The DOI matches its Crossref record; 76 of the 76 references it cites were found in a registry or an index.
A Children's Oncology Group and TARGET initiative exploring the genetic landscape of Wilms tumor
Open accessAbstract
We performed genome-wide sequencing and analyzed mRNA and miRNA expression, DNA copy number, and DNA methylation in 117 Wilms tumors, followed by targeted sequencing of 651 Wilms tumors. In addition to genes previously implicated in Wilms tumors (WT1, CTNNB1, AMER1, DROSHA, DGCR8, XPO5, DICER1, SIX1, SIX2, MLLT1, MYCN, and TP53), we identified mutations in genes not previously recognized as recurrently involved in Wilms tumors, the most frequent being BCOR, BCORL1, NONO, MAX, COL6A3, ASXL1, MAP3K4, and ARID1A. DNA copy number changes resulted in recurrent 1q gain, MYCN amplification, LIN28B gain, and MIRLET7A loss. Unexpected germline variants involved PALB2 and CHEK2. Integrated analyses support two major classes of genetic changes that preserve the progenitor state and/or interrupt normal development.
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Madanat-Harjuoja, L. M., Renfro, L. A., Klega, K., Tornwall, B., Thorner, A. R., Nag, A., Dix, D., Dome, J. S., Diller, L. R., Fernandez, C. V., et al. (2022) · Journal of Clinical Oncology · doi:10.1200/jco.22.00098 · Cited by 41
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Metadata
- Authors
- Gadd, S., Huff, V., Walz, A. L., Ooms, A. H. A. G., Armstrong, A. E., Gerhard, D. S., Smith, M. A., Guidry Auvil, J. M., Meerzaman, D., Chen, Q.-R., Hsu, C. H., Yan, C., Nguyen, C., Hu, Y., Hermida, L. C., Davidsen, T., Gesuwan, P., Ma, Y., Zong, Z., Mungall, A. J., Moore, R. A., Marra, M. A., Dome, J. S., Mullighan, C. G., Ma, J., Wheeler, D. A., Hampton, O. A., Ross, N., Gastier-Foster, J. M., Arold, S. T., & Perlman, E. J.
- Venue
- Nature Genetics
- Published
- 2017-08-21
- Volume
- 49
- Issue
- 10
- Pages
- 1487-1494
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2746135575
- Cited by
- 367
- References
- 76
- FWCI
- 11.26
- Type
- journal article
- Language
- en
- Open access
- green
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- Gadd, S., Huff, V., Walz, A. L., Ooms, A. H. A. G., Armstrong, A. E., Gerhard, D. S., Smith, M. A., Guidry Auvil, J. M., Meerzaman, D., Chen, Q.-R., Hsu, C. H., Yan, C., Nguyen, C., Hu, Y., Hermida, L. C., Davidsen, T., Gesuwan, P., Ma, Y., Zong, Z., . . . Perlman, E. J. (2017). A Children's Oncology Group and TARGET initiative exploring the genetic landscape of Wilms tumor. Nature Genetics. https://doi.org/10.1038/ng.3940
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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.