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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1999 Jan;64(1):1–13. doi: 10.1086/302217

1998 ASHG presidential address. Making genomic medicine a reality.

A L Beaudet 1
PMCID: PMC1377695  PMID: 9915936

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Selected References

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  1. Attié T., Pelet A., Edery P., Eng C., Mulligan L. M., Amiel J., Boutrand L., Beldjord C., Nihoul-Fékété C., Munnich A. Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. Hum Mol Genet. 1995 Aug;4(8):1381–1386. doi: 10.1093/hmg/4.8.1381. [DOI] [PubMed] [Google Scholar]
  2. Brown M. S., Goldstein J. L. Heart attacks: gone with the century? Science. 1996 May 3;272(5262):629–629. doi: 10.1126/science.272.5262.629. [DOI] [PubMed] [Google Scholar]
  3. Burke W., Thomson E., Khoury M. J., McDonnell S. M., Press N., Adams P. C., Barton J. C., Beutler E., Brittenham G., Buchanan A. Hereditary hemochromatosis: gene discovery and its implications for population-based screening. JAMA. 1998 Jul 8;280(2):172–178. doi: 10.1001/jama.280.2.172. [DOI] [PubMed] [Google Scholar]
  4. Clark A. G., Weiss K. M., Nickerson D. A., Taylor S. L., Buchanan A., Stengård J., Salomaa V., Vartiainen E., Perola M., Boerwinkle E. Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase. Am J Hum Genet. 1998 Aug;63(2):595–612. doi: 10.1086/301977. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Collins F. S., Guyer M. S., Charkravarti A. Variations on a theme: cataloging human DNA sequence variation. Science. 1997 Nov 28;278(5343):1580–1581. doi: 10.1126/science.278.5343.1580. [DOI] [PubMed] [Google Scholar]
  6. Daly A. K. Molecular basis of polymorphic drug metabolism. J Mol Med (Berl) 1995 Nov;73(11):539–553. doi: 10.1007/BF00195139. [DOI] [PubMed] [Google Scholar]
  7. Deloukas P., Schuler G. D., Gyapay G., Beasley E. M., Soderlund C., Rodriguez-Tomé P., Hui L., Matise T. C., McKusick K. B., Beckmann J. S. A physical map of 30,000 human genes. Science. 1998 Oct 23;282(5389):744–746. doi: 10.1126/science.282.5389.744. [DOI] [PubMed] [Google Scholar]
  8. Dickson D. Panel urges caution on genetic testing for mental disorders. Nature. 1998 Sep 24;395(6700):309–309. doi: 10.1038/26285. [DOI] [PubMed] [Google Scholar]
  9. Doray B., Salomon R., Amiel J., Pelet A., Touraine R., Billaud M., Attié T., Bachy B., Munnich A., Lyonnet S. Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease. Hum Mol Genet. 1998 Sep;7(9):1449–1452. doi: 10.1093/hmg/7.9.1449. [DOI] [PubMed] [Google Scholar]
  10. Dunlop M. G., Farrington S. M., Carothers A. D., Wyllie A. H., Sharp L., Burn J., Liu B., Kinzler K. W., Vogelstein B. Cancer risk associated with germline DNA mismatch repair gene mutations. Hum Mol Genet. 1997 Jan;6(1):105–110. doi: 10.1093/hmg/6.1.105. [DOI] [PubMed] [Google Scholar]
  11. Edery P., Attié T., Amiel J., Pelet A., Eng C., Hofstra R. M., Martelli H., Bidaud C., Munnich A., Lyonnet S. Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet. 1996 Apr;12(4):442–444. doi: 10.1038/ng0496-442. [DOI] [PubMed] [Google Scholar]
  12. Feder J. N., Gnirke A., Thomas W., Tsuchihashi Z., Ruddy D. A., Basava A., Dormishian F., Domingo R., Jr, Ellis M. C., Fullan A. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 1996 Aug;13(4):399–408. doi: 10.1038/ng0896-399. [DOI] [PubMed] [Google Scholar]
  13. Fischel-Ghodsian N., Prezant T. R., Chaltraw W. E., Wendt K. A., Nelson R. A., Arnos K. S., Falk R. E. Mitochondrial gene mutation is a significant predisposing factor in aminoglycoside ototoxicity. Am J Otolaryngol. 1997 May-Jun;18(3):173–178. doi: 10.1016/s0196-0709(97)90078-8. [DOI] [PubMed] [Google Scholar]
  14. Hofstra R. M., Osinga J., Buys C. H. Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype. Eur J Hum Genet. 1997 Jul-Aug;5(4):180–185. [PubMed] [Google Scholar]
  15. Horikawa Y., Iwasaki N., Hara M., Furuta H., Hinokio Y., Cockburn B. N., Lindner T., Yamagata K., Ogata M., Tomonaga O. Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. Nat Genet. 1997 Dec;17(4):384–385. doi: 10.1038/ng1297-384. [DOI] [PubMed] [Google Scholar]
