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Genomic Resources

Publications 1997-2009

 

2009

  1. Bellcross CA, Lemke AA, Pape LS, Tess AL, Meisner LT. Evaluation of a breast/ovarian cancer genetics referral screening tool in a mammography population. Genet Med. 2009 Nov;11(11):783-9.
  2. Berg AO, Armstrong K, Botkin J, Calonge N, Haddow J, Hayes M, Kaye C, Phillips KA, Piper M, Richards CS, Scott JA, Strickland OL, Teutsch S. Recommendations from the EGAPP™ Working Group: can UGT1A1 genotyping reduce morbidity and mortality in patients with metastatic colorectal cancer treated with irinotecan? Genet Med. 2009 Jan;11(1):15-20.
  3. Berg AO, Armstrong K, Botkin J, Calonge N, Haddow J, Hayes M, Kaye C, Phillips KA, Piper M, Richards CS, Scott JA, Strickland OL, Teutsch S. Recommendations from the EGAPP™ Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genet Med. 2009 Jan;11(1):35-41.
  4. Berg AO, Armstrong K, Botkin J, Calonge N, Haddow J, Hayes M, Kaye C, Phillips KA, Piper M, Richards CS, Scott JA, Strickland OL, Teutsch S. Recommendations from the EGAPP™ Working Group: can tumor gene expression profiling improve outcomes in patients with breast cancer? Genet Med. 2009 Jan;11(1):66-73.
  5. Burton PR, Hansell AL, Fortier I, Manolio TA, Khoury MJ, Little J, Elliott P. Size matters: just how big is BIG?: Quantifying realistic sample size requirements for human genome epidemiology. Int J Epidemiol.2009 Feb;38(1):263-73.
  6. Chang MH, Lindegren ML, Butler MA, Chanock SJ, Dowling NF, Gallagher M, Moonesinghe R, Moore CA, Ned RM, Reichler MR, Sanders CL, Welch R, Yesupriya A, Khoury MJ; CDC/NCI NHANES III Genomics Working Group. Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.  Am J Epidemiol. 2009 Jan 1;169(1):54-66. Epub 2008 Oct 20.
  7. Dowling N, Gwinn M, Mawie, A. Human genomics and preparedness for infectious threats. Genome Medicine2009 Dec. 29; 1(12):119.
  8. Goddard KA, Duquette D, Zlot A, Johnson J, Annis-Emeott A, Lee PW, Bland MP, Edwards KL, Oehlke K, Giles RT, Rafferty A, Cook ML, Khoury MJ. Public awareness and use of direct-to-consumer genetic tests: results from 3 state population-based surveys, 2006. Am J Public Health. 2009 Mar;99(3):442-5. Epub 2008 Dec 23.
  9. Goddard KA, Robitaille J, Dowling NF, Parrado AR, Fishman J, Bradley LA, Moore CA, Khoury MJ. Health-related direct-to-consumer genetic tests: a public health assessment and analysis of practices related to Internet-based tests for risk of thrombosis. Public Health Genomics. 2009;12(2):92-104. Epub 2008 Nov 26.
  10. Grosse SD, McBride CM, Evans JP, Khoury MJ. Personal utility and genomic information: Look before you leap Genet Med. 2009 Aug;11(8):575-576.
  11. Guessous I, Gwinn M, Khoury MJ., Genome-wide association studies in pharmacogenomics: untapped potential for translation. Genome Med. 2009 Apr 28;1(4):46.
  12. Guessous I, Gwinn M, Yu W, Yeh J, Clyne M, Khoury MJ. Trends in pharmacogenomic epidemiology: 2001-2007. Public Health Genomics. 2009;12(3):142-8. Epub 2009 Feb 10.
  13. Gwinn M, Guessous I, Khoury MJ.  Invited commentary: genes, environment, and hybrid vigor. Am J Epidemiol. 2009 Sep 15;170(6):703-7. Epub 2009 Aug 11.
  14. Gwinn M, Khoury MJ. Principles of human genome epidemiology. Book chapter in: Genomic and Personalized Medicine (2009).
  15. Janssens AC, González-Zuloeta Ladd AM, López-Léon S, Ioannidis JP, Oostra BA, Khoury MJ, van Duijn CM. An empirical comparison of meta-analyses of published gene-disease associations versus consortium analyses. Genet Med. 2009 Mar;11(3):153-62.
  16. Khoury MJ, Bertram L, Boffetta P, Butterworth AS, Chanock SJ, Dolan SM, Fortier I, Garcia-Closas M, Gwinn M, Higgins JP, Janssens AC, Ostell J, Owen RP, Pagon RA, Rebbeck TR, Rothman N, Bernstein JL, Burton PR, Campbell H, Chockalingam A, Furberg H, Little J, O'Brien TR, Seminara D, Vineis P, Winn DM, Yu W, Ioannidis JP. Genome-Wide Association Studies, Field Synopses, and the Development of the Knowledge Base on Genetic Variation and Human Diseases. Am J Epidemiol. 2009 Aug 1;170(3):269-79. Epub 2009 Jun 4.
  17. Khoury MJ, Bowen S, Bradley LA, Coates RJ, Dowling NF, Gwinn M, Kolor K, Moore CA, St Pierre J, Valdez R, Yoon PW. A decade of public health genomics in the United States: Centers for Disease Control and Prevention 1997-2007. Pub Health Genomics 2009;12:20-29.
  18. Khoury MJ, Feero WG, Reyes M, Citrin T, Freedman A, Leonard D, Burke W, Coates R, Croyle R, Edwards K, Kardia S, McBride C, Manolio T, Randhawa G, Rasooly R, St Pierre J, Terry S; GAPPNet™ Planning Group. The Genomic Applications in Practice and Prevention Network. Genet Med. 2009 Jul;11(7):488-94.
  19. Khoury MJ, Gwinn M. Why do we need public health in the era of genomic medicine? Book chapter. Genomic and Personalized Medicine (2009).
  20. Khoury MJ, McBride CM, Schully SD, Ioannidis JP, Feero WG, Janssens AC, Gwinn M, Simons-Morton DG, Bernhardt JM, Cargill M, Chanock SJ, Church GM, Coates RJ, Collins FS, Croyle RT, Davis BR, Downing GJ, Duross A, Friedman S, Gail MH, Ginsburg GS, Green RC, Greene MH, Greenland P, Gulcher JR, Hsu A, Hudson KL, Kardia SL, Kimmel PL, Lauer MS, Miller AM, Offit K, Ransohoff DF, Roberts JS, Rasooly RS, Stefansson K, Terry SF, Teutsch SM, Trepanier A, Wanke KL, Witte JS, Xu J. The Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop. Genet Med. 2009 Aug;11(8):559-67.
  21. Khoury MJ, Rich EC, Randhawa G, Teutsch SM, Niederhuber J. Comparative effectiveness research and genomic medicine: An evolving partnership for 21st century medicine. Genet Med. 2009 Sep 11.
  22. Khoury MJ, Wacholder S. Invited commentary: from genome-wide association studies to gene-environment-wide interaction studies--challenges and opportunities. Am J Epidemiol. 2009 Jan 15;169(2):227-30; discussion 234-5. Epub 2008 Nov 20.
  23. Kim C, Liu T, Valdez R, Beckles GL. Does frank diabetes in first-degree relatives of a pregnant woman affect the likelihood of her developing gestational diabetes mellitus or nongestational diabetes? Am J Obstet Gynecol. 2009 Dec;201(6):576.e1-6. Epub 2009 Aug 18.
  24. Kolor K, Liu T, St. Pierre J, Khoury MJ. Health care provider and consumer awareness, perceptions, and use of direct-to-consumer personal genomic tests, United States, 2008. Letter to the Editor in Genet Med. 2009 Aug;11(8): 595.
  25. Krieg EF Jr, Butler MA, Chang MH, Liu T, Yesupriya A, Lindegren ML, Dowling N; for the CDC/NCI NHANES III Genomics Working Group. Lead and cognitive function in ALAD genotypes in the third National Health and Nutrition Examination Survey. Neurotoxicol Teratol. 2009 Nov-Dec;31(6):364-71. Epub 2009 Aug 15.
  26. Little J, Higgins JP, Ioannidis JP, Moher D, Gagnon F, von Elm E, Khoury MJ, Cohen B, Davey-Smith G, Grimshaw J, Scheet P, Gwinn M, Williamson RE, Zou GY, Hutchings K, Johnson CY, Tait V, Wiens M, Golding J, van Duijn C, McLaughlin J, Paterson A, Wells G, Fortier I, Freedman M, Zecevic M, King R, Infante-Rivard C, Stewart A, Birkett N. STrengthening the REporting of Genetic Association Studies (STREGA)--an extension of the STROBE statement. Genet Epidemiol. 2009 Nov;33(7):581-98.
