The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7
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Citations
Cites
Metherell, L. A., Chapple, J. P., Cooray, S., David, A., Becker, C., Rüschendorf, F., Naville, D., Begeot, M., Khoo, B., Nürnberg, P., et al. (2005) · Nature Genetics · doi:10.1038/ng1501 · Cited by 437
Cited by
A landscape of germ line mutations in a cohort of inherited bone marrow failure patients
Bluteau, O., Sebert, M., Leblanc, T., Peffault de Latour, R., Quentin, S., Lainey, E., Hernandez, L., Dalle, J.-H., Sicre de Fontbrune, F., Lengline, E., et al. (2018) · Blood · doi:10.1182/blood-2017-09-806489 · Cited by 355
Ripperger, T., Bielack, S. S., Borkhardt, A., Brecht, I. B., Burkhardt, B., Calaminus, G., Debatin, K., Deubzer, H., Dirksen, U., Eckert, C., et al. (2017) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38142 · Cited by 283
Flück, C. E. (2017) · European Journal of Endocrinology · doi:10.1530/eje-17-0128 · Cited by 75
An, N., Khan, S., Imgruet, M. K., Gurbuxani, S. K., Konecki, S. N., Burgess, M. R., & McNerney, M. E. (2018) · Blood · doi:10.1182/blood-2017-10-810028 · Cited by 55
Primary adrenal insufficiency in childhood: data from a large nationwide cohort
Capalbo, D., Moracas, C., Cappa, M., Balsamo, A., Maghnie, M., Wasniewska, M. G., Greggio, N. A., Baronio, F., Bizzarri, C., Ferro, G., et al. (2021) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgaa881 · Cited by 47
Metadata
- Authors
- Narumi, S., Amano, N., Ishii, T., Katsumata, N., Muroya, K., Adachi, M., Toyoshima, K., Tanaka, Y., Fukuzawa, R., Miyako, K., Kinjo, S., Ohga, S., Ihara, K., Inoue, H., Kinjo, T., Hara, T., Kohno, M., Yamada, S., Urano, H., Kitagawa, Y., Tsugawa, K., Higa, A., Miyawaki, M., Okutani, T., Kizaki, Z., Hamada, H., Kihara, M., Shiga, K., Yamaguchi, T., Kenmochi, M., Kitajima, H., Fukami, M., Shimizu, A., Kudoh, J., Shibata, S., Okano, H., Miyake, N., Matsumoto, N., & Hasegawa, T.
- Venue
- Nature Genetics
- Published
- 2016-05-16
- Volume
- 48
- Issue
- 7
- Pages
- 792-797
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2399654760
- Cited by
- 329
- References
- 1
- FWCI
- 27.42
- Type
- journal article
- Language
- en
- Open access
- closed
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
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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.