The DOI matches its Crossref record; 14 of the 14 references it cites were found in a registry or an index.
Disease gene identification strategies for exome sequencing
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Cites
A method and server for predicting damaging missense mutations.
Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., Kondrashov, A. S., & Sunyaev, S. R. (2010) · Nature Methods · doi:10.1038/nmeth0410-248 · Cited by 13,194
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
Identification of the Cystic Fibrosis Gene: Genetic Analysis
Kerem, B.-S., Rommens, J. M., Buchanan, J. A., Markiewicz, D., Cox, T. K., Chakravarti, A., Buchwald, M., & Tsui, L.-C. (1989) · Science · doi:10.1126/science.2570460 · Cited by 4,142
MutationTaster evaluates disease-causing potential of sequence alterations
Schwarz, J. M., Rödelsperger, C., Schuelke, M., & Seelow, D. (2010) · Nature Methods · doi:10.1038/nmeth0810-575 · Cited by 2,975
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
Botstein, D., & Risch, N. (2003) · Nature Genetics · doi:10.1038/ng1090 · Cited by 1,503
Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
Johnson, J. O., Mandrioli, J., Benatar, M., Abramzon, Y., Van Deerlin, V. M., Trojanowski, J. Q., Gibbs, J. R., Brunetti, M., Gronka, S., Wuu, J., et al. (2010) · Neuron · doi:10.1016/j.neuron.2010.11.036 · Cited by 1,235
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
The Next-Generation Sequencing Revolution and Its Impact on Genomics
Koboldt, D. C., Steinberg, K. M., Larson, D. E., Wilson, R. K., & Mardis, E. R. (2013) · Cell · doi:10.1016/j.cell.2013.09.006 · Cited by 1,037
Sequencing pools of individuals — mining genome-wide polymorphism data without big funding
Schlötterer, C., Tobler, R., Kofler, R., & Nolte, V. (2014) · Nature Reviews Genetics · doi:10.1038/nrg3803 · Cited by 784
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
Xue, Y., Ankala, A., Wilcox, W. R., & Hegde, M. R. (2015) · Genetics in Medicine · doi:10.1038/gim.2014.122 · Cited by 349
Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics
Sikkema-Raddatz, B., Johansson, L. F., de Boer, E. N., Almomani, R., Boven, L. G., van den Berg, M. P., van Spaendonck-Zwarts, K. Y., van Tintelen, J. P., Sijmons, R. H., Jongbloed, J. D. H., et al. (2013) · Human Mutation · doi:10.1002/humu.22332 · Cited by 300
Metadata
- Authors
- Gilissen, C., Hoischen, A., Brunner, H. G., & Veltman, J. A.
- Venue
- European Journal of Human Genetics
- Published
- 2012-01-18
- Volume
- 20
- Issue
- 5
- Pages
- 490-497
- ISSN
- 1018-4813 (ISSN-L)
- 1476-5438
- OpenAlex
- W1965691313
- Cited by
- 460
- References
- 14
- FWCI
- 33.30
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Disease gene identification strategies for exome sequencing. https://app.cochat.ai/papers/10.1038/ejhg.2011.258
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- Gilissen, C., Hoischen, A., Brunner, H. G., & Veltman, J. A. (2012). Disease gene identification strategies for exome sequencing. European Journal of Human Genetics. https://doi.org/10.1038/ejhg.2011.258
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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