash, J.B., Berrettini, W.H., Byerley, W., Coryell, W., DePaulo, J.R. Jr, Gershon, E.S., Kelsoe, J.R., McInnis, M.G., Murphy, D.L., Reich, T., Scheftner, W., Nurnberger, J.I. Jr, McMahon, F.J. (2004) Loci on chromosomes 6q and 6p interact to increase susceptibility to bipolar affective disorder in the national institute of mental health genetics initiative pedigrees. Biol Psychiatry 56(1):18-23. 122.Cox N.J. (2004) Human genetics: an expression of interest. Nature 430(7001):733-4. Invited commentary 123.Nicolae, D., Cox, N.J., Lester, L.A., Schneider, D., Tan, Z., Billstrand, C., Kuldanek, S., Donfack, J., Kogut, P., Patel, N.M., Goodenbour, J., Howard, T., Wolf, R., Koppelman, G.H., White, S.R., Parry, R., Postma, D.S., Meyers, D., Bleecker, E.R., Hunt, J.S., Solway, J., Ober, C. (2005) Fine Mapping and Positional Candidate Studies Identify HLA-G as an Asthma Susceptibility Gene on Chromosome 6p21. Am J Hum Genet. 76(2):349-57. 124.Iwasaki, N., Horikawa, Y., Tsuchiya, T., Kitamura, Y., Nakamura, T., Tanizawa, Y., Oka, Y., Hara, K., Kadowaki, T., Awata, T., Honda, M., Yamashita, K., Oda, N., Yu, L., Yamada, N., Ogata, M., Kamatani, N., Iwamoto, Y., Del Bosque-Plata, L., Hayes, M.G., Cox, N.J., Bell, G.I. (2005) Genetic variants in the calpain-10 gene and the development of type 2 diabetes in the Japanese population. J Hum Genet 50(2):92-8. 125. Riaz, N., Steinberg, S., Ahmad, J., Pluzhnikov, A., Riazuddin, S., Cox, N.J., Drayna, D. (2005) Genomewide significant linkage to stuttering on chromosome 12. Am J Hum Genet 76(4):647-51. 126. Clark, V.J., Cox, N.J., Hammond, M., Hanis, C.L., Di Rienzo, A. (2005) Haplotype structure and phylogenetic shadowing of a hypervariable region in the CAPN10 gene. Hum Genet 117:258-66. 127. Wittke J.K., Pluzhnikov, A., Cox, N.J. (2005) Rational inferences about departures from Hardy- Weinberg equilibrium. Am J Hum Genet 76:967-86. 128. Ng, M.C.Y., Miyake, K., So, W.Y., Poon, E.W.M, Lam, V.K.L., Li, J.K.Y., Cox, N.J., Bell, G.I., Chan, J.C.N. (2005) The linkage and association of the gene encoding upstream stimulatory factor 1 with type 2 diabetes and metabolic syndrome in the Chinese population. Diabetologia 48:2018-24. 129. Hayes, M.G., del Bosque-Plata, L., Tsuchiya, T., Hanis, C.L., Bell, G.I., Cox, N.J. (2005) Patterns of linkage disequilibrium in the type 2 diabetes gene calpain-10. Diabetes 54:3573-6. 130. Suresh, R., Ambrose, N., Roe, C., Pluzhnikov, A., Wittke-Thompson, J.K., Ng, M.C., Wu, X., Cook, E.H., Lundstrom, C., Garsten, M., Ezrati, R., Yairi, E., Cox, N.J. (2006) New complexities in the genetics of stuttering: significant sex-specific linkage signals. Am J Hum Gene 78:554-63. 131. Suarez, B.K., Duan, J., Sanders, A.R., Hinrichs, A.L., Jin, C.H., Hou, C., Buccola, N.G., Hale, N., Weilbaecher, A.N., Nertney, D.A., Olincy, A., Green, S., Schaffer, A.W., Smith, C.J., Hannah, D.E., Rice, J.P., Cox, N.J., Martinez, M., Mowry, B.J., Amin, F., Silverman, J.M., Black, D.W., Byerley, W.F., Crowe, R.R., Freedman, R., Cloninger, C.R., Levinson, D.F., Gejman, P.V. (2006) Genomewide linkage scan of 409 European-Ancestry and African American families with schizophrenia: Suggestive evidence of linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the combined sample. Am J Hum Genet 78:315-33. 