  27. Little J, Higgins JP, Ioannidis JP, Moher D, Gagnon F, von Elm E, Khoury MJ, Cohen B, Davey-Smith G, Grimshaw J, Scheet P, Gwinn M, Williamson RE, Zou GY, Hutchings K, Johnson CY, Tait V, Wiens M, Golding J, van Duijn C, McLaughlin J, Paterson A, Wells G, Fortier I, Freedman M, Zecevic M, King R, Infante-Rivard C, Stewart AF, Birkett N.  STrengthening the REporting of genetic association studies (STREGA): an extension of the strengthening the reporting of observational studies in epidemiology (STROBE) statement.  J Clin Epidemiol. 2009 Jun;62(6):597-608.e4. Epub 2009 Feb 12.
  28. Little J, Higgins JP, Ioannidis JP, Moher D, Gagnon F, von Elm E, Khoury MJ, Cohen B, Davey-Smith G, Grimshaw J, Scheet P, Gwinn M, Williamson RE, Zou GY, Hutchings K, Johnson CY, Tait V, Wiens M, Golding J, van Duijn C, McLaughlin J, Paterson A, Wells G, Fortier I, Freedman M, Zecevic M, King R, Infante-Rivard C, Stewart A, Birkett N.  STrengthening the REporting of Genetic Association Studies (STREGA): an extension of the STROBE statement. PLoS Med. 2009 Feb 3;6(2):e22.
  29. Little J, Higgins JP, Ioannidis JP, Moher D, Gagnon F, von Elm E, Khoury MJ, Cohen B, Davey-Smith G, Grimshaw J, Scheet P, Gwinn M, Williamson RE, Zou GY, Hutchings K, Johnson CY, Tait V, Wiens M, Golding J, van Duijn C, McLaughlin J, Paterson A, Wells G, Fortier I, Freedman M, Zecevic M, King R, Infante-Rivard C, Stewart A, Birkett N.  STrengthening the REporting of Genetic Association studies (STREGA): an extension of the STROBE Statement. Ann Intern Med. 2009 Feb 3;150(3):206-15.
  30. Little J, Higgins JP, Ioannidis JP, Moher D, Gagnon F, von Elm E, Khoury MJ, Cohen B, Davey-Smith G, Grimshaw J, Scheet P, Gwinn M, Williamson RE, Zou GY, Hutchings K, Johnson CY, Tait V, Wiens M, Golding J, van Duijn C, McLaughlin J, Paterson A, Wells G, Fortier I, Freedman M, Zecevic M, King R, Infante-Rivard C, Stewart A, Birkett N.  Strengthening the reporting of genetic association studies (STREGA): an extension of the STROBE statement. Eur J Epidemiol. 2009;24(1):37-55. Epub 2009 Feb 3.
  31. Little J, Higgins JP, Ioannidis JP, Moher D, Gagnon F, von Elm E, Khoury MJ, Cohen B, Davey-Smith G, Grimshaw J, Scheet P, Gwinn M, Williamson RE, Zou GY, Hutchings K, Johnson CY, Tait V, Wiens M, Golding J, van Duijn C, McLaughlin J, Paterson A, Wells G, Fortier I, Freedman M, Zecevic M, King R, Infante-Rivard C, Stewart A, Birkett N.  Strengthening the reporting of genetic association studies (STREGA): an extension of the STROBE Statement. Hum Genet. 2009 Mar;125(2):131-51. Epub 2009 Feb 1.
  32. Little J, Higgins JP, Ioannidis JP, Moher D, Gagnon F, von Elm E, Khoury MJ, Cohen B, Davey-Smith G, Grimshaw J, Scheet P, Gwinn M, Williamson RE, Zou GY, Hutchings K, Johnson CY, Tait V, Wiens M, Golding J, van Duijn C, McLaughlin J, Paterson A, Wells G, Fortier I, Freedman M, Zecevic M, King R, Infante-Rivard C, Stewart A, Birkett N. STrengthening the REporting of Genetic Association studies (STREGA)--an extension of the STROBE statement. Eur J Clin Invest. 2009 Apr;39(4):247-66.
  33. Liu T, Valdez R, Yoon PW, Crocker D, Moonesinghe R, Khoury MJ. The association between family history of asthma and the prevalence of asthma among US adults: National Health and Nutrition Examination Survey, 1999 – 2004. Genet Med 2009:11(5):323–328.
  34. Mvundura M, McGruder H, Khoury MJ, Valdez R, Yoon PW. Family History as a Risk Factor for Early-Onset Stroke/Transient Ischemic Attack among Adults in the United States. Public Health Genomics. 2009 Mar 23. [Epub ahead of print]
  35. O'Neill SM, Rubinstein WS, Wang C, Yoon PW, Acheson LS, Rothrock N, Starzyk EJ, Beaumont JL, Galliher JM, Ruffin MT 4th; Familial risk for common diseases in primary care: the Family Healthware Impact Trial. Family Healthware Impact Trial group. Am J Prev Med. 2009 Jun;36(6):506-14.
  36. Palomaki GE, McClain MR, Melillo S, Hampel HL, Thibodeau SN. EGAPP™ supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome. Genet Med. 2009 Jan;11(1):42-65.
  37. Palomaki GE, Bradley LA, Douglas MP, Kolor K, Dotson WD. Can UGT1A1 genotyping reduce morbidity and mortality in patients with metastatic colorectal cancer treated with irinotecan? An evidence-based review. Genet Med. 2009 Jan;11(1):21-34.
  38. Robitaille J, Hamner HC, Cogswell ME, Yang Q. Does the MTHFR 677C-->T variant affect the Recommended Dietary Allowance for folate in the US population? Am J Clin Nutr. 2009 Apr;89(4):1269-73.
  39. Rogowski WH, Grosse SD, Khoury MJ. Challenges of translating genetic tests into clinical and public health practice. Nat Rev Genet. 2009 Jul;10(7):489-95.
  40. Scheuner MT and Yoon PW. The use of family history in clinical medicine and public health. In: Genomic and Personalized Medicine. Willard H, Ginsburg G, eds. New York: ELSEVIER (2009).
  41. Teutsch SM, Bradley LA, Palomaki GE, Haddow JE, Piper M, Calonge N, Dotson WD, Douglas MP, Berg AO, Chair, on behalf of the EGAPP™ Working Group. The Evaluation of Genomic Applications in Practice and Prevention (EGAPP™) initiative: methods of the EGAPP™ Working Group. Genet Med. 2009 Jan;11(1):3-14.
  42. Valdez R. Detecting Undiagnosed Type 2 Diabetes: Family History as a Risk Factor and Screening Tool[PDF 282 KB]. J Diabetes Sci Technol. 2009 Jul; 3(4):722-26.
  43. Wang C, O'Neill SM, Rothrock N, Gramling R, Sen A, Acheson LS, Rubinstein WS, Nease DE Jr, Ruffin MT 4th; Comparison of risk perceptions and beliefs across common chronic diseases. Family Healthware Impact Trial (FHITr) group. Prev Med. 2009 Feb;48(2):197-202. Epub 2008 Nov 25.
  44. Wideroff L, Phillips KA, Randhawa G, Ambs A, Armstrong K, Bennett CL, Brown ML, Donaldson MS, Follen M, Goldie SJ, Hiatt RA, Khoury MJ, Lewis G, McLeod HL, Piper M, Powell I, Schrag D, Schulman KA, Scott J. A health services research agenda for cellular, molecular and genomic technologies in cancer care. Public Health Genomics. 2009;12(4):233-44. Epub 2009 Feb 20.
  45. Yang Q, Flanders WD, Moonesinghe R, Ioannidis JP, Guessous I, Khoury MJ.  Using Lifetime Risk Estimates in Personal Genomic Profiles: Estimation of Uncertainty.  Am J Hum Genet. 2009 Dec;85(6):786-800.
  46. Yesupriya A, Gwinn M, Khoury MJ. Comment: Building a knowledge base on genetic variation and cancer risk through field synopses. J Natl Cancer Inst. 2009 Jan 7;101(1):4-5. Epub 2008 Dec 30.
  47. Yoon PW, Scheuner MT, Jorgensen C, Khoury MJ. Developing Family Healthware, a family history screening tool to prevent common chronic diseases. Prev Chronic Dis. 2009 Jan;6(1):A33. Epub 2008 Dec 15.
  48. Yu W, Ned R, Wulf A, Liu T, Khoury MJ, Gwinn M. The need for genetic variant naming standards in published abstracts of human genetic association studies. BMC Res Notes. 2009 Apr 14; 2:56.
  49. Zhang L, Katz JM, Gwinn M, Dowling NF, Khoury MJ. Systems-based candidate genes for human response to influenza infection. Infect Genet Evol. 2009 Dec;9(6):1148-57. Epub 2009 Jul 30.
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    2008

