The DOI matches its Crossref record; 8 of the 8 references it cites were found in a registry or an index.
Clinical application of whole-exome sequencing across clinical indications
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Citations
Cites
Fast and accurate short read alignment with Burrows-Wheeler transform
Li, H., & Durbin, R. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp324 · Cited by 58,607
Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594
Self-citationVan der Auwera, G. A., Carneiro, M. O., Hartl, C., Poplin, R., del Angel, G., Levy‐Moonshine, A., Jordan, T., Shakir, K., Roazen, D., Thibault, J., et al. (2013) · Current Protocols in Bioinformatics · doi:10.1002/0471250953.bi1110s43 · Cited by 6,687
The contribution of de novo coding mutations to autism spectrum disorder
Iossifov, I., O’Roak, B. J., Sanders, S. J., Ronemus, M., Krumm, N., Levy, D., Stessman, H. A., Witherspoon, K. T., Vives, L., Patterson, K. E., et al. (2014) · Nature · doi:10.1038/nature13908 · Cited by 2,585
Large-scale discovery of novel genetic causes of developmental disorders
Study, T. D. D. D. (2015) · Nature · doi:10.1038/nature14135 · Cited by 1,124
De novo mutations in histone-modifying genes in congenital heart disease
Zaidi, S., Choi, M., Wakimoto, H., Ma, L., Jiang, J., Overton, J. D., Romano-Adesman, A., Bjornson, R. D., Breitbart, R. E., Brown, K. K., et al. (2013) · Nature · doi:10.1038/nature12141 · Cited by 934
Self-citationSomatic mutations in cerebral cortical malformations
Jamuar, S. S., Lam, A.-T. N., Kircher, M., D’Gama, A. M., Wang, J., Barry, B. J., Zhang, X., Hill, R. S., Partlow, J. N., Rozzo, A., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1314432 · Cited by 392
Bronicki, L. M., Redin, C., Drunat, S., Piton, A., Lyons, M., Passemard, S., Baumann, C., Faivre, L., Thevenon, J., Rivière, J.-B., et al. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.29 · Cited by 105
Cited by
Identification, Evaluation, and Management of Children With Autism Spectrum Disorder
Hyman, S. L., Levy, S. E., Myers, S. M., COUNCIL ON CHILDREN WITH DISABILITIES, S. O. D. A. B. P., Kuo, D. Z., Apkon, S., Davidson, L. F., Ellerbeck, K. A., Foster, J. E. A., Noritz, G. H., et al. (2020) · Pediatrics · doi:10.1542/peds.2019-3447 · Cited by 1,798
Ashley, E. A. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.86 · Cited by 1,116
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
Self-citationExpansion of the Human Phenotype Ontology (HPO) knowledge base and resources
Köhler, S., Carmody, L., Vasilevsky, N., Jacobsen, J. O. B., Danis, D., Gourdine, J.-P., Gargano, M., Harris, N. L., Matentzoglu, N., McMurry, J. A., et al. (2019) · Nucleic Acids Research · doi:10.1093/nar/gky1105 · Cited by 677
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
Metadata
- Authors
- Retterer, K., Juusola, J., Cho, M. T., Vitazka, P., Millan, F., Gibellini, F., Vertino-Bell, A., Smaoui, N., Neidich, J., Monaghan, K. G., McKnight, D., Bai, R., Suchy, S., Friedman, B., Tahiliani, J., Pineda-Alvarez, D., Richard, G., Brandt, T., Haverfield, E., Chung, W. K., & Bale, S.
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2016-07
- Volume
- 18
- Issue
- 7
- Pages
- 696-704
- ISSN
- 1098-3600 (ISSN-L)
- OpenAlex
- W2270303516
- Cited by
- 1,035
- References
- 8
- FWCI
- 35.16
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Clinical application of whole-exome sequencing across clinical indications. https://app.cochat.ai/papers/10.1038/gim.2015.148
- The paper
- Retterer, K., Juusola, J., Cho, M. T., Vitazka, P., Millan, F., Gibellini, F., Vertino-Bell, A., Smaoui, N., Neidich, J., Monaghan, K. G., McKnight, D., Bai, R., Suchy, S., Friedman, B., Tahiliani, J., Pineda-Alvarez, D., Richard, G., Brandt, T., Haverfield, E., . . . Bale, S. (2016). Clinical application of whole-exome sequencing across clinical indications. Genetics in Medicine. https://doi.org/10.1038/gim.2015.148
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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.
