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10 years of Public Health Genomics at CDC
1997-2007

5.0 Bibliography of OPHG Publications


This section provides a bibliography of publications written by staff in CDC’s Office of Public Health Genomics (OPHG) from 1997 to 2008. Publications are organized by year.

Scientific Articles, Book Chapters, Selected Published Abstracts

1997_______________________________________
  1. Cono J, Qualls N, Khoury MJ, Hannon WH, Farrell P. Newborn screening for cystic fibrosis: a paradigm for public health genetics policy development. MMWR 1997;46(RR 16): 1-22.
  2. Freeman SB, Yang QH, Khoury MJ, Sherman SL. A significant association between maternal smoking and trisomy 21 is restricted to maternal meiosis II nondysjunction. Presented at the American Society of Human Genetics meeting, Baltimore, October 1997 and published in Am J Hum Genet 1997;61:A51.
  3. Gardiner GB, Khoury MJ, Williams RR, Johnson CL, Carroll MD. Familial hypercholesterolemia (FH) diagnostic criteria: application to the 1988-94 National Health and Nutritional Examination Survey (NHANES) III data. Am J Hum Genet 1997;61:A385.
  4. Khoury MJ, Yang QH. The future of genetic studies of complex human diseases: an epidemiologic perspective. Presented at the annual International Genetic Epidemiology Society meeting, Baltimore, October 1997, and published in Genet Epidemiol 1997;14:531-2.
  5. Khoury MJ. Newborn screening for cystic fibrosis: a paradigm for public health genetics policy development. Presented at the Annual Cystic Fibrosis Conference, Nashville, Oct 1997 and published in Ped Pulmonol 1997 (supl 14):194.
  6. Khoury MJ. The interface between medical genetics and public health: changing the paradigm of disease prevention and the definition of a genetic disease. Am J Med Genet 1997;71:289-91.
  7. Khoury MJ. Genetic epidemiology and the future of disease prevention and public health. Epidemiol Rev 1997;19:175-80.
  8. O’Leary LA, Khoury MJ, FitzSimmons SC. Impact of growth parameters in the first year of life on long term pulmonary function in children with cystic fibrosis: implications for early intervention. Presented at the American Society of Human Genetics meeting, Baltimore, October 1997 and published in Am J Hum Genet 1997;61:A109.
  9. Roberts HE, Moore CA, Fernhoff PM, Brown AL, Khoury MJ. Population study of congenital hypothyroidism and associated birth defects. Am J Med Genet 1997;71:29-32.
  10. Siulc ES, Khoury MJ, Dorman JS. Educational opportunities in genetic epidemiology and molecular epidemiology: a survey of available training. Presented at Society for Epidemiologic Research, Edmonton, June 1997 and published in the Am J Epidemiol 1997;145:S9.
  11. Sun F, Yang Q, Khoury MJ. TDT and other association tests: an epidemiological view. Presented at the annual International Genetic Epidemiology Society meeting, Baltimore, October 1997, and published in Genet Epidemiol 1997;14:540.
  12. Yang QH, Khoury MJ, Flanders WD. Sample size requirements in case-only designs to detect gene-environment interaction. Am J Epidemiol 1997;146:713-20.
  13. Yang Q, Khoury MJ, Mannino D. Trends and patterns of mortality associated with birth defects and genetic diseases associated mortality in the United States, 1979-1992: an analysis of multiple-cause mortality data. Genet Epidemiol 1997;14:493-506.
  14. Yang QH, Khoury MJ. Evolving methods in genetic epidemiology: III. Gene-environment interaction in epidemiologic research. Epidemiol Rev 1997;19:33-43.
  15. Yang Q, Atkinson M, Sun F, Sherman S, Khoury MJ. The method of sib-pair linkage analysis in the context of case-control design. Genet Epidemiol 1997;14:939-44.
  16. Yang QH, Khoury MJ, Flanders WD. Sample size requirements in case only designs to detect gene-environment interactions. Presented at Society for Epidemiologic Research, Edmonton, June 1997 and published in the Am J Epidemiol 1997;145:S56.
  17. Yang QH, McDonnell S, Khoury MJ, Cono J, Parrish RG. Hemochromatosis associated mortality in the United States, 1978-1992: an analysis of multiple-cause mortality data. Presented at the American Society of Human Genetics meeting, Baltimore, October 1997 and published in Am J Hum Genet 1997;61:A216.
  18. Yoon PW, Olney RS, Khoury MJ, Sappenfield WM, Chavez GF, Taylor D. Contribution of birth defects and genetic diseases to pediatric hospitalizations: a population-based study. Arch Ped & Adolesc Med 1997;151:1096-103.
1998__________________________________________________________
  1. Burke W, Thomson E, Khoury MJ, McDonnell SM, Press N, Adams PC, Barton JC, et al. Hereditary hemochromatosis: gene discovery and its implications for population-based screening. JAMA 1998;280:172-8.
