The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease
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Citations
Cites
Targeted capture and massively parallel sequencing of 12 human exomes
Ng, S. B., Turner, E. H., Robertson, P. D., Flygare, S. D., Bigham, A. W., Lee, C., Shaffer, T., Wong, M., Bhattacharjee, A., Eichler, E. E., et al. (2009) · Nature · doi:10.1038/nature08250 · Cited by 2,030
Exome sequencing identifies the cause of a mendelian disorder
Ng, S. B., Buckingham, K. J., Lee, C., Bigham, A. W., Tabor, H. K., Dent, K. M., Huff, C. D., Shannon, P. T., Jabs, E. W., Nickerson, D. A., et al. (2010) · Nature Genetics · doi:10.1038/ng.499 · Cited by 1,957
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
Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
Lupski, J. R., Reid, J. G., Gonzaga-Jauregui, C., Rio Deiros, D., Chen, D. C. Y., Nazareth, L., Bainbridge, M., Dinh, H., Jing, C., Wheeler, D. A., et al. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa0908094 · Cited by 759
Cited by
Challenges of Big Data analysis
Fan, J., Han, F., & Liu, H. (2014) · National Science Review · doi:10.1093/nsr/nwt032 · Cited by 1,482
Integrative omics for health and disease
Karczewski, K. J., & Snyder, M. P. (2018) · Nature Reviews Genetics · doi:10.1038/nrg.2018.4 · Cited by 1,158
Ashley, E. A. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.86 · Cited by 1,116
Mechanisms of Disease: Inflammatory Bowel Diseases
Ramos, G. P., & Papadakis, K. A. (2019) · Mayo Clinic Proceedings · doi:10.1016/j.mayocp.2018.09.013 · Cited by 1,021
Personalized medicine: motivation, challenges, and progress
Goetz, L. H., & Schork, N. J. (2018) · Fertility and Sterility · doi:10.1016/j.fertnstert.2018.05.006 · Cited by 976
Metadata
- Authors
- Worthey, E. A., Mayer, A. N., Syverson, G. D., Helbling, D., Bonacci, B. B., Decker, B., Serpe, J. M., Dasu, T., Tschannen, M. R., Veith, R. L., Basehore, M. J., Broeckel, U., Tomita-Mitchell, A., Arca, M. J., Casper, J. T., Margolis, D. A., Bick, D. P., Hessner, M. J., Routes, J. M., Verbsky, J. W., Jacob, H. J., & Dimmock, D. P.
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2011-03
- Volume
- 13
- Issue
- 3
- Pages
- 255-262
- ISSN
- 1098-3600 (ISSN-L)
- OpenAlex
- W2097903730
- Cited by
- 711
- References
- 4
- FWCI
- 27.75
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. https://app.cochat.ai/papers/10.1097/gim.0b013e3182088158
- The paper
- Worthey, E. A., Mayer, A. N., Syverson, G. D., Helbling, D., Bonacci, B. B., Decker, B., Serpe, J. M., Dasu, T., Tschannen, M. R., Veith, R. L., Basehore, M. J., Broeckel, U., Tomita-Mitchell, A., Arca, M. J., Casper, J. T., Margolis, D. A., Bick, D. P., Hessner, M. J., Routes, J. M., . . . Dimmock, D. P. (2011). Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genetics in Medicine. https://doi.org/10.1097/gim.0b013e3182088158
Data sources
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.
