The DOI matches its Crossref record; 33 of the 33 references it cites were found in a registry or an index.
Genomic Medicine — A Primer
Open accessAbstract
This review article launches our series on genomic medicine. It provides definitions of terms commonly used in genetics, delineates the distinction between genetics and genomics, and supplies examples of the ways in which genetic information can be used in the day-to-day care of patients. The mechanisms leading to the availability of more than 100,000 proteins from only approximately 30,000 genes are described. The various common types of mutations are identified and defined, and modes of inheritance — from simple mendelian to complex to mitochondrial — are detailed.
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Cites
Initial sequencing and analysis of the human genome
International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., et al. (2001) · Nature · doi:10.1038/35057062 · Cited by 24,216
Self-citationThe sequence of the human genome
Venter, J. C., Adams, M. D., Myers, E. W., Li, P. W., Mural, R. J., Sutton, G. G., Smith, H. O., Yandell, M., Evans, C. A., Holt, R. A., et al. (2001) · Science · doi:10.1126/science.1058040 · Cited by 13,909
Mitochondrial diseases in man and mouse
Wallace, D. C. (1999) · Science · doi:10.1126/science.283.5407.1482 · Cited by 3,060
Dean, M., Carrington, M., Winkler, C., Huttley, G. A., Smith, M. W., Allikmets, R., Goedert, J. J., Buchbinder, S. P., Vittinghoff, E., Gomperts, E., et al. (1996) · Science · doi:10.1126/science.273.5283.1856 · Cited by 2,484
Genomic imprinting: parental influence on the genome
Reik, W., & Walter, J. (2001) · Nature Reviews Genetics · doi:10.1038/35047554 · Cited by 2,285
Linkage disequilibrium in the human genome
Reich, D. E., Cargill, M., Bolk, S., Ireland, J., Sabeti, P. C., Richter, D. J., Lavery, T., Kouyoumjian, R., Farhadian, S. F., Ward, R., et al. (2001) · Nature · doi:10.1038/35075590 · Cited by 1,774
Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus
Horikawa, Y., Oda, N., Cox, N. J., Li, X., Orho-Melander, M., Hara, M., Hinokio, Y., Lindner, T. H., Mashima, H., Schwarz, P. E. H., et al. (2000) · Nature Genetics · doi:10.1038/79876 · Cited by 1,468
Alternative splicing: increasing diversity in the proteomic world
Graveley, B. R. (2001) · Trends in Genetics · doi:10.1016/s0168-9525(00)02176-4 · Cited by 1,221
Online Mendelian Inheritance In Man (OMIM)
Hamosh, A., Scott, A. F., Amberger, J., Valle, D., & McKusick, V. A. (2000) · Human Mutation · doi:10.1002/(sici)1098-1004(200001)15:1<57::aid-humu12>3.0.co;2-g · Cited by 1,156
Fearnhead, N. S. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.7.721 · Cited by 882
Cited by
A vision for the future of genomics research
Collins, F. S., Green, E. D., Guttmacher, A. E., Guyer, M. S., & on behalf of the US National Human Genome Research Institute (2003) · Nature · doi:10.1038/nature01626 · Cited by 1,752
Self-citationImplementing genomic medicine in the clinic: the future is here
Manolio, T. A., Chisholm, R. L., Ozenberger, B., Roden, D. M., Williams, M. S., Wilson, R., Bick, D., Bottinger, E. P., Brilliant, M. H., Eng, C., et al. (2013) · Genetics in Medicine · doi:10.1038/gim.2012.157 · Cited by 566
The Molecular-Genetic Basis of Functional Hyperandrogenism and the Polycystic Ovary Syndrome
Escobar-Morreale, H. F., Luque-Ramírez, M., & San Millán, J. L. (2005) · Endocrine Reviews · doi:10.1210/er.2004-0004 · Cited by 422
Moffitt, T. E., Caspi, A., & Rutter, M. (2006) · Perspectives on Psychological Science · doi:10.1111/j.1745-6916.2006.00002.x · Cited by 389
Prediction of Complex Human Traits Using the Genomic Best Linear Unbiased Predictor
de los Campos, G., Vazquez, A. I., Fernando, R., Klimentidis, Y. C., & Sorensen, D. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003608 · Cited by 349
Metadata
- Authors
- Guttmacher, A. E., & Collins, F. S.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2002-11-07
- Volume
- 347
- Issue
- 19
- Pages
- 1512-1520
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W1978195308
- Cited by
- 629
- References
- 33
- FWCI
- 31.85
- Type
- journal article
- Language
- en
- Open access
- bronze
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