132. Dickel, D.E., Veenstra-Vanderweele, J., Cox, N.J., Wu, X., Fischer, D.J., Van Etten-Lee, M., Himle, J.A., Leventhal, B.L., Cook, E.H. Jr, Hanna, G.L. (2006) Association testing of the positional and functional candidate gene SLC1A1/EAAC1 in early-onset obsessive-compulsive disorder. Arch Gen Psychiat 63:776-85. 133. Nicolae, D.L., Wu, X., Miyake, K., Cox, N.J. (2006) GEL: A novel genotype calling algorithm using empirical likelihood. Bioinformatics 22:1942-7. 134. Pihlajamaki, J., Salmenniemi, U., Vanttinen, M., Ruotsalainen, E., Kuusisto, J., Vauhkonen, I., Kainulainen, S., Ng, M.C., Cox, N.J., Bell, G.I., Laakso, M. (2006) Common polymorphisms of calpain-10 are associated with abdominal obesity in subjects at high risk of type 2 diabetes. 10 Curriculum Vitae (cont.) Nancy J. Cox
    • Diabetologia 49:1560-6. 135. Nicolae, D.L., Wen, X., Voight, B.F., Cox, N.J. (2006) Coverage and characteristics of the Affymetrix GeneChip Human Mapping 100K SNP set. PLoS Genet 2:e67. 136 Yokoi, N., Kanamori, M., Horikawa, Y., Takeda, J., Sanke, T., Furuta, H., Nanjo, K., Mori, H., Kasuga, M., Hara, K., Kadowaki, T., Tanizawa, Y., Oka, Y., Iwami, Y., Ohgawara, H., Yamada, Y., Seino, Y., Yano, H., Cox, N.J., Seino, S. (2006) Association studies of variants in the genes involved in pancreatic (beta)-cell function in type 2 diabetes in Japanese. Diabetes 55:2379-86. 137. Tsuchiya, T., Schwarz, P.E., Bosque-Plata, L.D., Hayes, M.G., Dina, C., Froguel, P., Towers, G.W., Fischer, S., Temelkova-Kurktschiev, T., Rietzsch, H., Graessler, J., Vcelak, J., Palyzova, D., Selisko, T., Bendlova, B., Schulze, J., Julius, U., Hanefeld, M., Weedon, M.N., Evans, J.C., Frayling, T.M., Hattersley, A.T., Orho-Melander, M., Groop, L., Malecki, M.T., Hansen, T., Pedersen, O., Fingerlin, T.E., Boehnke, M., Hanis, C.L., Cox, N.J., Bell, G.I. (2006) Association of the calpain-10 gene with type 2 diabetes in Europeans: results of pooled and meta-analyses. Mol Genet Metab 89:174-84. 138. Kurz, T., Hoffjan, S., Hayes, M.G., Schneider, D., Nicolae, R., Heinzmann, A., Jerkic, S.P., Parry, R., Cox, N.J., Deichmann, K.A., Ober, C. (2006) Fine mapping and positional candidate studies on chromosome 5p13 identify multiple asthma susceptibility loci. J Allergy Clin Immunol 118:396-402. 139. Bourgain, C., Genin, E., Cox, N., Clerget-Darpoux, F. (2006) Are genome-wide association studies all that we need to dissect the genetic component of complex human diseases? Eur J Hum Genet 15(3):260-3. 140. Huang, R.S., Duan, S., Bleibel, W.K., Kistner, E.O., Zhang, W., Clark, T.A., Chen, T.X., Schweitzer, A.C., Blume, J.E., Cox, N.J., Dolan, M.E. (2007) A genome-wide approach to identify genetic variants that contribute to etoposide-induced cytotoxicity. Proc Natl Acad Sci USA 104(23):9758-63. 