  51. Agurs-Collins T, Khoury MJ, Simon-Morton D, Olster DH, Harris JR, Milner JA. Public health genomics: translating obesity genomics research into population health benefits. Obesity (Silver Spring). 2008 Dec;16 Suppl 3:S85-94.
  52. Allen NC, Bagade S, McQueen MB, Ioannidis JP, Kavvoura FK, Khoury MJ, Tanzi RE, Bertram L. Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database. Nat Genet. 2008 Jul;40(7):827-34.
  53. Baron RC, Rimer BK, Breslow RA, Coates, RJ, Kerner J, Melillo S, Habarta N, Kalra GP, Chattopadhyay S, Wilson KM, Lee NC, Mullen PD, Coughlin SS, Briss PA, and the Task Force on Community Preventive Services. Client-Directed Interventions to Increase community demand for breast, cervical, and colorectal cancer screening a systematic review. Am J Prev Med. 2008 Jul;35(1 Suppl):S34-55.
  54. Baron RC, Rimer BK, Coates RJ, Kerner J, Kalra GP, Melillo S, Habarta N, Wilson KM, Chattopadhyay S, Leeks K, and the Task Force on Community Preventive Services. Client-Directed Interventions to Increase Community Access to Breast, Cervical, and colorectal cancer screening a systematic review. Am J Prev Med. 2008 Jul;35(1 Suppl):S56-66.
  55. Baron RC, Rimer BK, Coates, RJ, Kerner J, Mullen PD, Chattopadhyay S, Briss PA, and the Task Force on Community Preventive Services. Methods for conducting systematic reviews of evidence on effectiveness and economic efficiency of interventions to increase screening for breast, cervical, and colorectal cancers. Am J Prev Med. 2008 Jul;35(1 Suppl):S26-33.
  56. Breslow RA, Rimer BK, Baron RC, Coates RJ, Kerner J, Wilson KM, Lee NC, Mullen PD, Coughlin SS, and Briss PA. Introducing the Community Guide’s Reviews of Evidence on Interventions to Increase Screening for Breast, Cervical, and Colorectal Cancers. Am J Prev Med. 2008;35(1S).
  57. Coates RJ, Khoury MJ, Gwinn M. (editorial) Five Genetic Variants Associated with Prostate Cancer. N Engl J Med 2008;358(25):2738.
  58. Coates RJ, Kolor K, Stewart SL, Richardson LC. Diagnostic markers for ovarian cancer screening: not ready for routine clinical use. Letter. Clin Cancer Res 2008;14(22) 7575-6.
  59. Gwinn M, Guessous I, Khoury M. Intention to analyze in pharmacogenomics studies. Cancer Epidemiol Biomarkers Prev. 2008 Mar;17(3):740; author reply 740-1. No abstract available.
  60. Hunter D, Khoury MJ, Drazen JM. Letting the genome out of the bottle - will we get our wish? N Engl J Med 2008;358(2):105-7.
  61. Ioannidis JP, Boffetta P, Little J, O'Brien TR, Uitterlinden AG, Vineis P, Balding DJ, Chokkalingam A, Dolan SM, Flanders WD, Higgins JP, McCarthy MI, McDermott DH, Page GP, Rebbeck TR, Seminara D, Khoury MJ. Assessment of cumulative evidence on genetic associations: interim guidelines. Int J Epidemiol. 2008 Feb;37(1):120-32.
  62. Janssens AC, Gwinn M, Bradley LA, Oostra BA, van Duijn CM, Khoury MJ. A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalize health interventions. Am J Hum Genet. 2008 Mar;82(3):593-9.
  63. Kavvoura FK, McQueen MB, Khoury MJ, Tanzi RE, Bertram L, Ioannidis JP. Evaluation of the potential excess of statistically significant findings in published genetic association studies: application to Alzheimer's disease. Am J Epidemiol. 2008 Oct 15;168(8):855-65.
  64. Khoury MJ, Millikan R, Gwinn ML. Genetic and molecular epidemiology. Chapter In Rothman KJ et al. (eds). Modern Epidemiology, third edition, (2008).
  65. Khoury MJ, Valdez R, Albright A. Public Health Genomics Approach to Type 2 Diabetes. Diabetes 2008 Nov;57(11):2911-2914.
  66. Moonesinghe R, Khoury MJ, Liu T, Ioannidis JPA. Required sample size and non-replicability thresholds for heterogeneous genetic associations. Proceedings of the National Academy of Sciences of the United States of America. January 15, 2008; 105 (2): 617-22.
  67. Moonesinghe R, Yang Q, Khoury MJ. Sample size requirements to detect the effect of a group of genetic variants in case-control studies. Emerg Themes Epidemiol. 2008 Dec 3;5:24.
  68. Ntzani EE, Khoury MJ, Ioannidis JPA. Combining molecular and genetic data from different sources. Chapter in IARC Molecular Epidemiology Monograph (2008).
  69. Robitaille J, Yoon PW, Irizarry-Delacruz M, Liu T, Moore CA, Looker AC, Khoury MJ. Prevalence, Family History, and Prevention of Reported Osteoporosis in U.S. Women. Am J Prev Med. 2008 Jul;35(1):47-54.
  70. Sabatino SA, Habarta N, Baron RC, Coates RJ, Rimer BK, Kerner J, Coughlin SS, Kalra GP, Chattopadhyay S, and the Task Force on Community Preventive Services. Interventions to Increase Recommendation and Delivery of Screening for Breast, Cervical, and Colorectal Cancers by Healthcare Providers Systematic Reviews of Provider Assessment and Feedback and Provider Incentives. Am J Prev Med. 2008;35(1S).
  71. Trivers KF, Shaw KM, Sabatino SA, Shapiro JA, Coates RJ, Trends in Colorectal Cancer Screening Disparities in People Aged 50–64 Years, 2000–2005. Am J Prev Med. 2008;35(3):185–193.
  72. Yang QH, Botto LD, Gallagher M, Friedman JM, Sanders CL, Koontz D, Nikolova S, Erickson JD, Steinberg K. Prevalence and effects of gene-gene and gene-nutrient interactions on serum folate and serum total homocysteine concentrations in the United States: findings from the third National Health and Nutrition Examination Survey DNA Bank. Am J Clin Nutr 2008, 88(1):232-246.
  73. Yesupriya A, Evangelou E, Kavvoura FK, Patsopoulos NA, Clyne M, Walsh MC, Lin BK, Yu W, Gwinn M, Ioannidis JP, Khoury MJ. Reporting of Human Genome Epidemiology (HuGE) association studies: an empirical assessment. BMC Med Res Methodol. 2008 May 20;8(1):31.
  74. Yesupriya A, Yu W, Clyne M, Gwinn M, Khoury MJ. The continued need to synthesize the results of genetic associations across multiple studies. Genet Med. 2008 Aug;10(8):633-5.
  75. Yu W, Clyne M, Dolan SM, Yesupriya A, Wulf A, Liu T, Khoury MJ, Gwinn M. GAPscreener: an automatic tool for screening human genetic association literature in PubMed using the support vector machine technique. BMC Bioinformatics. 2008 Apr 22;9:205.
  76. Yu W, Gwinn M, Clyne M, Yesupriya A, Khoury MJ. A navigator for human genome epidemiology. Nat Genet. 2008 Feb;40(2):124-5.
  77. Yu W, Wulf A, Liu T, Khoury MJ, Gwinn M. Gene Prospector: an evidence gateway for evaluating potential susceptibility genes and interacting risk factors for human diseases. BMC Bioinformatics. 2008 Dec 8; 9:528.
  78. Yu W, Wulf A, Yesupriya A, Clyne M, Khoury MJ, Gwinn M. HuGE Watch: tracking trends and patterns of published studies of genetic association and human genome epidemiology in near-real time. Eur J Hum Genet. 2008 Sep;16(9):1155-8.
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    2007