  2. Cogswell ME, McDonnell SM, Khoury MJ, Franks AL, Burke W, Brittenham G. Iron overload, public health and genetics: evaluating the evidence for hemochromatosis screening. Ann Intern Med 1998;129:971-9.
  3. CDC Task force on Genetics and Disease Prevention. Translating advances in human genetics into public health action” a strategic plan, CDC, Atlanta, Georgia, 1997.
  4. Holtzman NA, Watson MS (eds) and the Task Force on Genetic Testing. Promoting safe and effective genetic testing in the United States 1998. Johns Hopkins University Press, 1998.
  5. Khoury MJ. (editorial) Genetic and epidemiologic approaches to the search for gene-environment interaction: the case of osteoporosis. Am J Epidemiol 1998;147:1-2.
  6. Khoury MJ. Genetic Epidemiology. In Rothman K. Modern Epidemiology, 2nd edition 1998.
  7. Khoury MJ, Yang QH. The future of genetic studies of complex human disorders: an epidemiologic perspective. Epidemiology 1998; 9:350-4.
  8. Khoury MJ, Dorman JS. The Human Genome Epidemiology Network. Am J Epidemiol 1998;148:1-3.
  9. Khoury MJ, Puryear M, Thomson E, Bryan J. First annual conference on genetics and public health: translating advances in human genetics into disease prevention and health promotion. Community Genet 1998;1:93-108.
  10. Khoury MJ. Challenges and opportunities: a framework for the role of genetics in public health. Presented at the first annual meeting on genetics and public health, Atlanta, GA, 5/1998 and published in Community Genet 1998;1:95.
  11. Khoury MJ. The Human Genome Epidemiology Network (HuGENet). Presented at the first annual meeting on genetics and public health, Atlanta, GA, 5/1998 and published in Community Genet 1998;1:100-1.
  12. O’Leary L, Khoury MJ. Impact of the human genome project on epidemiologic research. Presented at the Society for Epidemiologic Research meeting, Chicago, 6/1998 and published in the Am J Epidemiol 1998;147:S32.
  13. Steinberg KK, Pernarelli J, Marcus M, Khoury MJ, Schildkraut J, Marchbanks P. Increased risk of familial ovarian cancer among Jewish women: a population-based case-control study. Genet Epidemiol 1998;15:51-9.
  14. Sun FZ, Flanders WD, Yang QH, Khoury MJ. A new method for estimating the risk ratio in studies using case-parental control design. Am J Epidemol 1998;148:902-9.
  15. Yang QH, McDonnell S, Khoury MJ, Trends in reported hereditary hemochromatosis mortality in the United States, 1979 92. Ann Intern Med 1998;129:946-53.
  16. Yang QH, Khoury MJ, Rodriguez C, Calle EE, Tatham LM, Flanders WD, Family history score as a predictor of breast cancer mortality: prospective data from the cancer prevention study II, United States, 1982-1991. Am J Epidemiol 1998;147:652-9.
  17. Yang QH, Freeman S, Khoury MJ, Moore C, Erickson JD, Sherman SL. Maternal oral contraceptive use and the risk for maternally derived trisomy 21, by the meiotic stage of chromosome error: a population-based study. Presented at the Teratology meeting, San Diego, June, 1998 and published in Teratology 1998;57:196.
1999__________________________________________________________
  1. Coughlin SS, Khoury MJ, Steinberg KK. BRCA1 and BRCA2 gene mutations and risk of breast cancer: public health perspectives. Am J Prev Med 1999;16:1-8.
  2. Botto LD, Moore CA, Khoury MJ, Erickson JD. Medical progress: Neural tube defects. New Engl J Med 1999;341:1509-19.
  3. Gettig E, Baker T, Khoury MJ et al. Report on the Second National Conference on Genetics and Public Health. Community Genet 1999;2:119-36.
  4. Khoury MJ. Human Genome Epidemiology (HuGE): Translating advances in human genetics into population-based data for medicine and public health. Genet Med 1999;1:71-4.
  5. Khoury MJ. Genetics from a Public Health Perspective. Presented at the second national conference on genetics and public health, Baltimore, 12/99, and published in Community Genet 1999;2:119-36.
  6. Sun F, W. Flanders WD, Yang Q, Khoury MJ. Transmission disequilibrium test (TDT) when only one parent is available: The 1 TDT. Am J Epidemiol 1999;150:97-104.
  7. Sun F, Cheng R, Flanders WD, Yang Q, Khoury MJ. Whole genome associations studies in genes affecting alcohol dependence. Genet Epidemiol 1999; 17 (suppl 1): S337-42.
  8. Sun FZ, Flanders WD, Yang GH, Zhao HY, Khoury MJ. Testing for gene-environment interaction using affected sib-pairs. American Society for Human Genetics, San Francisco, Oct 1999, and published in the Am J Hum Genet 1999;65:A15.
  9. Wang SS, Fernhoff PM, Hannon WH, Khoury MJ. Medium chain acyl coA dehydrogenase deficiency (MCADD): a HuGE review. Genet Med 1999;1:332-9.