141. Zhang, W., Bleibel, W.K., Roe, C.A., Cox, N.J., Dolan, M.E. (2007) Gender-specific differences in expression in human lymphoblastoid cell lines. Pharmacogenet Genomics 17(6):447-50. 142. Hoffmann, K., Mattheisen, M., Dahm, S., Nürnberg, P., Roe, C., Johnson, J., Cox, N.J., Wichmann, H.E.., Wienker, T.F., Schulze, J., Schwarz, P.E., Lindner, T.H. (2007) A German genome-wide linkage scan for type 2 diabetes supports the existence of a metabolic syndrome locus on chromosome 1p36.13 and a type 2 diabetes locus on chromosome 16p12.2. Diabetologia 50(7):1418-22. 143. Wittke-Thompson, J.K., Ambrose, N., Yairi, E., Roe, C., Cook, E.H., Ober, C., Cox, N.J. (2007) Genetic studies of stuttering in a founder population. J Fluency Disord 32(1):33-50. 144. Carter, K.W., Pluzhnikov, A., Timms, A.E., Miceli-Richard, C., Bourgain, C., Wordsworth, B.P., Jean-Pierre, H., Cox, N.J., Palmer, L.J., Breban, M., Reveille, J.D., Brown, M.A. (2007) Combined analysis of three whole genome linkage scans for Ankylosing Spondylitis. Rheumatology 46(5):763-71. 145 Hanna, G.L., Veenstra-Vanderweele, J., Cox, N.J., Etten, M.V., Fischer, D.J., Himle, J.A., Bivens, N.C., Wu, X., Roe, C.A., Hennessy, K.A., Dickel, D.E., Leventhal, B.L., Cook, Jr. E.H. (2007) Evidence for a susceptibility locus on chromosome 10p15 in early-onset obsessive-compulsive disorder. Biol Psych 62(8):856-62. 146. Liu, W., Wu, X., Zhang, W., Montenegro, R.C., Fackenthal, D.L., Spitz, J.A., Huff, L.M., Innocenti, F., Das, S., Cook, E.H., Jr, Cox, N.J., Bates, S.E., Ratain, M.J. (2007) Relationship of EGFR mutations, expression, amplification, and polymorphisms to epidermal growth factor receptor inhibitors in the NCI60 cell lines. Clin Cancer Res 13:6788-95. 147. Maitland, M.L., Ratain, M.J., Cox, N.J. (2007) Interpreting P values in pharmacogenetics studies: A call for process and perspective. J Clin Oncol 25(29):4513-5. 148. Støy, J., Edghill, E.L., Flanagan, S.E., Ye, H., Paz, V.P., Pluzhnikov, A., Below, J.E., Hayes, M.G., Cox, N.J., Lipkind, G.M., Lipton, R.B., Greeley, S.A., Patch, A.M., Ellard, S., Steiner, D.F., Hattersley, A.T., Philipson, L.H., Bell, G.I.; Neonatal Diabetes International Collaborative Group (2007) Insulin gene mutations as a cause of permanent neonatal diabetes. Proc Natl Acad Sci USA 104(38):15040-4. 149. Hayes, M.G., Pluzhnikov, A., Miyake, K., Sun, Y., Ng, M.C., Roe, C.A., Below, J.E., Nicolae, R.I., Konkashbaev, A., Bell, G.I., Cox, N.J., Hanis, C.L. (2007) Identification of type 2 diabetes genes in 11 Curriculum Vitae (cont.) Nancy J. Cox
    • Mexican Americans through genome-wide association studies. Diabetes 56(12):3033-44. 150. Potash, J.B., Buervenich, S., Cox, N.J., Zandi, P.P., Akula, N., Steele, J., Rathe, J.A., Avramopoulos, D., Detera-Wadleigh, S.D., Gershon, E.S., DePaulo, J.R., Jr, Feinberg, A.P., McMahon, F.J.; NIMH Genetics Initiative Bipolar Disorder Consortium (2008) Gene-based SNP mapping of a psychotic bipolar affective disorder linkage region on 22q12.3: association with HMG2L1 and TOM1. Am J Med Genet B Neuropsychiatr Genet 147(1):59-67. Non-peer reviewed reports: 1. Xiang, K., Cox, N.J., Hallewell, R.A., and Bell, G.I. (1987) Multiple Taq I RFLPs at the human manganese superoxide dismutase locus on chromosome 6. Nucl Acids Res 15:7654. 