The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity
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Citations
Cites
Shp-2 Tyrosine Phosphatase: Signaling One Cell or Many
Feng, G.-S. (1999) · Experimental Cell Research · doi:10.1006/excr.1999.4668 · Cited by 285
Perkins, L. A., Johnson, M. R., Melnick, M. B., & Perrimon, N. (1996) · Developmental Biology · doi:10.1006/dbio.1996.0285 · Cited by 114
Cited by
The ‘Shp'ing news: SH2 domain-containing tyrosine phosphatases in cell signaling
Neel, B. G., Gu, H., & Pao, L. (2003) · Trends in Biochemical Sciences · doi:10.1016/s0968-0004(03)00091-4 · Cited by 1,249
Ackerman, M. J., Priori, S. G., Willems, S., Berul, C., Brugada, R., Calkins, H., Camm, A. J., Ellinor, P. T., Gollob, M., Hamilton, R., et al. (2011) · Europace · doi:10.1093/europace/eur245 · Cited by 895
Pierpont, M. E., Brueckner, M., Chung, W. K., Garg, V., Lacro, R. V., McGuire, A. L., Mital, S., Priest, J. R., Pu, W. T., Roberts, A., et al. (2018) · Circulation · doi:10.1161/cir.0000000000000606 · Cited by 654
Self-citationGermline gain-of-function mutations in SOS1 cause Noonan syndrome
Roberts, A. E., Araki, T., Swanson, K. D., Montgomery, K. T., Schiripo, T. A., Joshi, V. A., Li, L., Yassin, Y., Tamburino, A. M., Neel, B. G., et al. (2007) · Nature Genetics · doi:10.1038/ng1926 · Cited by 605
Self-citationGain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome
Tartaglia, M., Pennacchio, L. A., Zhao, C., Yadav, K. K., Fodale, V., Sarkozy, A., Pandit, B., Oishi, K., Martinelli, S., Schackwitz, W., et al. (2007) · Nature Genetics · doi:10.1038/ng1939 · Cited by 586
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Metadata
- Authors
- Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D. L., van der Burgt, I., Brunner, H. G., Bertola, D. R., Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S., Patton, M. A., & Gelb, B. D.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2002-06
- Volume
- 70
- Issue
- 6
- Pages
- 1555-1563
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2098174002
- Cited by
- 802
- References
- 2
- FWCI
- 11.45
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity. https://app.cochat.ai/papers/10.1086/340847
- The paper
- Tartaglia, M., Kalidas, K., Shaw, A., Song, X., Musat, D. L., van der Burgt, I., Brunner, H. G., Bertola, D. R., Crosby, A., Ion, A., Kucherlapati, R. S., Jeffery, S., Patton, M. A., & Gelb, B. D. (2002). PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity. The American Journal of Human Genetics. https://doi.org/10.1086/340847
Data sources
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.