  10. Wang SS, Khoury MJ. An epidemiologic assessment of the relationship between the G985A medicum chain acyl-coA dehydrogenase deficiency (MCADD) allelic variant and sudden infant death syndrome. Presented at the American College of Medical Genetics annual meeting, Miami, 3/1999 and published in Genet Med 1999;1:43.
  11. Wang SS, FitzSimmons S, Khoury MJ. Does newborn screening for cystic fibrosis reduce the risk of pseudomonas aeruginosa colonization among cystic fibrosis patients in the United States? Presented at the Society for Epidemiologic Research annual meeting, Baltimore, 6/99 and published in Am J Epidemiol 1999;149:S76.
  12. Wang SS, Fridinger F, Sheedy KM, Linman H, Khoury MJ. Public attitudes regarding the donation and storage of blood specimens for genetic research. American Society for Human Genetics, San Francisco, Oct 1999, and published in the Am J Hum Genet 1999;65:A411.
  13. Yang Q, Khoury MJ, Sun F and Flanders WD. Case-only design to measure gene-gene interaction. Epidemiology 1999;10:167-70.
  14. Yang Q, Khoury MJ, Atkinson M, Sun F, Cheng R, Flanders WD. Using case-control designs for genomewide screening for associations between genetic markers and disease susceptibility loci. Genet Epidemiol 1999 (suppl 1): S779-84.
  15. Yang QH, Khoury MJ, Coughlin SS, Sun FZ, Flanders WD. On the use of population-based registries in the clinical validation of genetic testing for disease susceptibility. American Society for Human Genetics, San Francisco, Oct 1999, and published in the Am J Hum Genet 1999;65:A90.
2000__________________________________________________________
  1. Austin MA, Peyser PA, Khoury MJ. The interface of genetics and public health: research and educational challenges. Annu Rev Publ Health 2000;21:81-99.
  2. Bai Y, Sherman S, Khoury MJ, Flanders WD. Bias associated with study protocols in epidemiologic studies of disease familial aggregation. Am J Epidemiol 2000;151:927-37.
  3. Beaty TH, Khoury MJ. The interface of genetics and epidemiology. Epidemiol Reviews 2000;22:120-5.
  4. Brown A, Wang SS, Gwinn ML, Khoury MJ. Public attitudes about the importance of genetic factors in determining heath. Presented at the Annual Society for Human Genetics, Philadelphia, October 2000, and published in Am J Hum Genet 2000;67 S:206.
  5. Burke W, Imperatore G, McDonnell, SM, Baron RC, Khoury MJ. Contribution of different HFE genotypes to iron overload diseases: a pooled analysis. Genet Med 2000;2:271-277.
  6. Cragan JD, Khoury MJ. Effect of prenatal diagnosis on epidemiologic studies of birth defects. Epidemiology 2000;11:695-699.
  7. Khoury MJ, Little J. Human genome epidemiologic reviews: the beginning of something HuGE. Am J Epidemiol 2000;151:2-3.
  8. Khoury MJ. Genetic susceptibility to birth defects in humans: from gene discovery to public health action. Teratology 2000;61:17-20.
  9. Khoury MJ. Will genetics revolutionize medicine? New Engl J Med (letter) 2000;343:1497.
  10. Khoury MJ, Thrasher JF, Burke W, Gettig EA, Fridinger F, Jackson R. Challenges in communicating genetics: a public health approach. Genet Med 2000;2:198-202.
  11. Khoury MJ. Genetics and Public Health in the 21st Century: A scientific foundation for using genetic information to improve health and prevent disease. Presented at the annual meeting of the American College of Medical Genetics, Palm Springs, California, March, 2000 and published in Genet Med 2000;2:59.
  12. Wang SS, Khoury MJ. An epidemiologic assessment of the relationship between the G985A medium chain acyl-coA dehydrogenase deficiency (MCADD) allelic variant and sudden infant death syndrome. Pediatrics 2000;105:1175-6.
  13. Wang SS, Olney R, Harris K, Pass K, Lorey F, Choi R, et al. Newborn screening for sickle cell disease: assessing program effectiveness. Presented at the annual meeting of the American College of Medical Genetics, Palm Springs, California, March, 2000 and published in Genet Med 2000;2:67.
  14. Wang SS, Fernhoff PM, Grinzaid K, Ramchandran M, Franko EA, Henson M, et al. Evaluating data systems from newborn screening programs, Georgia, 1998. Presented at the annual meeting of the American College of Medical Genetics, Palm Springs, California, March, 2000 and published in Genet Med 2000;2:99.
2001__________________________________________________________
  1. Ashley-Koch A, Murphy CC, Khoury MJ, Boyle CA. Contribution of sickle cell disease to the occurrence of developmental disabilities: a population-based study. Genet Med 2001; 3:181-6.
  2. Beskow L, Khoury MJ, Baker T, Thrasher J. The integration of genetics into public health research, policy and practice: a blueprint for action. Community Genet 2001;4:2-11.
