Display options
Cite
Scott AF, Amberger JS. The genes of OMIM: A legacy of Victor McKusick. Am J Med Genet A. 2021;185(11):3276-3283doi: 10.1002/ajmg.a.62415.
Scott, A. F., & Amberger, J. S. (2021). The genes of OMIM: A legacy of Victor McKusick. American journal of medical genetics. Part A, 185(11), 3276-3283. https://doi.org/10.1002/ajmg.a.62415
Scott, Alan F, and Amberger, Joanna S. "The genes of OMIM: A legacy of Victor McKusick." American journal of medical genetics. Part A vol. 185,11 (2021): 3276-3283. doi: https://doi.org/10.1002/ajmg.a.62415
Scott AF, Amberger JS. The genes of OMIM: A legacy of Victor McKusick. Am J Med Genet A. 2021 Nov;185(11):3276-3283. doi: 10.1002/ajmg.a.62415. Epub 2021 Jul 02. PMID: 34214258.
Copy Download .nbib Format: NLM
Share it on

Am J Med Genet A. 2021 Nov;185(11):3276-3283. doi: 10.1002/ajmg.a.62415. Epub 2021 Jul 02.

The genes of OMIM: A legacy of Victor McKusick.

American journal of medical genetics. Part A

Alan F Scott, Joanna S Amberger

Affiliations

  1. Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

PMID: 34214258 DOI: 10.1002/ajmg.a.62415

[No abstract available.]