  80. Austin H, Key N, Benson JM, Lally C, Dowling NF, Whitsett C, Hooper WC.  Sickle-cell trait and the risk of venous thromboembolism among African-Americans.  Blood 2007;110(3):908-12.
  81. Davis RL, Khoury MJ. The emergence of biobanks: practical design considerations for large population-based studies of gene-environment interactions. Comm Genet 2007;10(3):181-5.
  82. De Staercke C, Lally C, Austin H, Winston C, Dowling N, Williams B, Hooper WC.  The lack of association between four point mutations in the promoter region of the toll-like 4 receptor gene and myocardial infarction.  Thrombosis Research 2007; 119(1):105-1.
  83. El-Serag H, Khoury MJ, Lewis JD. HuGE reviews and meta-analysis of gene association studies. Gastroenterology 2007;132:839-840.
  84. Evans J, Khoury MJ. Evidence based medicine meets genomic medicine. Genet Med. 2007 Dec;9(12):799-800.
  85. Goddard KAB, Moore C, Ottman 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.
  86. Ferdinands JM, Mannino DM, Gwinn ML, Bray MS. ADRB2 Arg16Gly polymorphism, lung function, and mortality: results from the Atherosclerosis Risk in Communities study. PLoS One. 2007 Mar 14;2(3):e289.
  87. Gwinn M, Khoury MJ. Dermatology and the human genome: and epidemiologic approach. Arch Dermatology 2007 Sep;143(9):1194-6.
  88. 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 Medic.
  89. Higgins JP, Little J, Ioannidis JP, Bray MS, Manolio TA, Smeeth L, Sterne JA,Anagnostelis B, Butterworth AS, Danesh J, Dezateux C, Gallacher JE, Gwinn M,Lewis SJ, Minelli C, Pharoah PD, Salanti G, Sanderson S, Smith LA, Taioli E, Thompson JR, Thompson SG, Walker N, Zimmern RL, Khoury MJ. Turning the pump handle: evolving methods for integrating the evidence on gene-disease association. Am J Epidemiol. 2007 Oct 15;166(8):863-6. Epub 2007 Sep 5.
  90. Honore, P., Simoes, E. J., Moonesinghe, R., Wang, X., Brown, L. Evaluating the Ecological Association of Casino Industry Economic Development on Community Health Status: A Natural Experiment in the Mississippi Delta Region. J Public Health Manag Pract. 2007 Mar-Apr;13(2):214-22.
  91. Janssens ACJW, Moonesinghe R, Yang, Q, Steyerberg EW, van Dujin CM, Khoury MJ. The impact of genotype frequencies on the clinical validity of genomic profiling for predicting common chronic diseases. Genet Med. 2007 Aug;9(8):528-35.
  92. Khoury MJ, Berg A, Coates R, Evans J, Teutsch S, Bradley LA.  The evidence dilemma in genomic medicine. Health Aff (Millwood). 2008 Nov-Dec;27(6):1600-11.
  93. Khoury MJ, Bradley LA. Why should genomic medicine become more evidence-based? Genomic Med. 2007 1:91-93.
  94. Khoury MJ, Gwinn M, Bowen MS. Genomics and public health research. (letter to the editor) JAMA. 2007 June;297(21):2347.
  95. 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.
  96. Khoury MJ, Little J, Gwinn M, Ioannidis JP. On the synthesis and interpretation of consistent but weak gene-disease associations in the era of genome-wide association studies. Int J Epidemiol. 2007 Apr;36(2):439-45.
  97. Khoury MJ, Gwinn M, Yoon PW, Dowling N, Moore CA, Bradley LA.  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 Med. 2007 Oct;9(10):665-74.
  98. 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.
  99. 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).
  100. 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):e28:218-220.
  101. Rebbeck TR, Khoury MJ, Potter JD. Genetic association studies of cancer: where do we go from here? CEBP. 2007;16:864-865.
  102. 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.
  103. 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 Sep;120 Suppl 2:S78-86.
  104. Valdez R, Yoon PW, Liu T, Khoury MJ. Family history and prevalence of diabetes in the US population: 6-year results from the National Health and Nutrition Examination Survey (NHANES, 1999-2004). Diabetes Care. October 2007; 30 (10):2517-22.
  105. 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.
  106. Yu W, Yesupriya A, Wulf A, Qu J, Khoury MJ, Gwinn M. An open source infrastructure for managing knowledge and finding potential collaborators in a domain-specific subset of PubMed, with an example from human genome epidemiology. BMC Bioinformatics. 2007 Nov 9;8:436.
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    2006