  3. Beskow LM, Burke W, Merz JF, Barr PA, Terry S, Penchaszadeh VB, et al. Informed consent for population-based research involving genetics. JAMA 2001;286:2315-21.
  4. Botto LD, Khoury MJ. Facing the challenge of gene-environment interaction: the two-by-four table and beyond. Am J Epidemiol 2001;153:1016-20.
  5. Brown AS, Gwinn ML, Cogswell ME, Khoury MJ, Hemochromatosis-associated morbidity in the United States: an analysis of the National Hospital Discharge Survey, 1979-1997, Genet Med 2001;3:109-11.
  6. Burke W, Coughlin SS, Lee NC, Weed DL, Khoury MJ. Application of population screening principles to genetic screening for adult-onset conditions. Genet Test 2001;5:201-11.
  7. Grosse SD, Morris J, Khoury MJ. Disease-related conditions in relatives of patients with hemochromatosis (letter). New Engl J Med 2001;344:1477.
  8. Grosse SD, Khoury MJ, Hannon HW, Boyle CA. Early diagnosis of cystic fibrosis (letter). Pediatrics 2001;107:1492.
  9. Khoury MJ, Little J. Guidelines for submitting human genome epidemiology (HuGE) reviews to Teratology. Teratology 2001;63:62-4.
  10. Khoury MJ, Beskow L, Gwinn ML. Translation of genomic research into health care (letter), JAMA 2001;285:2447-8.
  11. Piper MA, Lindenmayer JM, Lengerich EJ, Pass KA, Brown W, Crowder WA, et al. The role of state public health agencies in genetics and disease prevention: results of a national survey. Public Health Rep 2001;116:22-31.
  12. Steinberg KK, Cogswell ME, Change JC, Caudill SP, McQuillan GM, Bowman BA, et al. Prevalence of C282Y and H63D mutations in the hemochromatosis gene in the United States. JAMA 2001;285:2216-22.
  13. Steinberg KK, Gwinn M,Khoury MJ. The role of genomics in public health and disease prevention. JAMA 2001;286:1635.
  14. Wang SS, FitzSimmons S, O’Leary LA, Rock MJ, Gwinn ML, Khoury MJ. Early diagnosis of cystic fibrosis in the newborn period and risk of P. aerugeninosa acquisition in the first ten years of life: a registry-based longitudinal study. Pediatrics 2001;107:274-9.
  15. Wang SS, Fridinger F, Sheedy KM, Khoury MJ. Public attitudes regarding the donation and storage of blood specimens for genetic research. Community Genet 2001;4:18-26.
  16. Yoon PW, Chen B, Faucett A, Clyne M, Gwinn ML, Lubin IM, et al. The public health impact of genetic tests at the end of the 20th century. Genet Med 2001;3:406-10.
  17. Yoon PW, Chen B, Faucett A, Clyne M, Gwinn ML, Lubin JW, et al. Public health assessment of genetic tests used in clinical medicine. Presented at the annual meeting of the American College of Medical Genetics, Miami, March 2001 and published in Genet Med 2001;3:242.
2002__________________________________________________________
  1. Gwinn ML, Khoury MJ. Research priorities for public health sciences in the post genome era. Genet Med 2002;4:410-11.
  2. Kalman LV, Lindegren ML, Kobrynski LJ, Buckley R, Khoury MJ. Framework for assessing impact and identifying public health interventions for severe combined immunodeficiency. Presented at the American Society for Human Genetics, Baltimore, MD, and published in Am J Hum Genet 2002;71(suppl):376.
  3. Khoury MJ. Epidemiology and the continuum from genetic research to genetic testing. Am J Epidemiol 2002;156:297-9.
  4. Khoury MJ, Thrasher JF, Burke W, Gettig EA, Fridinger F, Jackson R. Challenges in communicating genetics: a public health approach. In Gostin LO, editor. Public Health Law and Ethics: a Reader. Berkeley (CA): University of California Press; 2002. p. 475-479.
  5. Lin BK, Clyne M, Tonkin J, Khoury MJ. Tracking the epidemiology of human genes in the literature. Presented at the Society for Epidemiologic Research annual meeting, Palm Dessert, CA, June 2002 and published in Am J Epidemiol 2002;155:S68.
  6. Little J, Bradley L, Bray MS, Clyne M, Dorman J, Ellsworth DL, et al. Reporting, appraising and integrating data on genotype prevalence and gene-disease associations. Am J Epidemiol 2002;156:300-10.
  7. Malarcher A, Giles W, Khoury MJ. Helping high risk families: medical and public health approaches. Genet Med 2002;4:239-40.
  8. Steinberg KK, Beck J, Nickerson D, Garcia-Closas M, Gallagher M, Caggana M, et al. DNA Banking for Epidemiologic studies: a review of current practices. Epidemiology 2002;13:246-54.
  9. Yoon PW, Scheuner MT, Peterson-Oehlke KL, Gwinn ML, Faucett A, Khoury MJ. Can family history be used as a tool for public health and preventive medicine? Genet Med 2002;4:304-10.