  16. Kuhlbrodt K., Schmidt C., Sock E., Pingault V., Bondurand N., Goossens M., Wegner M. Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patients. J Biol Chem. 1998 Sep 4;273(36):23033–23038. doi: 10.1074/jbc.273.36.23033. [DOI] [PubMed] [Google Scholar]
  17. Laken S. J., Petersen G. M., Gruber S. B., Oddoux C., Ostrer H., Giardiello F. M., Hamilton S. R., Hampel H., Markowitz A., Klimstra D. Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nat Genet. 1997 Sep;17(1):79–83. doi: 10.1038/ng0997-79. [DOI] [PubMed] [Google Scholar]
  18. Lander E. S. The new genomics: global views of biology. Science. 1996 Oct 25;274(5287):536–539. doi: 10.1126/science.274.5287.536. [DOI] [PubMed] [Google Scholar]
  19. Larsson C. Natural history and life expectancy in severe alpha1-antitrypsin deficiency, Pi Z. Acta Med Scand. 1978;204(5):345–351. doi: 10.1111/j.0954-6820.1978.tb08452.x. [DOI] [PubMed] [Google Scholar]
  20. Lifton R. P. Molecular genetics of human blood pressure variation. Science. 1996 May 3;272(5262):676–680. doi: 10.1126/science.272.5262.676. [DOI] [PubMed] [Google Scholar]
  21. Nickerson D. A., Taylor S. L., Weiss K. M., Clark A. G., Hutchinson R. G., Stengård J., Salomaa V., Vartiainen E., Boerwinkle E., Sing C. F. DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene. Nat Genet. 1998 Jul;19(3):233–240. doi: 10.1038/907. [DOI] [PubMed] [Google Scholar]
  22. Ridker P. M., Hennekens C. H., Lindpaintner K., Stampfer M. J., Eisenberg P. R., Miletich J. P. Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. N Engl J Med. 1995 Apr 6;332(14):912–917. doi: 10.1056/NEJM199504063321403. [DOI] [PubMed] [Google Scholar]
  23. Risch N., Merikangas K. The future of genetic studies of complex human diseases. Science. 1996 Sep 13;273(5281):1516–1517. doi: 10.1126/science.273.5281.1516. [DOI] [PubMed] [Google Scholar]
  24. Scriver C. R. On being an individual, or: the man in the red hat. Ciba Found Symp. 1979 Jun 27;(66):377–393. doi: 10.1002/9780470720486.ch16. [DOI] [PubMed] [Google Scholar]
  25. Southern E. M. DNA chips: analysing sequence by hybridization to oligonucleotides on a large scale. Trends Genet. 1996 Mar;12(3):110–115. doi: 10.1016/0168-9525(96)81422-3. [DOI] [PubMed] [Google Scholar]
  26. Sveger T., Piitulainen E., Arborelius M., Jr Clinical features and lung function in 18-year-old adolescents with alpha 1-antitrypsin deficiency. Acta Paediatr. 1995 Jul;84(7):815–816. doi: 10.1111/j.1651-2227.1995.tb13765.x. [DOI] [PubMed] [Google Scholar]
  27. Tanaka H., Moroi K., Iwai J., Takahashi H., Ohnuma N., Hori S., Takimoto M., Nishiyama M., Masaki T., Yanagisawa M. Novel mutations of the endothelin B receptor gene in patients with Hirschsprung's disease and their characterization. J Biol Chem. 1998 May 1;273(18):11378–11383. doi: 10.1074/jbc.273.18.11378. [DOI] [PubMed] [Google Scholar]
  28. Vionnet N., Stoffel M., Takeda J., Yasuda K., Bell G. I., Zouali H., Lesage S., Velho G., Iris F., Passa P. Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus. Nature. 1992 Apr 23;356(6371):721–722. doi: 10.1038/356721a0. [DOI] [PubMed] [Google Scholar]
  29. Witte D. L., Crosby W. H., Edwards C. Q., Fairbanks V. F., Mitros F. A. Practice guideline development task force of the College of American Pathologists. Hereditary hemochromatosis. Clin Chim Acta. 1996 Feb 28;245(2):139–200. doi: 10.1016/0009-8981(95)06212-2. [DOI] [PubMed] [Google Scholar]
  30. Yamagata K., Furuta H., Oda N., Kaisaki P. J., Menzel S., Cox N. J., Fajans S. S., Signorini S., Stoffel M., Bell G. I. Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1) Nature. 1996 Dec 5;384(6608):458–460. doi: 10.1038/384458a0. [DOI] [PubMed] [Google Scholar]
  31. Yamagata K., Oda N., Kaisaki P. J., Menzel S., Furuta H., Vaxillaire M., Southam L., Cox R. D., Lathrop G. M., Boriraj V. V. Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3) Nature. 1996 Dec 5;384(6608):455–458. doi: 10.1038/384455a0. [DOI] [PubMed] [Google Scholar]

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