The DOI matches its Crossref record; 28 of the 28 references it cites were found in a registry or an index.
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
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Citations
Cites
Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia
Mundlos, S., Otto, F., Mundlos, C., Mulliken, J. B., Aylsworth, A. S., Albright, S., Lindhout, D., Cole, W. G., Henn, W., Knoll, J. H. M., et al. (1997) · Cell · doi:10.1016/s0092-8674(00)80260-3 · Cited by 1,522
Crisponi, L., Deiana, M., Loi, A., Chiappe, F., Uda, M., Amati, P., Bisceglia, L., Zelante, L., Nagaraja, R., Porcu, S., et al. (2001) · Nature Genetics · doi:10.1038/84781 · Cited by 990
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
Brais, B., Bouchard, J.-P., Xie, Y.-G., Rochefort, D. L., Chrétien, N., Tomé, F. M. S., Lafrentére, R. G., Rommens, J. M., Uyama, E., Nohira, O., et al. (1998) · Nature Genetics · doi:10.1038/ng0298-164 · Cited by 805
Altered Growth and Branching Patterns in Synpolydactyly Caused by Mutations in HOXD13
Muragaki, Y., Mundlos, S., Upton, J., & Olsen, B. R. (1996) · Science · doi:10.1126/science.272.5261.548 · Cited by 571
Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired
Brown, S. A., Warburton, D., Brown, L. Y., Yu, C.-Y., Roeder, E. R., Stengel-Rutkowski, S., Hennekam, R. C. M., & Muenke, M. (1998) · Nature Genetics · doi:10.1038/2484 · Cited by 520
Molecular genetics: Unmasking polyglutamine triggers in neurodegenerative disease
Gusella, J. F., & MacDonald, M. E. (2000) · Nature Reviews Neuroscience · doi:10.1038/35039051 · Cited by 404
Functional domains of the Drosophila Engrailed protein.
Han, K., & Manley, J. L. (1993) · The EMBO Journal · doi:10.1002/j.1460-2075.1993.tb05934.x · Cited by 272
Novel HOXA13 Mutations and the Phenotypic Spectrum of Hand-Foot-Genital Syndrome
Goodman, F. R., Bacchelli, C., Brady, A. F., Brueton, L. A., Fryns, J.-P., Mortlock, D. P., Innis, J. W., Holmes, L. B., Donnenfeld, A. E., Feingold, M., et al. (2000) · The American Journal of Human Genetics · doi:10.1086/302961 · Cited by 257
Self-citationCalado, A., Tome, F. M. S., Brais, B., Rouleau, G. A., Kuhn, U., Wahle, E., & Carmo-Fonseca, M. (2000) · Human Molecular Genetics · doi:10.1093/oxfordjournals.hmg.a018924 · Cited by 251
[Monogenic causes of X-linked mental retardation].
Guillén‐Navarro, E., & Glover-López, G. (2006) · PubMed · Cited by 228
Cited by
Berg, A. T., Berkovic, S. F., Brodie, M. J., Buchhalter, J., Cross, J. H., Van Emde Boas, W., Engel, J., French, J., Glauser, T. A., Mathern, G. W., et al. (2010) · Epilepsia · doi:10.1111/j.1528-1167.2010.02522.x · Cited by 4,363
Self-citationTrinucleotide Repeat Disorders
Orr, H. T., & Zoghbi, H. Y. (2007) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.29.051605.113042 · Cited by 1,368
The DNA sequence of the human X chromosome
Ross, M. T., Grafham, D. V., Coffey, A. J., Scherer, S., McLay, K., Muzny, D., Platzer, M., Howell, G. R., Burrows, C., Bird, C. P., et al. (2005) · Nature · doi:10.1038/nature03440 · Cited by 1,129
C ELL M IGRATION IN THE F OREBRAIN
Marín, O., & Rubenstein, J. L. R. (2003) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.26.041002.131058 · Cited by 915
Guerrini, R. (2006) · The Lancet · doi:10.1016/s0140-6736(06)68182-8 · Cited by 848
Metadata
- Authors
- Strømme, P., Mangelsdorf, M. E., Shaw, M. A., Lower, K. M., Lewis, S. M. E., Bruyere, H., Lütcherath, V., Gedeon, Á. K., Wallace, R. H., Scheffer, I. E., Turner, G., Partington, M., Frints, S. G. M., Fryns, J.-P., Sutherland, G. R., Mulley, J. C., & Gécz, J.
- Venue
- Nature Genetics
- Published
- 2002-03-11
- Volume
- 30
- Issue
- 4
- Pages
- 441-445
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2047498240
- Cited by
- 440
- References
- 28
- FWCI
- 19.34
- Type
- journal article
- Language
- en
- Open access
- closed
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- This page
- CoChat. (2026). Citation check: Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. https://app.cochat.ai/papers/10.1038/ng862
- The paper
- Strømme, P., Mangelsdorf, M. E., Shaw, M. A., Lower, K. M., Lewis, S. M. E., Bruyere, H., Lütcherath, V., Gedeon, Á. K., Wallace, R. H., Scheffer, I. E., Turner, G., Partington, M., Frints, S. G. M., Fryns, J.-P., Sutherland, G. R., Mulley, J. C., & Gécz, J. (2002). Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nature Genetics. https://doi.org/10.1038/ng862
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.