  10. Wang SS, O’Leary LA, FitzSimmons SC, Khoury MJ. The impact of early cystic fibrosis diagnosis on pulmonary function in children. J Pediatr 2002;141:804-10.
2003__________________________________________________________
  1. Cogswell M, Gallagher ML, Steinberg KK, Caudill SP, Looker AC, Bowman BA, et al. The HFE genotype and transferin saturation in the United States. Genet Med 2003;5:304-10.
  2. Haddow JE, Palomaki GE: ACCE: A model process for evaluating data on emerging genetic tests. In: Khoury M, Little J, Burke W, eds. Human Genome Epidemiology: A Scientific Foundation for Using Genetic Information to Improve Health and Prevent Disease. Oxford University Press; 2003. p. 217-233.
  3. Haga SB, Khoury MJ, Burke W. Genomic profiling to promote a healthy lifestyle: not ready for prime time. Nat Genet 2003;34:347-50.
  4. Hunt SC, Gwinn M, Adams TD. Family history assessment : strategies for prevention of cardiovascular disease. Am J Prev Med 2003;24:136-42.
  5. Kelada SN, Eaton DL, Wang SS, Rothman NR, Khoury MJ. The role of genetic polymorphisms in environmental health. Environ Health Perspect 2003;111:1055-64.
  6. Khoury MJ, McCabe L, McCabe ERL. Population screening in the age of genomic medicine. New Engl J Med 2003;348:50-8.
  7. Khoury MJ. Genetics and genomics in practice: the continuum from genetic disease to genetic information in health and disease. Genet Med 2003;5:261-8.
  8. Little J, Khoury MJ. Mendelian randomization: a new spin or real progress Lancet 2003;362:930-931.
  9. Little JM, Gwinn M, Khoury MJ. Synergistic polymorphisms of ß1- and 2C-adrenergic receptors and the risk of congestive heart failure (letter to the editor), New Engl J Med, 2003;348:468-70.
  10. Little J, Khoury MJ, Bradley L, Clyne M, Gwinn M, Lin B, et al. The human genome project is complete. How do we develop a handle for the pump? Am J Epidemiol 2003;157:667-73.
  11. Morris J, Gwinn, M, Clyne M, Khoury MJ. Public knowledge regarding the role of genetic susceptibility to environmentally induced health conditions. Comm Genetics 2003;6:22-8.
  12. Palomaki GE, Bradley LA, Richards CS, Haddow JE. Analytic validity of cystic fibrosis testing: a preliminary estimate. Genet Med 2003;5(1):15-20.
  13. Palomaki GE, Haddow JE, Bradley LA, Richards CS, Stenzel TT, Grody WW. Estimated analytic validity of HFE C282Y mutation testing in population screening: the potential value of confirmatory testing. Genet Med 2003;5(6):440-3.
  14. Scheuner MT, Yoon PW, Khoury MJ. Contribution of Mendelian disorders to common chronic disease: opportunities for recognition, intervention and prevention. Am J Med Genet 2004;125C:50-65.
  15. Yang Q, Khoury MJ, Friedman JM, Flander WD. On the use of population attributable fraction to determine sample size for case-control studies of gene-environment interaction. Epidemiology 2003;14:161-7.
  16. Yang Q, Khoury MJ, Botto L, Friedman JM, Flanders WD. Improving the prediction of complex diseases by testing for multiple disease susceptibility genes. Am J Hum Genet 2003;72:636-49.
  17. Yoon PW, Scheuner MT, Khoury MJ. Research priorities for evaluating family history in the prevention of common chronic diseases. Am J Prev Med 2003;24:128-35.
2004__________________________________________________________
  1. Khoury MJ, Millikan R, Little J, Gwinn ML. The emergence of epidemiology in the genomics age. Int J Epidemiol 2004;33:936-44.
  2. Khoury MJ. The case for a global human genome epidemiology initiative. Nat Genet 2004;36:1027-8.
  3. Khoury MJ, Yang Q, Gwinn M, Little J, Flanders WD. An epidemiologic assessment of genomic profiling for measuring susceptibility to common diseases and targeting interventions. Genet Med 2004;6:38-47.
  4. Lindegren ML, Kobrynski L, Rasmussen SA, Moore CA, Grosse SD, Vanderford ML, et al. Applying public health strategies to primary immunodeficiency disorders: a model approach to genetic disorders. MMWR 2004 (RR01);53:1-29.
  5. McCusker M, Yoon P, Gwinn M, Malarcher AM, Neff L, Khoury MJ. Family history of heart disease and cardiovascular disease risk-reducing behaviors. Genet Med 2004;6:153-8.
  6. Scheuner MT, Yoon P, Khoury MJ. Collection of family history in epidemiologic studies of coronary artery disease: can we do better? Genet Med 2004;6:341.
  7. Scheuner MT, Yoon P, Khoury MJ. Use of family history to identify adults at increased risk for chromic diseases and mendelian disorders. Genet Med 2004;6:385.