  108. Brand A, Brand H, Khoury MJ,  Schröder P, Zimmern R.  Public health genomics in Europe (editorial). Italian J Public Health 2006;3:5-7.
  109. 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(7):451-458.
  110. Davis RL, Khoury MJ. A public health approach to pharmacogenomics and gene-based tests. Am J Pharmacogenomics 2006;7(3):331-337.
  111. 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(3):923-929.
  112. 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(4):205-212.
  113. Grosse SD, Khoury MJ. What is the clinical utility of genetic testing? Genet Med 2006;8(7):448-450.
  114. Gwinn M, Bowen S, Khoury MJ. Genomics and public health: tools for the 21st century. MMWR 2006;55 (suppl 2):20-21.
  115. Gwinn ML, Khoury MJ. Expanded publishing model for genetic association studies. Cancer Epi Biom Prev 2006;15(1):185.
  116. Gwinn ML, Khoury MJ. Genomics and public health in the United States: signposts on the translation highway. Comm Genet 2006;9(1):21-26.
  117. 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(12):752-759.
  118. 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(2):102-108.
  119. Ioannidis JP, Gwinn M, Little J, Higgins JP, Bernstein JL, Boffetta P, Bondy M, Bray MS, Brenchley PE, Buffler PA, Casas JP, Chokkalingam A, Danesh J, Smith GD, Dolan S, Duncan R, Gruis NA, Hartge P, Hashibe M, Hunter DJ, Jarvelin MR, Malmer B, Maraganore DM, Newton-Bishop JA, O'Brien TR, Petersen G, Riboli E, Salanti G, Seminara D, Smeeth L, Taioli E, Timpson N, Uitterlinden AG, Vineis P, Wareham N, Winn DM, Zimmern R, Khoury MJ; Human Genome Epidemiology Network and the Network of Investigator Networks. A road map for efficient and reliable human genome epidemiology. Nat Genet. 2006 Jan;38(1):3-5.
  120. 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.
  121. Janssens AJW, Gwinn M, Valdez R,  Venkat Narayan RM, and Khoury MJ. Predictive genetic testing for type 2 diabetes may raise unrealistic expectations. British Medical Journal 2006;333(7567):509-510.
  122. Janssens CJW, Gwinn M,  Iyer SS, Khoury MJ. Does genetic testing really improve the prediction of type 2 diabetes? PLOS Medicine 2006;3(2):e114.
  123. Khoury MJ, Gwinn M.  What role for genetics in public health and vice versa? (letter to the editor) Community Genetics 2006;9(4):282.
  124. 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(5):1363-4.
  125. Khoury MJ, Jones K, Grosse SD. Quantifying the health benefits of genetic tests: the importance of a population perspective. Genet Med 2006;8(3):191-195.
  126. Khoury MJ, Romero R. The integration of genomics into obstetrics and gynecology: a HuGE challenge. Am J Obstet Gynecol 2006;195(6):1503-1505.
  127. Lin BK, Clyne M, Walsh M, Gomez O, Yu W, Gwinn M, Khoury MJ. Tracking the epidemiology of human genes in the literature: the HuGE published literature database. Am J Epidemiol 2006;164(1):1-4.
  128. Myers MF, Chang MH, Jorgensen C, Whitworth W, Kassim S, Litch JA, Armstrong L, Bernhardt B, Faucett WA, Irwin D, Mouchawar J, Bradley LA. Genetic testing for susceptibility to breast and ovarian cancer: evaluating the impact of a direct-to-consumer marketing campaign on physicians' knowledge and practices. Genet Med. 2006 Jun;8(6):361-70.
  129. 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.
  130. 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(9):571-5.
  131. Scheuner MT, Whitworth WC, McGruder H, Yoon PW, Khoury MJ. Expanding the definition of positive family history for early-onset coronary heart disease. Genetics in Medicine 2006;8(8):491-501.
  132. Scheuner MT, Whitworth WC, McGruder H, Yoon PW, Khoury MJ. Familial risk assessment for early-onset coronary heart disease. Genetics in Medicine 2006;8(8):525-531.
  133. Smith GD, Gwinn M, Ebrahim S, Palmer LJ, Khoury MJ. Make it HuGE: human genome epidemiology reviews, population health, and the IJE. Int J Epidemiol. 2006 Jun;35(3):507-10. Epub 2006 Apr 17. Review.
  134. Trikalinos T, 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(4):300-309.
  135. Yang Q, Khoury MJ, Friedman JM, Little J, Flanders WD. How many genes underlie the occurrence of common complex diseases in the population? Int J Epidemiol. 2005 Oct;34(5):1129-37.
  136. Yoon PW. Risk prediction for common diseases. Louisiana Law Review Dec 2005:66 (special issue):33-41.
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    2005

