The DOI matches its Crossref record; 21 of the 21 references it cites were found in a registry or an index.
Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome
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Citations
Cites
High Frequency of Mutations of the PIK3CA Gene in Human Cancers
Samuels, Y., Wang, Z., Bardelli, A., Silliman, N., Ptak, J., Szabo, S., Yan, H., Gazdar, A., Powell, S. M., Riggins, G. J., et al. (2004) · Science · doi:10.1126/science.1096502 · Cited by 3,437
Activating Mutations of the Stimulatory G Protein in the McCune–Albright Syndrome
Weinstein, L. S., Shenker, A., Gejman, P. V., Merino, M. J., Friedman, E., & Spiegel, A. M. (1991) · New England Journal of Medicine · doi:10.1056/nejm199112123252403 · Cited by 1,691
A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome
Lindhurst, M. J., Sapp, J. C., Teer, J. K., Johnston, J. J., Finn, E. M., Peters, K., Turner, J., Cannons, J. L., Bick, D., Blakemore, L., et al. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa1104017 · Cited by 903
Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic
Kang, S., Bader, A. G., & Vogt, P. K. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0408864102 · Cited by 823
Happle, R. (1987) · Journal of the American Academy of Dermatology · doi:10.1016/s0190-9622(87)80249-9 · Cited by 552
Somatic activation of AKT3 causes hemispheric developmental brain malformations
Poduri, A., Evrony, G. D., Cai, X., Elhosary, P. C., Beroukhim, R., Lehtinen, M. K., Hills, L. B., Heinzen, E. L., Hill, A., Hill, R. S., et al. (2012) · Neuron · doi:10.1016/j.neuron.2012.03.010 · Cited by 478
Tan, M.-H., Mester, J., Peterson, C., Yang, Y., Chen, J.-L., Rybicki, L. A., Milas, K., Pederson, H., Remzi, B., Orloff, M. S., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.11.013 · Cited by 420
Cancer-specific mutations in PIK3CA are oncogenic in vivo
Bader, A. G., Kang, S., & Vogt, P. K. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0510857103 · Cited by 420
Comparative analysis of RNA-Seq alignment algorithms and the RNA-Seq unified mapper (RUM)
Grant, G. R., Farkas, M. H., Pizarro, A. D., Lahens, N. F., Schug, J., Brunk, B. P., Stoeckert, C. J., Hogenesch, J. B., & Pierce, E. A. (2011) · Bioinformatics · doi:10.1093/bioinformatics/btr427 · Cited by 336
Constitutively active AKT depletes hematopoietic stem cells and induces leukemia in mice
Kharas, M. G., Okabe, R., Ganis, J. J., Gozo, M., Khandan, T., Paktinat, M., Gilliland, D. G., & Gritsman, K. (2010) · Blood · doi:10.1182/blood-2009-06-229443 · Cited by 272
Cited by
The PI3K Pathway in Human Disease
Fruman, D. A., Chiu, H., Hopkins, B. D., Bagrodia, S., Cantley, L. C., & Abraham, R. T. (2017) · Cell · doi:10.1016/j.cell.2017.07.029 · Cited by 2,749
Somatic mutation, genomic variation, and neurological disease
Poduri, A., Evrony, G. D., Cai, X., & Walsh, C. A. (2013) · Science · doi:10.1126/science.1237758 · Cited by 584
Malformations of cortical development: clinical features and genetic causes
Guerrini, R., & Dobyns, W. B. (2014) · The Lancet Neurology · doi:10.1016/s1474-4422(14)70040-7 · Cited by 513
Jansen, L. A., Mirzaa, G. M., Ishak, G. E., O'Roak, B. J., Hiatt, J. B., Roden, W. H., Gunter, S. A., Christian, S. L., Collins, S., Adams, C., et al. (2015) · Brain · doi:10.1093/brain/awv045 · Cited by 364
Genetics of lymphatic anomalies
Brouillard, P., Boon, L., & Vikkula, M. (2014) · Journal of Clinical Investigation · doi:10.1172/jci71614 · Cited by 355
Metadata
- Authors
- Kurek, K. C., Luks, V. L., Ayturk, U. M., Alomari, A. I., Fishman, S. J., Spencer, S. A., Mulliken, J. B., Bowen, M. E., Yamamoto, G. L., Kozakewich, H. P. W., & Warman, M. L.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2012-06
- Volume
- 90
- Issue
- 6
- Pages
- 1108-1115
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2164890061
- Cited by
- 532
- References
- 21
- FWCI
- 24.80
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome. https://app.cochat.ai/papers/10.1016/j.ajhg.2012.05.006
- The paper
- Kurek, K. C., Luks, V. L., Ayturk, U. M., Alomari, A. I., Fishman, S. J., Spencer, S. A., Mulliken, J. B., Bowen, M. E., Yamamoto, G. L., Kozakewich, H. P. W., & Warman, M. L. (2012). Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2012.05.006
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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.