2. Xiang, K., Cox, N.J., Karam, J.H., and Bell, G.I. (1987) Bgl II RFLP at the human erythrocyte/HepG2- type glucose transporter (GLUT) locus on chromosome 1. Nucl Acids Res 15:9101. 3. Xiang, K., Cox, N.J., and Bell, G.I. (1988) Apa I and Sst I RFLPs at the insulin-like growth factor II (IGF2) locus on chromosome 11. Nucl Acids Res 16:3599. 4. Cox, N.J., Spielman, R.S., Kahn, C.R., Mueller-Weiland, D., Kriauciuinas, K.M., and Taub, R. (1988) Four RFLPs of the insulin receptor gene: Pst I, Kpn I, Rsa I (2 RFLPs). Nucl Acids Res 16:8204. 5. Cox, N.J., Spielman, R.S., Kahn, C.R., Muller-Weiland, D., Kriauciuinas, K.M., and Taub, R. (1989) Four RFLPs of the insulin receptor gene: Pst I, Kpn I, Rsa I (2 RFLPs). Nucl Acids Res 17:820. Book Chapters 1. Bell, G.I., Cockburn, B.N., Cox, N.J., Daniel, J.C., del Bosque Plata, L., Fajans, S.S., Gragnoli, C., Hara, M., Horikawa, Y., Horikawa, Y., Iwamoto, Y., Iwasaki, N., Li, X., Mashima, H., Njølstad, P.R., Ogata, M., Patterson, B., Paz, V.P., Polonsky, K.S., Qaadir, A., So, W.Y., Wang, X., & Ye, H. (1999) Maturity-onset diabetes of the young - a model for genetic studies of diabetes mellitus. In A Common Disease-Genetic and Pathogenetic Aspects of Multifactorial Diseases Edited by Imura, H., Kasuga, M., and Nakao, K., Elsevier Science pp 107-120. 2. Cox, N.J. (2002) Approaches to identifying genetic variation for complex phenotypes. In Genome Science- Towards a New Paradigm? Edited by H. Yoshikawa, N. Ogasawara, N. Satoh; Elsevier Science BV, Amsterdam, The Netherlands, pp. 241-250. Invited Speaker – Meetings, Seminars & Symposia Foreign 09/98 Plenary Lecture, 1998 International Genetic Epidemiology Society Meeting, Arcachon, France 11/98 Invited Speaker, New Horizon in the Pathogenesis of Diabetes Mellitus, Kyoto, Japan 04/00 Invited Speaker, Diabetes Conference, Denmark 06/00 Invited Speaker, German Diabetes Meeting, Aachen, Germany 07/00 Invited Speaker, Burroughs Wellcome Trust, Cambridge, England 07/00 Invited Seminar, Steno Diabetes Center, Copenhagen, Denmark 09/00 Visiting Scholar, Japanese Diabetes Society, Tokyo, Japan 09/00 Invited Seminar, Kyoto, Japan 09/00 Invited Seminar, Kobe, Japan 09/00 Invited Seminar, Miyobashi, Japan 11/00 Invited Speaker, Genetics of Complex Disorders, Telethon Italy, Rimini, Italy 07/01 Invited Speaker, Australian Human Genetics Meetings, Cairns, Australia 08/01 Plenary Speaker, International Congress of Schizophrenia Whistler, British Columbia 09/01 Invited Speaker, European Association of Diabetes, Glasgow, Scotland 09/01 Invited Seminar, Section of Endocrinology, Exeter University, Exeter, England 12/01 Invited Speaker, Diabetes Mellitus Meetings, Erice, Italy 12 Curriculum Vitae (cont.) Nancy J. Cox
