The DOI matches its Crossref record; 72 of the 72 references it cites were found in a registry or an index.
Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units
Open accessAbstract
Rapid whole-genome sequencing of neonates can shorten time to genetic disease diagnosis and thus genetic and prognostic counseling.
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Citations
Cites
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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
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Base-Calling of Automated Sequencer Traces Using Phred. II. Error Probabilities
Ewing, B., & Green, P. (1998) · Genome Research · doi:10.1101/gr.8.3.186 · Cited by 5,439
Functional interaction of β-catenin with the transcription factor LEF-1
Behrens, J., von Kries, J. P., Kühl, M., Bruhn, L., Wedlich, D., Grosschedl, R., & Birchmeier, W. (1996) · Nature · doi:10.1038/382638a0 · Cited by 2,912
Constitutive Transcriptional Activation by a β-Catenin-Tcf Complex in APC −/− Colon Carcinoma
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A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology
Pagliarini, D. J., Calvo, S. E., Chang, B., Sheth, S. A., Vafai, S. B., Ong, S.-E., Walford, G. A., Sugiana, C., Boneh, A., Chen, W. K., et al. (2008) · Cell · doi:10.1016/j.cell.2008.06.016 · Cited by 1,994
Cited by
The Ensembl Variant Effect Predictor
McLaren, W., Gil, L., Hunt, S. E., Riat, H. S., Ritchie, G. R. S., Thormann, A., Flicek, P., & Cunningham, F. (2016) · Genome Biology · doi:10.1186/s13059-016-0974-4 · Cited by 8,099
Ten years of next-generation sequencing technology
van Dijk, E. L., Auger, H., Jaszczyszyn, Y., & Thermes, C. (2014) · Trends in Genetics · doi:10.1016/j.tig.2014.07.001 · Cited by 1,622
Ashley, E. A. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.86 · Cited by 1,116
Precision Medicine: From Science To Value
Ginsburg, G. S., & Phillips, K. A. (2018) · Health Affairs · doi:10.1377/hlthaff.2017.1624 · Cited by 759
Clark, M. M., Stark, Z., Farnaes, L., Tan, T. Y., White, S. M., Dimmock, D., & Kingsmore, S. F. (2018) · npj Genomic Medicine · doi:10.1038/s41525-018-0053-8 · Cited by 619
Self-citation
Metadata
- Authors
- Saunders, C. J., Miller, N. A., Soden, S. E., Dinwiddie, D. L., Noll, A., Alnadi, N. A., Andraws, N., Patterson, M. L., Krivohlavek, L. A., Fellis, J., Humphray, S., Saffrey, P., Kingsbury, Z., Weir, J. C., Betley, J., Grocock, R. J., Margulies, E. H., Farrow, E. G., Artman, M., Safina, N. P., Petrikin, J. E., Hall, K. P., & Kingsmore, S. F.
- Venue
- Science Translational Medicine
- Published
- 2012-10-03
- Volume
- 4
- Issue
- 154
- Pages
- 154ra135-154ra135
- ISSN
- 1946-6234 (ISSN-L)
- 1946-6242
- OpenAlex
- W2100772802
- Cited by
- 656
- References
- 72
- FWCI
- 35.43
- Type
- journal article
- Language
- en
- Open access
- green
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- CoChat. (2026). Citation check: Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units. https://app.cochat.ai/papers/10.1126/scitranslmed.3004041
- The paper
- Saunders, C. J., Miller, N. A., Soden, S. E., Dinwiddie, D. L., Noll, A., Alnadi, N. A., Andraws, N., Patterson, M. L., Krivohlavek, L. A., Fellis, J., Humphray, S., Saffrey, P., Kingsbury, Z., Weir, J. C., Betley, J., Grocock, R. J., Margulies, E. H., Farrow, E. G., Artman, M., . . . Kingsmore, S. F. (2012). Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units. Science Translational Medicine. https://doi.org/10.1126/scitranslmed.3004041
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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.
