The DOI matches its Crossref record; 27 of the 27 references it cites were found in a registry or an index.
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome
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Citations
Cites
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
Tartaglia, M., Mehler, E. L., Goldberg, R., Zampino, G., Brunner, H. G., Kremer, H., van der Burgt, I., Crosby, A. H., Ion, A., Jeffery, S., et al. (2001) · Nature Genetics · doi:10.1038/ng772 · Cited by 1,733
Self-citationTartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D. L., van der Burgt, I., Brunner, H. G., Bertola, D. R., Crosby, A., Ion, A., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/340847 · Cited by 802
Self-citationGermline KRAS mutations cause Noonan syndrome
Schubbert, S., Zenker, M., Rowe, S. L., Böll, S., Klein, C., Bollag, G., van der Burgt, I., Musante, L., Kalscheuer, V., Wehner, L.-E., et al. (2006) · Nature Genetics · doi:10.1038/ng1748 · Cited by 730
Germline mutations in HRAS proto-oncogene cause Costello syndrome
Aoki, Y., Niihori, T., Kawame, H., Kurosawa, K., Ohashi, H., Tanaka, Y., Filocamo, M., Kato, K., Suzuki, Y., Kure, S., et al. (2005) · Nature Genetics · doi:10.1038/ng1641 · Cited by 679
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
Niihori, T., Aoki, Y., Narumi, Y., Neri, G., Cavé, H., Verloes, A., Okamoto, N., Hennekam, R. C. M., Gillessen-Kaesbach, G., Wieczorek, D., et al. (2006) · Nature Genetics · doi:10.1038/ng1749 · Cited by 599
Increasing Complexity of the Ras Signaling Pathway
Vojtek, A. B., & Der, C. J. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.32.19925 · Cited by 579
Germline Mutations in Genes Within the MAPK Pathway Cause Cardio-facio-cutaneous Syndrome
Rodriguez-Viciana, P., Tetsu, O., Tidyman, W. E., Estep, A. L., Conger, B. A., Cruz, M. S., McCormick, F., & Rauen, K. A. (2006) · Science · doi:10.1126/science.1124642 · Cited by 571
Hypertelorism With Turner Phenotype: A New Syndrome With Associated Congenital Heart Disease
Noonan, J. A. (1968) · American Journal of Diseases of Children · doi:10.1001/archpedi.1968.02100020377005 · Cited by 549
Margarit, S. M., Sondermann, H., Hall, B. E., Nagar, B., Hoelz, A., Pirruccello, M., Bar-Sagi, D., & Kuriyan, J. (2003) · Cell · doi:10.1016/s0092-8674(03)00149-1 · Cited by 480
Self-citationA clinical study of Noonan syndrome.
Sharland, M., Burch, M., McKenna, W. M., & Paton, M. A. (1992) · Archives of Disease in Childhood · doi:10.1136/adc.67.2.178 · Cited by 475
Cited by
GEFs and GAPs: Critical Elements in the Control of Small G Proteins
Bos, J. L., Rehmann, H., & Wittinghofer, A. (2007) · Cell · doi:10.1016/j.cell.2007.05.018 · Cited by 1,903
Hyperactive Ras in developmental disorders and cancer
Schubbert, S., Shannon, K., & Bollag, G. (2007) · Nature Reviews Cancer · doi:10.1038/nrc2109 · Cited by 1,583
Regulation of Small GTPases by GEFs, GAPs, and GDIs
Cherfils, J., & Zeghouf, M. (2013) · Physiological Reviews · doi:10.1152/physrev.00003.2012 · Cited by 1,245
An integrative genomic and proteomic analysis of pik3ca, pten, and akt mutations in breast cancer.
Stemke-Hale, K., Gonzalez-Angulo, A. M., Lluch, A., Neve, R. M., Kuo, W.-L., Davies, M., Carey, M., Hu, Z., Guan, Y., Sahin, A., et al. (2008) · Cancer Research · doi:10.1158/0008-5472.can-07-6854 · Cited by 1,054
Hennessy, B. T., Gonzalez-Angulo, A.-M., Stemke-Hale, K., Gilcrease, M. Z., Krishnamurthy, S., Lee, J.-S., Fridlyand, J., Sahin, A., Agarwal, R., Joy, C., et al. (2009) · Cancer Research · doi:10.1158/0008-5472.can-08-3441 · Cited by 874
Metadata
- Authors
- Tartaglia, M., Pennacchio, L. A., Zhao, C., Yadav, K. K., Fodale, V., Sarkozy, A., Pandit, B., Oishi, K., Martinelli, S., Schackwitz, W., Ustaszewska, A., Martin, J., Bristow, J., Carta, C., Lepri, F., Neri, C., Vasta, I., Gibson, K., Curry, C. J., Siguero, J. P. L., Digilio, M. C., Zampino, G., Dallapiccola, B., Bar-Sagi, D., & Gelb, B. D.
- Venue
- Nature Genetics
- Published
- 2006-12-03
- Volume
- 39
- Issue
- 1
- Pages
- 75-79
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1526800753
- Cited by
- 586
- References
- 27
- FWCI
- 19.52
- Type
- journal article
- Language
- en
- Open access
- green
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- CoChat. (2026). Citation check: Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. https://app.cochat.ai/papers/10.1038/ng1939
- The paper
- Tartaglia, M., Pennacchio, L. A., Zhao, C., Yadav, K. K., Fodale, V., Sarkozy, A., Pandit, B., Oishi, K., Martinelli, S., Schackwitz, W., Ustaszewska, A., Martin, J., Bristow, J., Carta, C., Lepri, F., Neri, C., Vasta, I., Gibson, K., Curry, C. J., . . . Gelb, B. D. (2007). Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nature Genetics. https://doi.org/10.1038/ng1939
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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.