    • 04/02 Invited Speaker, Anniversary Symposium, Wurzburg, Germany 04/02 Invited Seminar, Department of Statistical Genetics, Bonn, Germany 05/02 Invited Speaker, Asian Pacific Diabetes Congress, Beijing, China 06/02 Invited Speaker, Uehara Symposium, Tokyo, Japan 09/02 Invited Speaker, Diabetes and Cardiovascular Risk Factors-East Meets West Symposium, Hong Kong, China 10/02 Invited Speaker, SNP Meeting, Reykjavik, Iceland 10/02 Invited Seminar, Shanghai, China 02/03 Invited Speaker, Genomics Bonn, Bonn, Germany 03/03 Invited Speaker, Servier-IGES Symposia, Cap St. Jean Ferrat, France 04/03 Invited Speaker, Ankylosing Spondilitis Consortium Meeting, Oxford, England 08/03 Invited Speaker, IDF-GD Congress, Lille, France 05/04 Invited Speaker, European Consortium for Type 1 Diabetes, Barcelona, Spain 11/04 Invited Speaker, Samsung International Symposium, Seoul, South Korea 09/05 Invited Speaker, SNP2005 Meeting, Leicestershire, England 09/06 Invited Speaker, 1st Nordic Meeting on Genetics and Pathogenesis of Immunological Diseases, Helsinki, Finland 12/06 Invited Speaker, University of Toronto, Toronto, CA 09/07 Organizer and speaker, Human Genome Variation meeting, Barcelona, Spain 09/07 Invited Speaker, Pharmacogenetics Meeting, Costa Rica 02/08 Invited Speaker, Phamacogenetics Symposium, Tokyo, Japan 04/08 Invited Speaker, Statistical Genetics for Complex Diseases Symposium, Malmo, Sweden Domestic 12/97 Invited Speaker, Genetic Architecture of Complex Disorders, Baltimore, MD 06/98 Invited Speaker, American Diabetes Association Meetings, Chicago, IL 07/98 Invited Seminar, Department of Human Genetics, The University of Utah, Salt Lake City, UT 10/98 Invited Speaker, 100th Anniversary of the Joslin Diabetes Center, Boston, MA 03/99 Invited Speaker, NIH Workshop Gene-Environment Interaction, Research Triangle Park, North Carolina 04/99 Invited Seminar, Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 10/99 Invited Seminar, Department of Human Genetics, Yale University, New Haven, CT 10/99 Plenary Speaker, World Psychiatric Genetic Congress, Monterey, CA 11/99 Invited Seminar, Oregon Health Sciences Center, Portland, OR 12/99 Invited Seminar, Southwest Foundation for Biomedical Research, San Antonio, TX 04/00 Invited Seminar, Department of Human Genetics, The University Pittsburgh, Pittsburgh, PA 06/00 Invited Speaker, American Diabetes Association Meetings, San Diego, CA 09/00 Invited Speaker, Newton Morton Celebration, St. Louis, MO 11/00 Invited Seminar, Department of Psychiatry, The University of Virginia, Charlotte, Virginia 01/01 Invited Speaker, NIH Conference Diabetes and Depression, Bethesda, MD 06/01 Invited Speaker, Endocrine Society Meetings, Denver, CO 06/01 Invited Seminar, Department of Psychiatry, University of Colorado, Denver, CO 09/01 Invited Speaker, Hypertension Meetings, Chicago, IL 11/01 Invited Seminar, Department of Human Genetics, UCLA, Los Angeles, CA 04/02 Invited Speaker, NHLBI Consortium Studies, Bethesda, MD 06/02 Invited Seminar, Division of Biostatistical Genetics, The University of Alabama, Birmingham, AL 11/02 Invited Seminar, Biology Department, The University of Miami, Oxford, OH 12/02 Invited Seminar, Biostatistics Department, The University of Wisconsin, Wisconsin 04/03 Invited Speaker, NIH celebration of the 50th anniversary of Watson & Crick’s discovery of the structure of the DNA double helix—“From Double Helix to Human Sequence and Beyond!”, Bethesda, MD 13 Curriculum Vitae (cont.) Nancy J. Cox
