The DOI matches its Crossref record; 25 of the 25 references it cites were found in a registry or an index.
Noninvasive Whole-Genome Sequencing of a Human Fetus
Open accessAbstract
Sequencing of cell-free fetal-derived DNA from maternal plasma provides a noninvasive way to predict the fetal genome sequence.
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Cites
A framework for variation discovery and genotyping using next-generation DNA sequencing data
DePristo, M. A., Banks, E., Poplin, R., Garimella, K. V., Maguire, J. R., Hartl, C., Philippakis, A. A., del Angel, G., Rivas, M. A., Hanna, M., et al. (2011) · Nature Genetics · doi:10.1038/ng.806 · Cited by 11,456
A map of human genome variation from population-scale sequencing.
The 1000 Genomes Project Consortium (2010) · Nature · doi:10.1038/nature09534 · Cited by 7,877
Lo, Y. M. D., Tein, M. S. C., Lau, T. K., Haines, C. J., Leung, T. N., Poon, P. M. K., Wainscoat, J. S., Johnson, P. J., Chang, A. M. Z., & Hjelm, N. M. (1998) · The American Journal of Human Genetics · doi:10.1086/301800 · Cited by 1,653
A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
MacArthur, D. G., Balasubramanian, S., Frankish, A., Huang, N., Morris, J., Walter, K., Jostins, L., Habegger, L., Pickrell, J. K., Montgomery, S. B., et al. (2012) · Science · doi:10.1126/science.1215040 · Cited by 1,272
Rapid Clearance of Fetal DNA from Maternal Plasma
Lo, Y. M. D., Zhang, J., Leung, T. N., Lau, T. K., Chang, A. M. Z., & Hjelm, N. M. (1999) · The American Journal of Human Genetics · doi:10.1086/302205 · Cited by 1,157
Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood
Fan, H. C., Blumenfeld, Y. J., Chitkara, U., Hudgins, L., & Quake, S. R. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0808319105 · Cited by 1,114
Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus
Lo, Y. M. D., Chan, K. C. A., Sun, H., Chen, E. Z., Jiang, P., Lun, F. M. F., Zheng, Y. W., Leung, T. Y., Lau, T. K., Cantor, C. R., et al. (2010) · Science Translational Medicine · doi:10.1126/scitranslmed.3001720 · Cited by 1,101
Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing
Roach, J. C., Glusman, G., Smit, A. F. A., Huff, C. D., Hubley, R., Shannon, P. T., Rowen, L., Pant, K. P., Goodman, N., Bamshad, M., et al. (2010) · Science · doi:10.1126/science.1186802 · Cited by 1,084
Self-citationChiu, R. W. K., Chan, K. C. A., Gao, Y., Lau, V. Y. M., Zheng, W., Leung, T. Y., Foo, C. H. F., Xie, B., Tsui, N. B. Y., Lun, F. M. F., et al. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0810641105 · Cited by 942
Cited by
Chromosomal microarray versus karyotyping for prenatal diagnosis
Wapner, R. J., Martin, C. L., Levy, B., Ballif, B. C., Eng, C. M., Zachary, J. M., Savage, M., Platt, L. D., Saltzman, D., Grobman, W. A., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1203382 · Cited by 1,412
Genome-Wide Detection of Single-Nucleotide and Copy-Number Variations of a Single Human Cell
Zong, C., Lu, S., Chapman, A. R., & Xie, X. S. (2012) · Science · doi:10.1126/science.1229164 · Cited by 1,154
Precision Medicine: From Science To Value
Ginsburg, G. S., & Phillips, K. A. (2018) · Health Affairs · doi:10.1377/hlthaff.2017.1624 · Cited by 759
Costello, M., Pugh, T. J., Fennell, T. J., Stewart, C., Lichtenstein, L., Meldrim, J. C., Fostel, J. L., Friedrich, D. C., Perrin, D., Dionne, D., et al. (2013) · Nucleic Acids Research · doi:10.1093/nar/gks1443 · Cited by 522
Molecular genetic testing and the future of clinical genomics
Katsanis, S. H., & Katsanis, N. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3493 · Cited by 425
Metadata
- Authors
- Kitzman, J. O., Snyder, M. W., Ventura, M., Lewis, A. P., Qiu, R., Simmons, L. E., Gammill, H. S., Rubens, C. E., Santillan, D. A., Murray, J. C., Tabor, H. K., Bamshad, M. J., Eichler, E. E., & Shendure, J.
- Venue
- Science Translational Medicine
- Published
- 2012-06-06
- Volume
- 4
- Issue
- 137
- Pages
- 137ra76-137ra76
- ISSN
- 1946-6234 (ISSN-L)
- 1946-6242
- OpenAlex
- W1976775780
- Cited by
- 411
- References
- 25
- FWCI
- 50.71
- Type
- journal article
- Language
- en
- Open access
- green
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- CoChat. (2026). Citation check: Noninvasive Whole-Genome Sequencing of a Human Fetus. https://app.cochat.ai/papers/10.1126/scitranslmed.3004323
- The paper
- Kitzman, J. O., Snyder, M. W., Ventura, M., Lewis, A. P., Qiu, R., Simmons, L. E., Gammill, H. S., Rubens, C. E., Santillan, D. A., Murray, J. C., Tabor, H. K., Bamshad, M. J., Eichler, E. E., & Shendure, J. (2012). Noninvasive Whole-Genome Sequencing of a Human Fetus. Science Translational Medicine. https://doi.org/10.1126/scitranslmed.3004323
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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.