References

  1. Altschul, S. F., Gish, W., Miller, W., Myers, E. W., & Lipman, D. J. (1990). Basic local alignment search tool. Journal of Molecular Biology, 215(3), 403-410. https://doi.org/10.1016/S0022-2836(05)80360-2 - PubMed
  2. Amberger, J. S., Bocchini, C. A., Scott, A. F., & Hamosh, A. (2019). OMIM.org: Leveraging knowledge across phenotype-gene relationships. Nucleic Acids Research, 47(D1), D1038-D1043. https://doi.org/10.1093/nar/gky1151 - PubMed
  3. Claussnitzer, M., Cho, J. H., Collins, R., Cox, N. J., Dermitzakis, E. T., Hurles, M. E., Kathiresan, S., Kenny, E. E., Lindgren, C. M., MacArthur, D. G., North, K. N., Plon, S. E., Rehm, H. L., Risch, N., Rotimi, C. N., Shendure, J., Soranzo, N., & McCarthy, M. I. (2020). A brief history of human disease genetics. Nature, 577(7789), 179-189. https://doi.org/10.1038/s41586-019-1879-7 - PubMed
  4. Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., Brown, J. M., Caddle, L. B., Chiani, F., Clary, D., Cleak, J., Daly, M. J., Denegre, J. M., … Murray, S. A. (2016). High-throughput discovery of novel developmental phenotypes. Nature, 537(7621), 508-514. https://doi.org/10.1038/nature19356 - PubMed
  5. Dronamraju, K. R. (2012). Victor McKusick. In K. R. Dronamraju & C. A. Francomano (Eds.), Victor McKusick and the history of medical genetics (pp. 1-14). Springer. - PubMed
  6. Kelly, T. J., Jr., & Smith, H. O. (1970). A restriction enzyme from Hemophilus influenza: II. Base sequence of the recognition site. Journal of Molecular Biology, 51(2), 393-409. https://doi.org/10.1016/0022-2836(70)90150-6 - PubMed
  7. Kim, M. S., Pinto, S. M., Getnet, D., Nirujogi, R. S., Manda, S. S., Chaerkady, R., Madugundu, A. K., Kelkar, D. S., Isserlin, R., Jain, S., Thomas, J. K., Muthusamy, B., Leal-Rojas, P., Kumar, P., Sahasrabuddhe, N. A., Balakrishnan, L., Advani, J., George, B., Renuse, S., … Pandey, A. (2014). A draft map of the human proteome. Nature, 509(7502), 575-581. https://doi.org/10.1038/nature13302 - PubMed
  8. Lee, C. M., Barber, G. P., Casper, J., Clawson, H., Diekhans, M., Gonzalez, J. N., Hinrichs, A. S., Lee, B. T., Nassar, L. R., Powell, C. C., Raney, B. J., Rosenbloom, K. R., Schmelter, D., Speir, M. L., Zweig, A. S., Haussler, D., Haeussler, M., Kuhn, R. M., & Kent, W. J. (2020). UCSC Genome Browser enters 20th year. Nucleic Acids Research, 48(D1), D756-D761. https://doi.org/10.1093/nar/gkz1012 - PubMed
  9. Maxam, A. M., & Gilbert, W. (1977). A new method for sequencing DNA. Proceedings of the National Academy of Sciences of the United States of America, 74(2), 560-564. https://doi.org/10.1073/pnas.74.2.560 - PubMed
  10. McKusick, V. A. (1965). Some computer applications to problems in human genetics. Methods of Information in Medicine, 4(4), 183-189. - PubMed
  11. McKusick, V. A. (1980). The anatomy of the human genome. American Journal of Medicine, 69(2), 267-276. https://doi.org/10.1016/0002-9343(80)90388-5 - PubMed
  12. McKusick, V. A. (1981). The human genome through the eyes of Mercator and Vesalius. Transactions of the American Clinical and Climatological Association, 92, 66-90. - PubMed
  13. McKusick, V. A. (1989). The human genome organization: History, purposes, and membership. Genomics, 5(2), 385-387. https://doi.org/10.1016/0888-7543(89)90077-3 - PubMed
  14. McKusick, V. A. (2001). The anatomy of the human genome: A neo-Vesalian basis for medicine in the 21st century. Journal of the American Medical Association, 286(18), 2289-2295. https://doi.org/10.1001/jama.286.18.2289 - PubMed
  15. McKusick, V. A. (2006). A 60-year tale of spots, maps, and genes. Annual Review of Genomics and Human Genetics, 7, 1-27. https://doi.org/10.1146/annurev.genom.7.080505.115749 - PubMed
  16. McKusick, V. A., & Ruddle, F. H. (1977). The status of the gene map of the human chromosomes. Science, 196(4288), 390-405. https://doi.org/10.1126/science.850784 - PubMed
  17. Mullis, K., Faloona, F., Scharf, S., Saiki, R., Horn, G., & Erlich, H. (1986). Specific amplification of DNA in vitro: The polymerase chain reaction. Cold Spring Harbor Symposia on Quantitative Biology, 51(Pt 1), 263-273. https://doi.org/10.1101/sqb.1986.051.01.032 - PubMed
  18. Nathans, D., & Smith, H. O. (1975). Restriction endonucleases in the analysis and restructuring of DNA molecules. Annual Review of Biochemistry, 44, 273-293. https://doi.org/10.1146/annurev.bi.44.070175.001421 - PubMed
  19. Philippakis, A. A., Azzariti, D. R., Beltran, S., Brookes, A. J., Brownstein, C. A., Brudno, M., Brunner, H. G., Buske, O. J., Carey, K., Doll, C., Dumitriu, S., Dyke, S. O., den Dunnen, J. T., Firth, H. V., Gibbs, R. A., Girdea, M., Gonzalez, M., Haendel, M. A., Hamosh, A., … Rehm, H. L. (2015). The matchmaker exchange: A platform for rare disease gene discovery. Human Mutation, 36(10), 915-921. https://doi.org/10.1002/humu.22858 - PubMed
  20. Sanger, F., Nicklen, S., & Coulson, A. R. (1977). DNA sequencing with chain-terminating inhibitors. Proceedings of the National Academy of Sciences of the United States of America, 74(12), 5463-5467. https://doi.org/10.1073/pnas.74.12.5463 - PubMed
  21. Smith, L. M., Sanders, J. Z., Kaiser, R. J., Hughes, P., Dodd, C., Connell, C. R., Heiner, C., Kent, S. B., & Hood, L. E. (1986). Fluorescence detection in automated DNA sequence analysis. Nature, 321(6071), 674-679. https://doi.org/10.1038/321674a0 - PubMed
  22. Sobreira, N., Schiettecatte, F., Valle, D., & Hamosh, A. (2015). GeneMatcher: A matching tool for connecting investigators with an interest in the same gene. Human Mutation, 36(10), 928-930. https://doi.org/10.1002/humu.22844 - PubMed
  23. Tcheandjieu, C., Aguirre, M., Gustafsson, S., Saha, P., Potiny, P., Haendel, M., Ingelsson, E., Rivas, M. A., & Priest, J. R. (2020). A phenome-wide association study of 26 Mendelian genes reveals phenotypic expressivity of common and rare variants within the general population. PLoS Genetics, 16(11), e1008802. https://doi.org/10.1371/journal.pgen.1008802 - PubMed

Publication Types