The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders
Open accessAbstract
Molecular diagnosis of pediatric neurodevelopmental disorders by genomic sequencing is frequently informative and cost-effective and can affect clinical care.
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Cites
Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration
Thorvaldsdottir, H., Robinson, J. T., & Mesirov, J. P. (2013) · Briefings in Bioinformatics · doi:10.1093/bib/bbs017 · Cited by 9,049
Diagnostic exome sequencing in persons with severe intellectual disability
de Ligt, J., Willemsen, M. H., van Bon, B. W. M., Kleefstra, T., Yntema, H. G., Kroes, T., Vulto-van Silfhout, A. T., Koolen, D. A., de Vries, P., Gilissen, C., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1206524 · Cited by 1,546
Genome sequencing identifies major causes of severe intellectual disability
Gilissen, C., Hehir-Kwa, J. Y., Thung, D. T., van de Vorst, M., van Bon, B. W. M., Willemsen, M. H., Kwint, M., Janssen, I. M., Hoischen, A., Schenck, A., et al. (2014) · Nature · doi:10.1038/nature13394 · Cited by 1,125
Carrier testing for severe childhood recessive diseases by next-generation sequencing
Bell, C. J., Dinwiddie, D. L., Miller, N. A., Hateley, S. L., Ganusova, E. E., Mudge, J., Langley, R. J., Zhang, L., Lee, C. C., Schilkey, F. D., et al. (2011) · Science Translational Medicine · doi:10.1126/scitranslmed.3001756 · Cited by 706
Self-citationClinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies
Köhler, S., Schulz, M. H., Krawitz, P., Bauer, S., Dölken, S., Ott, C. E., Mundlos, C., Horn, D., Mundlos, S., & Robinson, P. N. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.09.003 · Cited by 590
Optimal enzymes for amplifying sequencing libraries
Quail, M. A., Otto, T. D., Gu, Y., Harris, S. R., Skelly, T. F., McQuillan, J. A., Swerdlow, H. P., & Oyola, S. O. (2012) · Nature Methods · doi:10.1038/nmeth.1814 · Cited by 196
Cited by
Srivastava, S., Love-Nichols, J. A., Dies, K. A., Ledbetter, D. H., Martin, C. L., Chung, W. K., Firth, H. V., Frazier, T., Hansen, R. L., Prock, L., et al. (2019) · Genetics in Medicine · doi:10.1038/s41436-019-0554-6 · Cited by 695
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-citationLionel, A. C., Costain, G., Monfared, N., Walker, S., Reuter, M. S., Hosseini, S. M., Thiruvahindrapuram, B., Merico, D., Jobling, R., Nalpathamkalam, T., et al. (2018) · Genetics in Medicine · doi:10.1038/gim.2017.119 · Cited by 557
Schwarze, K., Buchanan, J., Taylor, J. C., & Wordsworth, S. (2018) · Genetics in Medicine · doi:10.1038/gim.2017.247 · Cited by 513
Next-generation diagnostics and disease-gene discovery with the Exomiser
Smedley, D., Jacobsen, J. O. B., Jäger, M., Köhler, S., Holtgrewe, M., Schubach, M., Siragusa, E., Zemojtel, T., Buske, O. J., Washington, N. L., et al. (2015) · Nature Protocols · doi:10.1038/nprot.2015.124 · Cited by 445
Metadata
- Authors
- Soden, S. E., Saunders, C. J., Willig, L. K., Farrow, E. G., Smith, L. D., Petrikin, J. E., LePichon, J.-B., Miller, N. A., Thiffault, I., Dinwiddie, D. L., Twist, G., Noll, A., Heese, B. A., Zellmer, L., Atherton, A. M., Abdelmoity, A. T., Safina, N., Nyp, S. S., Zuccarelli, B., Larson, I. A., Modrcin, A., Herd, S., Creed, M., Ye, Z., Yuan, X., Brodsky, R. A., & Kingsmore, S. F.
- Venue
- Science Translational Medicine
- Published
- 2014-12-03
- Volume
- 6
- Issue
- 265
- Pages
- 265ra168-265ra168
- ISSN
- 1946-6234 (ISSN-L)
- 1946-6242
- OpenAlex
- W2143887298
- Cited by
- 528
- References
- 6
- FWCI
- 34.28
- Type
- journal article
- Language
- en
- Open access
- green
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- CoChat. (2026). Citation check: Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. https://app.cochat.ai/papers/10.1126/scitranslmed.3010076
- The paper
- Soden, S. E., Saunders, C. J., Willig, L. K., Farrow, E. G., Smith, L. D., Petrikin, J. E., LePichon, J.-B., Miller, N. A., Thiffault, I., Dinwiddie, D. L., Twist, G., Noll, A., Heese, B. A., Zellmer, L., Atherton, A. M., Abdelmoity, A. T., Safina, N., Nyp, S. S., Zuccarelli, B., . . . Kingsmore, S. F. (2014). Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. Science Translational Medicine. https://doi.org/10.1126/scitranslmed.3010076
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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.