    • 08/03 Invited Speaker, Gordon Conferences on Human Genetics and Genomics, Colby College-Waterville, Maine 09/03 Invited Speaker, Genome Technology Branch, Bethesda, MD 02/04 Invited Seminar, Dept. of Biology, Oberlin College, Oberlin, OH 03/04 Invited Seminar, University of Arizona, Tuscon, AZ 04/04 Invited Seminar, Dept. of Human Genetics, University of Michigan, Ann Arbor, MI 06/04 Invited Speaker, International Applied Mathematics Society, Nashville, TN 10/04 Invited Speaker, Genetics of Type 2 Diabetes, American Society of Human Genetics Meetings, Toronto, CN 10/04 Invited Speaker, Gene x environment Interaction, American Society of Human Genetics Meetings, Toronto 11/04 Invited Seminar, Dept. of Human Genetics, Emory University, Atlanta, GA 02/05 Invited Speaker, Genetic Epidemiology of Common Diseases: Integrating Genetics, Biology and Medicine, The 2005 meeting of the Genetic Epidemiology Research Institute (GERI), San Diego, CA 03/05 Invited Speaker, State of the Science in Stuttering Workshop, Washington, D.C. 05/05 Invited Seminar, Wake Forest University 06/05 Invited Speaker, American Diabetes Association Meetings, San Diego, CA 09/05 Invited Scholar, Mayo Clinic, Rochester, Minnesota 10/05 Invited Speaker, World Congress on Genetics of Schizophrenia, Boston, MA 11/05 Invited Speaker, NHGRI retreat, Gettysburg, PA 11/05 Invited Speaker, Grand Rounds, Endocrine Section, Northwestern University, Chicago, IL 3/06 Invited Speaker, APPA, New York, NY 4/06 Invited Speaker, North Carolina State University, Raleigh Durham, NC 9/06 Invited Speaker, NIMH retreat, Gettysburg, PA 10/06 Invited Speaker, Yale Symposium on Genome-wide Association Studies, New Haven, CT 11/06 Invited Speaker, GAIN meetings, Washington, DC 12/06 Invited Speaker, NCI Wednesday Afternoon Lecture Series 02/07 Invited Speaker, Mesothelioma Pathogenesis meeting, Honolulu, Hawaii 02/07 Invited Speaker, National Association of Allergy meetings, San Diego, CA 03/07 Invited Seminar, University of California San Francisco, San Francisco, Ca 04/07 Invited Seminar, Case Western Reserve University, Cleveland, OH 05/07 Invited Speaker, Carnegie Mellon Symposium on Computational Biology, Pittsburgh, PA 06/07 Invited Speaker, GEI Symposium, Boston, MA 10/07 Invited Speaker, Harvard Genomics Conference, Boston, MA 11/07 Invited Speaker, American Society of Nephrology Meetings, San Francisco, CA 11/07 Invited Seminar, University of Texas Health Sciences Center, Houston, TX 1/08 Invited Speaker, Statistical Genetics in Pharmacogenetics, Memphis, TN 3/08 Invited Seminar, Emory University, Atlanta, GA 14 Curriculum Vitae (cont.) Nancy J. Cox