The DOI matches its Crossref record; 48 of the 48 references it cites were found in a registry or an index.
Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome
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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
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., Garimella, K., Altshuler, D., Gabriel, S., Daly, M., et al. (2010) · Genome Research · doi:10.1101/gr.107524.110 · Cited by 27,895
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Wang, K., Li, M., & Hakonarson, H. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq603 · Cited by 14,621
Efficient selection for high-expression transfectants with a novel eukaryotic vector
Hitoshi, N., Ken-ichi, Y., & Jun-ichi, M. (1991) · Gene · doi:10.1016/0378-1119(91)90434-d · Cited by 5,134
Takai, Y., Sasaki, T., & Matozaki, T. (2001) · Physiological Reviews · doi:10.1152/physrev.2001.81.1.153 · Cited by 2,475
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
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
The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation
Tidyman, W. E., & Rauen, K. A. (2009) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2009.04.001 · Cited by 780
Germline 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
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
Pandit, B., Sarkozy, A., Pennacchio, L. A., Carta, C., Oishi, K., Martinelli, S., Pogna, E. A., Schackwitz, W., Ustaszewska, A., Landstrom, A., et al. (2007) · Nature Genetics · doi:10.1038/ng2073 · Cited by 698
Cited by
A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor
Ratner, N., & Miller, S. J. (2015) · Nature Reviews Cancer · doi:10.1038/nrc3911 · Cited by 493
Recent advances in RASopathies
Aoki, Y., Niihori, T., Inoue, S.-I., & Matsubara, Y. (2016) · Journal of Human Genetics · doi:10.1038/jhg.2015.114 · Cited by 373
Self-citationSHP2 sails from physiology to pathology
Tajan, M., de Rocca Serra, A., Valet, P., Edouard, T., & Yart, A. (2015) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2015.08.005 · Cited by 232
Functional dysregulation of CDC42 causes diverse developmental phenotypes
Martinelli, S., Krumbach, O. H. F., Pantaleoni, F., Coppola, S., Amin, E., Pannone, L., Nouri, K., Farina, L., Dvorsky, R., Lepri, F., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.12.015 · Cited by 188
Minor intron retention drives clonal hematopoietic disorders and diverse cancer predisposition
Inoue, D., Polaski, J. T., Taylor, J., Castel, P., Chen, S., Kobayashi, S., Hogg, S. J., Hayashi, Y., Pineda, J. M. B., El Marabti, E., et al. (2021) · Nature Genetics · doi:10.1038/s41588-021-00828-9 · Cited by 108
Metadata
- Authors
- Aoki, Y., Niihori, T., Banjo, T., Okamoto, N., Mizuno, S., Kurosawa, K., Ogata, T., Takada, F., Yano, M., Ando, T., Hoshika, T., Barnett, C., Ohashi, H., Kawame, H., Hasegawa, T., Okutani, T., Nagashima, T., Hasegawa, S., Funayama, R., Nagashima, T., Nakayama, K., Inoue, S.-I., Watanabe, Y., Ogura, T., & Matsubara, Y.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2013-07
- Volume
- 93
- Issue
- 1
- Pages
- 173-180
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W1982387674
- Cited by
- 330
- References
- 48
- FWCI
- 12.64
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome. https://app.cochat.ai/papers/10.1016/j.ajhg.2013.05.021
- The paper
- Aoki, Y., Niihori, T., Banjo, T., Okamoto, N., Mizuno, S., Kurosawa, K., Ogata, T., Takada, F., Yano, M., Ando, T., Hoshika, T., Barnett, C., Ohashi, H., Kawame, H., Hasegawa, T., Okutani, T., Nagashima, T., Hasegawa, S., Funayama, R., . . . Matsubara, Y. (2013). Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2013.05.021
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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.