  138. Davis RL, Khoury MJ. The journey to personalized medicine. Personalized Med 2005;2:1-4.
  139. 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(15):2219-2316.
  140. Ioannidis JPA, Bernstein J, Boffetta P, Caporaso N, Danesh J, Edler D, Hartge P, Hunter D, Isaacs W, Jarvelin MR, Little J, Lynch H, Maraganore DM,  O’Brien TR, Petersen G, Riboli E,  Seminara D, Taioli E, Uitterlinden AG, Vineis P, Winn DM, Salanti G,  Higgins JP, Khoury MJ. A network of investigator networks in human genome epidemiology. Am J Epidemiol. 2005 Aug 15;162(4):302-4. Epub 2005 Jul 13.
  141. 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(9):799-805.
  142. Khoury MJ, Mensah GA. Genomics and the prevention and control of common chronic diseases: emerging priorities for public health action. Prevent Chron Dis 2005 2(2):A05.
  143. Khoury MJ. The integration of genomics into pediatric and perinatal epidemiology: call for human genome epidemiology reviews. Pediat Perinat Epidemiol 2005;19(3):178-180.
  144. 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(9):799-805.
  145. Khoury MJ. Genomics and public health:  When can we use genome-based knowledge for population health benefits?  Issues in Science & Technology 2005;21(4):15-16.
  146. Little J, Sharp L, Khoury MJ, Bradley L, Gwinn ML. The epidemiologic approach to pharmacogenomics.  Am J Pharmacogenomics 2005;5(1):1-20.
  147. 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(3):135-143.
  148. Ramsey SD, Burke W, Pinsky L, Clarke L, Khoury MJ. Family history screening to detect increased risk for colorectal cancer: conceptual and economic considerations. Cancer Epidemiol Biomarkers Prevention 2005:14(11 Pt 1):2494-2500.
  149. Yang Q, Khoury MJ, Friedman JM, Little J, Flanders WD. How many genes underlie the occurrence of common complex diseases in the population? Int J Epidemiol 2005;34(5):1129-1137.
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    2004

  151. Bradley LA, CDC. Genetic testing for breast and ovarian cancer susceptibility: evaluating direct-to-consumer marketing--Atlanta, Denver, Raleigh-Durham, and Seattle, 2003. Morb Mortal Wkly Rep. 2004 Jul 16;53(27):603-6.
  152. Khoury MJ, Millikan R, Little J, Gwinn ML. The emergence of epidemiology in the genomics age. Int J Epidemiol 2004;33(5):936-944.
  153. Khoury MJ. The case for a global human genome epidemiology initiative. Nat Genet 2004;36(10):1027-1028.
  154. 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(1):38-47. 
  155. Lindegren, ML, Kobrynski, L, Rasmussen, SA, Moore, CA, Grosse, SD, Vanderford, ML, Spira, TJ, McDougal, JS, Vogt, RF, Hannon, WH, Kalman, LV, Chen, B, Mattson, M, Baker, TG, Khoury, MJ. Applying public health strategies to primary immunodeficiency diseases: a potential approach to genetic disorders. MMWR Recomm Rep. 2004 Jan 16;53(RR-1):1-29.
  156. 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(3):153-158.
  157. Scheuner MT, Yoon P, Khoury MJ. Collection of family history in epidemiologic studies. Can we do better? Genet Med 2004;6:341.
  158. Scheuner MT, Yoon P, Khoury MJ. Use of family history to identify adults at increased risk for crhomics diseases and Mendelian disorders. Genet Med 2004;6:385.
  159. 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(1):50-65.
  160. Scheuner MT. Clinical application of genetic risk assessment strategies for coronary artery disease: genotypes, phenotypes, and family history. Prim Care. 2004 Sep;31(3):711-37, xi-xii.
  161. Yang Q, Khoury MJ, Botto L, Friedman JM, Flanders WD. Improving the prediction of complex diseases by testing for multiple disease-susceptibility genes: reply to Janssens et al. Am J Hum Genet. 2004 Mar;74(3):588-9.
  162. 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.
  163. Yoon, PW, Scheuner MT, Gwinn M, Khoury MJ, Jorgensen C, Hariri S, Lyn S.  Awareness of family health history as a risk factor for disease, United States, 2004. MMWR 2004; 53(44):1044-1047.
  164. 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.
  165. Top of Page


     

    2003

  166. Cogswell M, Gallagher ML,  Steinberg KK, Caudill SP, Looker AC, Bowman BA, Gunter EW, Franks, AL, Satten GA, Khoury MJ, Grummer-Strawn LM.  The HFE genotype and transferrin saturation in the United States. Genet Med 2003;5(4):304-310.
  167. Haddow JE, Palomaki GE: ACCE: A model process for evaluating data on emerging genetic tests. In: Human Genome Epidemiology: A Scientific Foundation for Using Genetic Information to Improve Health and Prevent Disease. Khoury M, Little J, Burke W (eds.), Oxford University Press, pp. 217-233, 2003
  168. Haga SB, Khoury MJ, Burke W. Genomic profiling to promote a healthy lifestyle: not ready for prime time. Nat Genet 2003;34(4):347-350.
  169. Hunt SC, Gwinn M, Adams TD. Family history assessment : strategies for prevention of cardiovascular disease. Am J Prev Med 2003;2492):136-142.
  170. Kelada SN, Eaton DL, Wang SS, Rothman NR, Khoury MJ. The role of genetic polymorphisms in environmental health. Environ Health Perspect 2003;111(8):1055-64.
  171. Khoury MJ, McCabe L, McCabe ERL. Population screening in the age of genomic medicine. New Engl J Med 2003;348(1):50-58.
  172. Khoury MJ. Genetics and genomics in practice: the continuum from genetic disease to genetic information in health and disease. Genet Med. 2003 Jul-Aug;5(4):261-8.
  173. Little J, Khoury MJ, Bradley L, Clyne M, Gwinn M, Lin B, Lindegren ML, Yoon P. The human genome project is complete. How do we develop a handle for the pump? Am J Epidemiol 2003;157(8):667-673.
  174. Little J, Khoury MJ. Mendelian randomization: a new spin or real progress. Lancet 2003;362(9388):930-931.
  175. 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;34895):468-470.
  176. Malarcher AM, Giles WH, Khoury MJ. Helping high-risk families: medical and public health approaches. Genet Med. 2002 Jul-Aug;4(4):239-40.
  177. 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(1):22-28.
  178. Palomaki GE, Bradley LA, Richards CS, Haddow JE. Analytic validity of cystic fibrosis testing: a preliminary estimate. Genet Med 2003;5(1):15-20.
  179. 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):440-443.
  180. 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(1):50-65.
  181. Yang Q, Khoury MJ, Botto L, Friedman JM, Flanders D. Improving the Prediction of Complex Diseases by Testing for Multiple Disease-Susceptibility Genes. American Journal of Human Genetics 2003;72(3):636-649.
  182. 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(2):161-167.
  183. 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(2):128-35.
  184. Top of Page


     