  8. Scheuner MT, Yoon PW, Khoury MJ. Contribution of Mendelian disorders to common chronic disease: opportunities for recognition, intervention, and prevention. Am J Med Genet 2004;125C:50-65.
  9. Yang Q, Khoury MJ, Botto L, Friedman JM, Flanders WD. Revisiting the clinical validity of multiplex genetic testing in complex diseases: reply to Janssens et al. Am J Hum Genet 2004 Mar;74(3):588-9.
  10. Yang Q, Khoury MJ, Friedman JM, Flanders WD. How many genes does it take to make an appreciable population attributable fraction of a common disease? Presented at the Society for Epidemiologic Research, Salt Lake City, Utah, June 2004 and published in Am J Epidemiol 2004;159:S61.
  11. Yoon, PW, Scheuner MT, Gwinn M, Khoury MJ, Jorgensen C, Hariri S, et al. Awareness of family health history as a risk factor for disease, United States, 2004. MMWR 2004; 53:1044-7.
  12. Yoon P, Scheuner MT, Khoury MJ. Research agenda for family history tools: analytic validity, clinical validity, clinical utility and ethical, legal and social implications. Genet Med 2004;6:386.
2005__________________________________________________________
  1. Davis RL, Khoury MJ. The journey to personalized medicine. Personalized Med 2005;2:1-4.
  2. Flanders WD, Khoury MJ, Yang QH, Austin H. Tests of Trait - Haplotype association when linkage phase is ambiguous, appropriate for matched case-control and cohort studies with competing risks. Stat Med 2005;24:2219-316.
  3. Ioannidis JPA, Bernstein J, Boffetta P, Caporaso N, Danesh J, Edler D, et al. A network of investigator networks in human genome epidemiology. Am J Epidemiol 2005; 162:302-4.
  4. Khoury MJ, Davis RL, Gwinn M, Lindegren ML, Yoon PW. Response to letter to the editor by Morabia and Constantin on article: “Do we need genomic research for the prevention of common diseases with environmental causes?” Am J Epidemiol 2005;161:799-805.
  5. Khoury MJ, Mensah GA. Genomics and the prevention and control of common chronic diseases: emerging priorities for public health action. Prevent Chron Dis 2005. Available from URL: http://www.cdc.gov/pcd/issues/2005/apr/05_0011.htm.
  6. Khoury MJ. The integration of genomics into pediatric and perinatal epidemiology: call for human genome epidemiology reviews. Pediat Perinat Epidemiol 2005;19:178-80.
  7. Khoury MJ, Davis RL, Gwinn M, Lindegren ML, Yoon PW. Do we need genomic research for the prevention of common diseases with environmental causes? Am J Epidemiol 2005;161:799-805.
  8. Khoury MJ. Genomics and public health: When can we use genome-based knowledge for population health benefits? Issues in Sci Technology 2005;21(4):15-16.
  9. Little J, Sharp L, Khoury MJ, Bradley L, Gwinn ML. The epidemiologic approach to pharmacogenomics. Am J Pharmacogenomic 2005;5:1-20.
  10. Moore CA, Bradley L, Khoury MJ. From genetics to genomics: using gene-based medicine to prevent disease and promote health in children. Semin Perinatol 2005;29:135-43.
  11. Ramsey SD, Burke W, Pinsky L, Clarke L, Khoury MJ. Family history assessment to detect increased risk for colorectal cancer: conceptual considerations and a preliminary economic analysis. Cancer Epidem Biomar 2005:14:2494-500.
  12. Yang Q, Khoury MJ, Friedman JM, Little J, Flanders WD. How many genes are needed to explain the occurrence of common complex diseases in the population? Int J Epidemiol 2005;34:1129-34.
2006__________________________________________________________
  1. Brand A, Brand H, Khoury MJ, Schröder P , Zimmern R. Public health genomics in Europe (editorial). Italian J Public Health 2006;3:5-7.
  2. Burke W, Khoury MJ, Stewart A, Zimmern R and the Bellagio Working Group. The path from genome-based research to population health: development of an international public health genomics network. Genet Med 2006;8:451-8.
  3. Davis RL, Khoury MJ. A public health approach to pharmacogenomics and gene-based tests. Am J Pharmacogenomic 2006;7:331-7.
  4. Grosse SD, Khoury MJ. What is the clinical utility of genetic testing? Genet Med 2006;8:448-50.
  5. Grosse SD, Boyle C, Kenneson A, Khoury MJ, Wilfond B. From public health emergency to public health service: The implications of evolving criteria for newborn screening panels. Pediatrics 2006;117:923-9.
  6. Grosse SD, Khoury MJ, Greene CL, Krider KS, Pollitt RJ. The epidemiology of medium chain Acyl-CoA Dehydrogenase Deficiency (MCADD): an update. Genet Med 2006;8:205-12.
  7. Gwinn ML, Khoury MJ. Genomics and public health in the United States: signposts on the translation highway. Comm Genet 2006;9:21-26.
