The DOI matches its Crossref record; 22 of the 22 references it cites were found in a registry or an index.
Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus
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Citations
Cites
A catalogue of splice junction sequences
Mount, S. M. (1982) · Nucleic Acids Research · doi:10.1093/nar/10.2.459 · Cited by 3,797
Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)
Newton, C. R., Graham, A., Heptinstall, L. E., Powell, S. J., Summers, C., Kalsheker, N., Smith, J. C., & Markham, A. F. (1989) · Nucleic Acids Research · doi:10.1093/nar/17.7.2503 · Cited by 2,475
The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene
Bull, P. C., Thomas, G. R., Rommens, J. M., Forbes, J. R., & Cox, D. W. (1993) · Nature Genetics · doi:10.1038/ng1293-327 · Cited by 1,948
Vulpe, C., Levinson, B., Whitney, S., Packman, S., & Gitschier, J. (1993) · Nature Genetics · doi:10.1038/ng0193-7 · Cited by 1,418
Krawczak, M., Reiss, J., & Cooper, D. (1992) · Human Genetics · doi:10.1007/bf00210743 · Cited by 1,324
Chelly, J., Tümer, Z., Tønnesen, T., Petterson, A., Ishikawa-Brush, Y., Tommerup, N., Horn, N., & Monaco, A. P. (1993) · Nature Genetics · doi:10.1038/ng0193-14 · Cited by 726
Isolation of a partial candidate gene for Menkes disease by positional cloning
Mercer, J. F. B., Livingston, J., Hall, B., Paynter, J. A., Begy, C., Chandrasekharappa, S., Lockhart, P., Grimes, A., Bhave, M., Siemieniak, D., et al. (1993) · Nature Genetics · doi:10.1038/ng0193-20 · Cited by 696
Primary structure of two P-type ATPases involved in copper homeostasis in Enterococcus hirae
Odermatt, A., Suter, H., Krapf, R., & Solioz, M. (1993) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)31455-8 · Cited by 377
Nonsense mutations in the dihydrofolate reductase gene affect RNA processing.
Urlaub, G., Mitchell, P. J., Ciudad, C. J., & Chasin, L. A. (1989) · Molecular and Cellular Biology · doi:10.1128/mcb.9.7.2868 · Cited by 354
Mechanisms for selecting 5′ splice sites in mammalian pre-mRNA splicing
Horowitz, D. S., & Krainer, A. R. (1994) · Trends in Genetics · doi:10.1016/0168-9525(94)90233-x · Cited by 256
Cited by
Cox, T. R., & Erler, J. T. (2011) · Disease Models & Mechanisms · doi:10.1242/dmm.004077 · Cited by 1,569
Function and Regulation of Human Copper-Transporting ATPases
Lutsenko, S., Barnes, N. L., Bartee, M. Y., & Dmitriev, O. Y. (2007) · Physiological Reviews · doi:10.1152/physrev.00004.2006 · Cited by 864
Ward, A. J., & Cooper, T. A. (2010) · The Journal of Pathology · doi:10.1002/path.2649 · Cited by 414
Copper deficiency myelopathy produces a clinical picture like subacute combined degeneration
Kumar, N., Gross, J. B., & Ahlskog, J. E. (2004) · Neurology · doi:10.1212/01.wnl.0000132644.52613.fa · Cited by 323
Ehlers-Danlos syndromes and Marfan syndrome
Callewaert, B., Malfait, F., Loeys, B., & De Paepe, A. (2008) · Best Practice & Research Clinical Rheumatology · doi:10.1016/j.berh.2007.12.005 · Cited by 257
Metadata
- Authors
- Kaler, S. G., Gallo, L. K., Proud, V. K., Percy, A. K., Mark, Y., Segal, N. A., Goldstein, D. S., Holmes, C. S., & Gahl, W. A.
- Venue
- Nature Genetics
- Published
- 1994-10
- Volume
- 8
- Issue
- 2
- Pages
- 195-202
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2157647186
- Cited by
- 264
- References
- 22
- FWCI
- 14.89
- 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: Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. https://app.cochat.ai/papers/10.1038/ng1094-195
- The paper
- Kaler, S. G., Gallo, L. K., Proud, V. K., Percy, A. K., Mark, Y., Segal, N. A., Goldstein, D. S., Holmes, C. S., & Gahl, W. A. (1994). Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nature Genetics. https://doi.org/10.1038/ng1094-195
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.
