The DOI matches its Crossref record; 20 of the 20 references it cites were found in a registry or an index.
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia
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Citations
Cites
Walker, J. E., Saraste, M., Runswick, M. J., & Gay, N. J. (1982) · The EMBO Journal · doi:10.1002/j.1460-2075.1982.tb01276.x · Cited by 5,312
Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
Dunnen, J. T. D., & Antonarakis, S. E. (2000) · Human Mutation · doi:10.1002/(sici)1098-1004(200001)15:1<7::aid-humu4>3.0.co;2-n · Cited by 1,756
Gorbalenya, A. E., Koonin, E. V., Donchenko, A. P., & Blinov, V. M. (1989) · Nucleic Acids Research · doi:10.1093/nar/17.12.4713 · Cited by 996
Allegro, a new computer program for multipoint linkage analysis
Gudbjartsson, D. F., Jonasson, K., Frigge, M. L., & Kong, A. (2000) · Nature Genetics · doi:10.1038/75514 · Cited by 784
Troelstra, C., van Gool, A., de Wit, J., Vermeulen, W., Bootsma, D., & Hoeijmakers, J. H. J. (1992) · Cell · doi:10.1016/0092-8674(92)90390-x · Cited by 729
Avoiding Recomputation in Linkage Analysis
Schäffer, A. A., Gupta, S. K., Shriram, K., & Cottingham, Jr. (1994) · Human Heredity · doi:10.1159/000154222 · Cited by 668
Gibbons, R. J., Picketts, D. J., Villard, L., & Higgs, D. R. (1995) · Cell · doi:10.1016/0092-8674(95)90287-2 · Cited by 633
Kim, J. L., Morgenstern, K. A., Griffith, J. P., Dwyer, M. D., Thomson, J. A., Murcko, M. A., Lin, C., & Caron, P. R. (1998) · Structure · doi:10.1016/s0969-2126(98)00010-0 · Cited by 620
BRCA1 Is Associated with a Human SWI/SNF-Related Complex
Bochar, D. A., Wang, L., Beniya, H., Kinev, A., Xue, Y., Lane, W. S., Wang, W., Kashanchi, F., & Shiekhattar, R. (2000) · Cell · doi:10.1016/s0092-8674(00)00030-1 · Cited by 546
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Cited by
The DNA Damage Response: Making It Safe to Play with Knives
Ciccia, A., & Elledge, S. J. (2010) · Molecular Cell · doi:10.1016/j.molcel.2010.09.019 · Cited by 4,368
The podocyte slit diaphragm--from a thin grey line to a complex signalling hub
Grahammer, F., Schell, C., & Huber, T. B. (2013) · Nature Reviews Nephrology · doi:10.1038/nrneph.2013.169 · Cited by 269
Metadata
- Authors
- Boerkoel, C. F., Takashima, H., John, J., Yan, J., Stankiewicz, P., Rosenbarker, L., André, J.-L., Bogdanovic, R., Burguet, A., Cockfield, S., Cordeiro, I., Fründ, S., Illies, F., Joseph, M., Kaitila, I., Lama, G., Loirat, C., McLeod, D. R., Milford, D. V., Petty, E. M., Rodrigo, F., Saraiva, J. M., Schmidt, B., Smith, G. C., Spranger, J., Stein, A., Thiele, H., Tizard, J., Weksberg, R., Lupski, J. R., & Stockton, D. W.
- Venue
- Nature Genetics
- Published
- 2002-01-22
- Volume
- 30
- Issue
- 2
- Pages
- 215-220
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2001673724
- Cited by
- 329
- References
- 20
- FWCI
- 3.13
- 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.
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How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. https://app.cochat.ai/papers/10.1038/ng821
- The paper
- Boerkoel, C. F., Takashima, H., John, J., Yan, J., Stankiewicz, P., Rosenbarker, L., André, J.-L., Bogdanovic, R., Burguet, A., Cockfield, S., Cordeiro, I., Fründ, S., Illies, F., Joseph, M., Kaitila, I., Lama, G., Loirat, C., McLeod, D. R., Milford, D. V., . . . Stockton, D. W. (2002). Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nature Genetics. https://doi.org/10.1038/ng821
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.