  8. Gwinn ML, Khoury MJ. Expanded publishing model for genetic association studies. Cancer Epi Biom Prev 2006;15:185.
  9. Gwinn M, Bowen S, Khoury MJ. Genomics and public health: tools for the 21st century. MMWR 2006;55 (suppl 2):20-1.
  10. Hariri S, Valdez R, Moonesinghe R, Khoury MJ. Evaluation of family history as a risk factor and screening tool for detecting undiagnosed diabetes in a nationally representative survey population. Genet Med 2006;8:752-9.
  11. Hariri S, Yoon PW, Qureshi N, Scheuner M, Khoury MJ. Family history of type 2 diabetes: a population-based screening tool for prevention? Genet Med 2006;8:102-8.
  12. Trikalinos TA, Salanti G, Khoury MJ, Ioannidis JP. Impact of violations and deviations in Hardy-Weinberg equilibrium on postulated gene-disease associations. Am J Epidemiol 2006;163:300-9.
  13. Ioannidis JPA, Gwinn M, Little J, Higgins JPT, Bernstein JL, Boffetta P, et al. and the Human Genome Epidemiology Network. A road map for efficient and reliable human genome epidemiology. Nat Genet 2006;38:3-5.
  14. Janssens AJW, Gwinn M, Valdez R, Venkat Narayan RM, and Khoury MJ. Predictive genetic testing for type 2 diabetes may raise unrealistic expectations. Brit Med J 2006;333:509-10.
  15. Janssens CJW, Gwinn M, Iyer SS, Khoury MJ. Does genetic testing really improve the prediction of type 2 diabetes? PLOS Medicine 2006;3:e114.
  16. Jannssens ACJW, Khoury MJ. Predictive value of testing for multiple genetic variants in multifactorial diseases: implications for the discourse on ethical, legal and social issues. Italian J Public Health 2006;3:35-41.
  17. Khoury MJ, Gwinn M, Little J, Ioannidis JP. On the interpretation and synthesis of consistent but weak genetic association in the era of genome-wide association studies. Int J Epidemiol 2006 (epub).
  18. Khoury MJ, Romero R. The integration of genomics into obstetrics and gynecology: a HuGE challenge. Am J Obstet Gynecol 2006;195:1503-5.
  19. Khoury MJ, Gwinn M. Genomics, epidemiology and common complex diseases: let’s not throw out the baby with the bathwater. Int J Epidemiol 2006; 35:1363-4.
  20. Khoury MJ, Jones K, Grosse SD. Assessing health benefits of genetic tests: the importance of a population perspective. Genet Med 2006;8:191-5.
  21. Khoury MJ, Gwinn M. What role for genetics in public health and vice versa? (letter to the editor) Community Genet 2006;9:282.
  22. Lin BK, Clyne M, Walsh M, Gomez O, Yu W, Gwinn M, et al. Tracking the epidemiology of human genes in the literature: the HuGE published literature database. Am J Epidemiol 2006;164:1-4.
  23. Olney RS, Moore CA, Ojodu JA, Lindegren ML, Hannon WH. Storage and use of residual dried blood spots from state newborn screening programs. J Pediatr 2006 May;148(5):618-22.
  24. Ramsey SD, Yoon PA, Moonesinghe R, Khoury MJ. Population-based study of the prevalence of family history of cancer: implications for cancer screening and prevention. Genet Med 2006;8:571-5.
  25. Scheuner MT, Whitworth WC, McGruder H, Yoon PW, Khoury MJ. Expanding the definition of positive family history for early-onset coronary heart disease. Genet Med 2006;8:491-501.
  26. Scheuner MT, Whitworth WC, McGruder H, Yoon PW, Khoury MJ. Familial risk assessment for early-onset coronary heart disease. Genet Med 2006;8:525-31.
  27. Yang Q, Khoury MJ, Friedman JM, Little J, Flanders WD. How many genes underlie the occurrence of common complex diseases in the population? Authors response to a refinement to “how many genes underlie the occurrence of common complex diseases in the population?..” by R Monnesinghe. Int J Epidemiol 2006;35:498.
  28. Yoon PW. Risk prediction for common diseases. Louisiana Law Review Dec 2005:66 (special issue):33-41.
2007__________________________________________________________
  1. Davis RL, Khoury MJ. The emergence of biobanks: practical design considerations for large population-based studies of gene-environment interactions. Comm Genet 2007 (in press).
  2. El-Serag H, Khoury MJ, Lewis JD. HuGE reviews and meta-analysis of gene association studies. Gastroenterology 2007;132:839-40.
  3. Goddard KAB, Moore C, Ottmann D, Szegda KL, Bradley L, Khoury MJ. Awareness and use of direct-to-consumer nutrigenomic tests, United States, 2006. Genet Med. 2007 Aug;9(8):510-7.
  4. Gwinn M, Khoury MJ. Dermatology and the human genome: and epidemiologic approach. Arch Dermatology 2007 (in press).
  5. Hariri S, Myers MF, Yoon PW. Attitudes, knowledge, and behaviors regarding genetic testing among women who do and do not meet the USPSTF guidelines for genetic testing for breast and ovarian cancer susceptibility. Submitted Genet Med.