    2002

  185. Burke W, Atkins D, Gwinn M, Guttmacher A, Haddow J, Lau J, Palomaki G, Press N, Richards CS, Wideroff L, Wiesner GL. Genetic test evaluation: information needs of clinicians, policy makers, and the public. Am J Epidemiol. 2002 Aug 15;156(4):311-8.
  186. Gwinn ML, Khoury MJ. Research priorities for public health sciences in the post genomic era. Genetics in Medicine 2002;4(6):410-411.
  187. 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.
  188. Khoury MJ. Commentary: epidemiology and the continuum from genetic research to genetic testing.  Am J Epidemiol 2002;156(4):297-299.
  189. Khoury MJ, Thrasher JF, Burke W, Gettig EA, Fridinger F, Jackson R.  Challenges in communicating genetics: a public health approach.In Gostin LO (ed). Public Health Law and Ethics: a Reader. University of California Press, Berkeley, CA 2002;475-479.
  190. Little J, Bradley L,  Bray MS, Clyne M,  Dorman J, Ellsworth DL, Hanson JW, Khoury MJ, et al.  Reporting, appraising and integrating data on genotype prevalence and gene-disease associations. Am J Epidemiol 2002;156(4):300-310.
  191. Malarcher A, Giles W, Khoury MJ. Helping high risk families: medical and public health approaches. Genetics in Medicine 2002;4(4):239-240.
  192. Palomaki GE, Haddow JE, Bradley LA, FitzSimmons SC. Updated assessment of cystic fibrosis mutation frequencies in non-Hispanic Caucasians. Genet Med. 2002 Mar-Apr;4(2):90-4.
  193. Steinberg KK, Beck J, Nickerson D, Garcia-Closas M, Gallagher M, Caggana M, Reid Y, Cosentino M, Ji J, Johnson D, Hayes, RB, Earley M, Lorey F, Hannon H, Khoury, MJ, Sampson E. DNA Banking for Epidemiologic studies: a review of current practices. Epidemiology 2002 May;13(3):246-54.
  194. 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? Genetics in Medicine 2002;4(4):304-310.
  195. Wang SS, O’Leary LA, FitzSimmons SC, Khoury MJ.  The impact of early cystic fibrosis diagnosis on pulmonary function in children.  The Journal of Pediatrics 2002;141(6):804-810.
  196. Top of Page


     

    2001

  197. Ashley-Koch A, Murphy CC, Khoury MJ, Boyle CA. Contribution of sickle cell disease to the occurrence of developmental disabilities: a population-based study. Genetics in Medicine 2001; 3(3):181-186.
  198. Beskow L, Khoury MJ, Baker T, Thrasher J. The Integration of Genomics into Public Health Research, Policy and Practice in the United States. Community Genetics 2001;4(1):2-11.
  199. Beskow LM, Burke W, Merz JF, Barr PA, Terry S, Penchaszadeh VB, Gostin LO, Gwinn M, Khoury MJ. Informed consent for population-based research involving genetics. JAMA 2001;286(18):2315-21.
  200. Botto LD, Khoury MJ. Commentary: facing the challenge of gene-environment interaction: the two-by-four table and beyond. Am J Epidemiol 2001;153(10):1016-1020.
  201. 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. Genetics in Medicine 2001;3(2):109-111.
  202. 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(3):201-11.
  203. Grosse SD, Morris J, Khoury MJ. Disease-related conditions in relatives of patients with hemochromatosis (letter). New Engl J Med 2001;344(19):1477-8.
  204. Grosse SD, Khoury MJ, Hannon HW, Boyle CA. Early diagnosis of cystic fibrosis (letter). Pediatrics 2001;107(6):1492.
  205. Grosse S, Gwinn M.  Assisting States in Assessing Newborn Screening Options. Public Health Reports 2001; 116: 169-172
  206. Kelada SN, Shelton E, Kaufmann RB, Khoury MJ. Delta-aminolevulinic acid dehydratase genotype and lead toxicity: a HuGE review. Am J Epidemiol. 2001 Jul 1;154(1):1-13. Review.
  207. Khoury MJ, Little J. Guidelines for submitting human genome epidemiology (HuGE) reviews to Teratology. Teratology 2001;63:62-64.
  208. Khoury MJ, Beskow L, Gwinn ML. Translation of genomic research into health care (letter), JAMA 2001;285(19):2447-2448.
  209. Piper MA, Lindenmayer JM, Lengerich EJ, Pass KA, Brown W, Crowder WA, Khoury MJ, Baker TG, Puryear MA, Bryan JL. The role of state public health agencies in genetics and disease prevention: results of a national survey. Publ Hlth Rep 2001;116(1):22-31.
  210. Steinberg KK, Cogswell ME, Change JC, Caudill SP, McQuillan GM, Bowman BA, Grummer-Strawn LM, Sampson EJ, Khoury MJ, Gallagher ML. Prevalence of C282Y and H63D mutations in the hemochromatosis gene in the United States. JAMA 2001;285(17):2216-2222.
  211. Steinberg, KK, Gwinn, M.,Khoury MJ. The role of genomics in public health and disease prevention. JAMA 2001;286(13):1635.
  212. 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(2):274-9.
  213. Wang SS, Fridinger F, Sheedy KM, Khoury MJ. Public attitudes regarding the donation and storage of blood specimens for genetic research. Community Genetics 2001;491):18-26.
  214. Yoon PW, Chen B, Faucett A, Clyne M, Gwinn ML, Lubin IM, Burke W, Khoury MJ. Public health impact of genetic tests at the end of the 20th century. Genet Med 2001;3(6):405-10.
  215. Yoon PW, Chen B, Faucett A, Clyne M, Gwinn ML, Lubin JW, Burke W, Khoury MJ. 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 Genetics in Medicine 2001;3:242.
  216. Top of Page


     

    2000

  217. 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.
  218. 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(9):927-37.
  219. Beaty TH, Khoury MJ. The interface of genetics and epidemiology. Epidemiol Reviews 2000;22:120-125.
  220. 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, Phildalephia, October 2000, and published in Am J Hum Genet 2000;67 S:206.
  221. Burke W, Imperatore G, McDonnell, SM, Baron RC, Khoury MJ. Contribution of different HFE genotypes to iron overload diseases: a pooled analysis. Genetics in Medicine 2000;2(5):271-277.
  222. Cragan JD, Khoury MJ. Effect of prenatal diagnosis on epidemiologic studies of birth defects. Epidemiology 2000;11(6):695-699.
  223. Khoury MJ, Little J. Human genome epidemiologic reviews: the beginning of something HuGE. Am J Epidemiol 2000;151(1):2-3.
  224. Khoury MJ. Genetic susceptibility to birth defects in humans: from gene discovery to public health action. Teratology 2000;6191-2):17-20.
  225. Khoury MJ. Will genetics revolutionize medicine? New Engl J Med (letter) 2000;343(20):1497
  226. Khoury MJ, Thrasher JF, Burke W, Gettig EA, Fridinger F, Jackson R.  Challenges in communicating genetics: a public health approach. Genetics in Medicine 2000;2(3):198-202.
  227. 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 Genetics in Medicine 2000;2(1):59-60.
  228. Wang SS, Fernhoff PM, Khoury MJ. Is the G985A allelic variant of medium-chain acyl-CoA dehydrogenase a risk factor for sudden infant death syndrome? A pooled analysis. Pediatrics 2000;105(5):1175-1176.
  229. Wang SS, Olney R, Harris K, Pass K, Lorey F, Choi R, Kling S, Moore C, Khoury MJ. 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 Genetics in Medicine 2000;2:67.
  230. Wang SS, Fernhoff PM, Grinzaid K, Ramchandran M, Franko EA, Henson M, Buehler J, Khoury MJ. 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 Genetics in Medicine 2000;2:99.
  231. Yang Q, Khoury MJ, Coughlin SS, Sun F, Flanders WD. On the use of population-based registries in the clinical validation of genetic tests for disease susceptibility. Genet Med. 2000 May-Jun;2(3):186-92.
  232. Top of Page


     

    1999

  233. 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(2):91-8.
  234. Botto LD, Moore CA, Khoury MJ, Erickson JD. Medical progress: Neural tube defects. New Engl J Med 1999;341(20):1509-1519.
  235. Gettig E, Baker T, Khoury MJ et al. Report on the Second National Conference on Genetics and Public Health [PDF 334.98 KB]. Community Genetics 1999;2:119-136.
  236. Haddow JE, Bradley LA, Palomaki GE, Doherty RA, Bernhardt BA, Brock DJ, Cheuvront B, Cunningham GC, Donnenfeld AE, Erickson JL, Erlich HA, Ferrie RM, FitzSimmons SC, Greene MF, Grody WW, Haddow PK, Harris H, Holmes LB, Howell RR, Katz M, Klinger KW, Kloza EM, LeFevre ML, Little S, Loeben G, McGovern M, Pyeritz RE, Rowley PT, Saiki RK, Short MP, Tabone J, Wald NJ, Wilker NL, Witt DR. Issues in implementing prenatal screening for cystic fibrosis: results of a working conference. Genet Med 1999 Jul-Aug;1(5):193.
  237. Khoury MJ. Human Genome Epidemiology (HuGE): Translating advances in human genetics into population-based data for medicine and public health. Genetics in Medicine 1999;1(3):71-73.
  238. 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 Genetics 1999;2:119-136.
  239. 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(1):97-104.
  240. 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-S342.
  241. 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.
  242. Wang SS, Fernhoff PM, Hannon WH, Khoury MJ. Medium chain acyl coA dehydrogenase deficiency (MCADD): a HuGE review. Genetics in Medicine 1999;1(7):332-339.
  243. 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 Genetics in Medicine 1999;1:43.
  244. 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.
  245. Yang Q, Khoury MJ, Sun F and Flanders WD.  Case Only design to measure Gene Gene Interaction. Epidemiology 1999;10(2):167-170.
  246. 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-S784.
  247. Yang Q, Sherman SL, Hassold TJ, Allran K, Taft L, Pettay D, Khoury MJ, Erickson JD, Freeman SB. Risk factors for trisomy 21: maternal cigarette smoking and oral contraceptive use in a population-based case-control study. Genet Med. 1999 Mar-Apr;1(3):80-8.
  248. Top of Page


     

    1998

  249. Burke W, Thomson E, Khoury MJ, et al. Hereditary hemochromatosis: gene discovery and its implications for population-based screening. JAMA 1998;280:172 178.
  250. Cogswell ME, McDonnell SM, Khoury MJ, Franks AL, Burke W, Brittenham G. Iron overload, public health and genetics: evaluating the evidence for hemochromatosis screening. Annals of Internal Medicine 1998;129:971-9.
  251. CDC Task force on Genetics and Disease Prevention. Translating advances in human genetics into public health action” a strategic plan, CDC, Atlanta, Georgia, 1997
  252. Freeman SB, Taft LF, Dooley KJ, Allran K, Sherman SL, Hassold TJ, Khoury MJ,Saker DM. Population-based study of congenital heart defects in Down syndrome. Am J Med Genet. 1998 Nov 16;80(3):213-7.
  253. 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.
  254. 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.
  255. Khoury MJ. Genetic Epidemiology (chapter). In Rothman K. Modern Epidemiology, 2nd edition 1998.
  256. Khoury MJ, Yang QH. The future of genetic studies of complex human disorders: an epidemiologic perspective. Epidemiology 1998; 9(3):350-354
  257. Khoury MJ, Dorman JS. The Human Genome Epidemiology Network. Am J Epidemiol 1998;148(1):1-3.
  258. 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 [PDF 282 KB]. Community Genetics 1998;1:93-108.
  259. 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 Genetics 1998;1:95.
  260. Khoury MJ. The Human Genome Epidemiology Network (HuGE Net) Presented at the first annual meeting on genetics and public health, Atlanta, GA, 5/1998 and published in Community Genetics 1998;1:100-101.
  261. 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.
  262. Roberts HE, Cragan JD, Cono J, Khoury MJ, Weatherly MR, Moore CA. Increased frequency of cystic fibrosis among infants with jejunoileal atresia. Am J Med Genet. 1998 Aug 6;78(5):446-9.
  263. Steinberg KK, Pernarelli J, Marcus M, Khoury MJ, Marchbanks, P, Schildkraut J. Increased risk of familial ovarian cancer among Jewish women: a population-based case-control study. Genet Epidemiol 1998;15(1):51-59
  264. 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(9):902-909
  265. Yang QH, McDonnell S, Khoury MJ. Hemochromatosis-associated mortality in the United States from 1979 to 1992: an analysis of Multiple-Cause Mortality Data. Annals of Internal Medicine 1998;129(11):946-53.
  266. 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;147:652 659.
  267. Yang QH, Freeman S, Khoury MJ, et al. 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.
  268. Top of Page


     

    1997

  269. Cono J, Qualls N, Khoury MJ, Hannon WH, Farrell P. Newborn screening for cystic fibrosis: a paradigm for public health genetics policy development. MMWR Morb Mortal Wkly Rep. 1997;46(RR-16): 1-24.
  270. 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.
  271. 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.
  272. 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.
  273. Khoury MJ. Relationship 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 (3):289-91.
  274. Khoury MJ. Genetic epidemiology and the future of disease prevention and public health. Epidemiol Rev 1997;19:175-180.
  275. 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.
  276. 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.
  277. 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.
  278. 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.
  279. 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(6):939-944.
  280. Yang QH, Khoury MJ, Flanders WD. Sample size requirements in case-only designs to detect gene-environment interaction. Am J Epidemiol 1997;146(9):713 20.
  281. 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.
  282. Yang QH, Khoury MJ. Evolving methods in genetic epidemiology: III. Gene-environment interaction in epidemiologic research. Epidemiol Rev 1997;19:33-43.
  283. Yoon PW, Olney RS, Khoury MJ, et al. Contribution of birth defects and genetic diseases to pediatric hospitalizations: a population-based study. Arch Ped & Adolesc Med 1997;151:1096-1103.

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