  6. Janssens ACJW, Moonesinghe R, Yang, Q, Steyerberg EW, van Dujin CM, Khoury MJ. The impact of genotype frequencies on the clinical predictive value of genomic profiling for susceptibility to common complex diseases. Genet Med 2007 (in press).
  7. Khoury MJ, Millikan R, Gwinn ML. Genetic and molecular epidemiology. Chapter In Rothman KJ et al. (eds). Modern Epidemiol, third edition, 2007 (in press).
  8. Khoury MJ, Gwinn M, Bowen MS. Genomics and public health research. (letter to the editor) JAMA. 2007 June;297(21):2347.
  9. Khoury MJ, Gwinn M, Burke W, Bowen MS, Zimmern RL. Will Genomics Widen or Heal the Schism Between Medicine and Public Health? AJPM. 2007 Oct;33(4):310-7.
  10. Khoury MJ, Gwinn M, Yoon PW, Dowling N, Bradley L. The continuum of translation research in genomic medicine: how can we accelerate the appropriate integration of human genome discoveries into health care and disease prevention? Genet in Med (in press).
  11. Khoury MJ, Little J, Higgins J, Ioannidis JP, Gwinn M. The need for high quality systematic reviews and meta analyses of genetic associations. (letter to the editor) PLoS Medicine 2007 (April 16).
  12. Khoury MJ, Little J, Higgins J, Ioannidis JP, Gwinn M. Reporting of systematic reviews: the challenge of genetic association studies. PLoS Med 2007 Jun 26;4(6):e211.
  13. Moonesinghe R, Khoury MJ, Jansenns AJW. Most published research findings are false - but a little replication goes a long way. PLoS Medicine 2007 Feb;4(2):e28:218-20.
  14. Rebbeck TR, Khoury MJ, Potter JD. Genetic association studies of cancer: where do we go from here? CEBP 2007;16:864-5.
  15. Seminara D, Khoury MJ, O’Brien T, et al. The emergence of networks in human genome epidemiology: challenges and opportunities. Epidemiology 2007;18:1-8.
  16. Valdez R, Greenlund KJ, Khoury MJ, Yoon PW. Is family history a useful tool to detect children at risk for chronic disease and to enrich prevention campaigns aimed at the pediatric population. Pediatrics 2007 (in press).
  17. Valdez R, Yoon P, Liu K, Khoury MJ. Family history and prevalence of diabetes in the U.S. population: 6-year results from the National Health and Nutrition Examination Survey (NHANES 1999-2004). Diabetes Care 2007 (in press).
  18. Yoon PW, Jorgensen C, Scheuner MT, Khoury MJ. Family HealthwareTM: a family history screening tool for the prevention of common chronic diseases. In clearance - Preventing Chronic Disease.
  19. Yu W, Yesupriya A, Wulf A, Qu J, Gwinn M, Khoury MJ. An automatic method to generate domain-specific investigator networks using PubMed abstracts. BMC Med Inform Decis Mak 2007 Jun 20;7(1):17.
2008__________________________________________________________
  1. Gwinn M, Khoury MJ. Principles of human genome epidemiology. In: Willard H, Ginsburg G, eds. Handbook of Genomic Medicine New York: ELSEVIER (in press).
  2. Scheuner MT and Yoon PW. The use of family history in clinical medicine and public health. In: Willard H, Ginsburg G, eds. Handbook of Genomic Medicine New York: ELSEVIER (in press).
  3. Khoury MJ, Gwinn M. Why do we need public health in the era of genomic medicine? In: Willard H, Ginsburg G, eds. Handbook of Genomic Medicine New York: ELSEVIER (in press).
  4. Ntzani EE, Khoury MJ, Ioannidis JPA. Combining molecular and genetic data from different sources. Chapter in IARC Molecular Epidemiology Monograph 2008 (in press).

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Books

  1. Khoury MJ, Burke W, Thomspon E, eds. Genetics and Public Health in the 21st Century: Using Genetic Information to Improve Health and Prevent Disease. Oxford University Press, News York, 2000.
  2. Khoury MJ, Little J., Burke W, eds. Human Genome Epidemiology: A Scientific Foundation for Using Genetic Information to Improve Health and Prevent Disease. Oxford University Press, 2004.

Annual Reports

  1. Gwinn M, Bedrosian S, Ottman D, Khoury MJ, eds. Genomics and population health: United States, 2003. Centers for Disease Control and Prevention, Atlanta, Georgia, 2004. Available from URL: http://www.cdc.gov/genomics/activities/ogdp/2003.htm.
  2. Gwinn M, Bedrosian S, Ottman D, Khoury MJ, eds. Genomics and population health: 2005. Centers for Disease Control and Prevention, Atlanta, Georgia, 2005. Available from URL: http://www.cdc.gov/genomics/activities/ogdp/2005.htm.

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