The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
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Citations
Cites
Proteomic characterization of the human centrosome by protein correlation profiling
Andersen, J. S., Wilkinson, C. J., Mayor, T., Mortensen, P., Nigg, E. A., & Mann, M. (2003) · Nature · doi:10.1038/nature02166 · Cited by 1,319
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome
Ferland, R. J., Eyaid, W., Collura, R. V., Tully, L. D., Hill, R. S., Al-Nouri, D., Al-Rumayyan, A., Topcu, M., Gascon, G., Bodell, A., et al. (2004) · Nature Genetics · doi:10.1038/ng1419 · Cited by 408
Cited by
Genes and molecular pathways underpinning ciliopathies
Reiter, J. F., & Leroux, M. R. (2017) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm.2017.60 · Cited by 1,588
Hildebrandt, F., Benzing, T., & Katsanis, N. (2011) · New England Journal of Medicine · doi:10.1056/nejmra1010172 · Cited by 1,331
Leber congenital amaurosis: Genes, proteins and disease mechanisms
den Hollander, A. I., Roepman, R., Koenekoop, R. K., & Cremers, F. P. M. (2008) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2008.05.003 · Cited by 811
Ciliopathies: an expanding disease spectrum
Waters, A. M., & Beales, P. L. (2011) · Pediatric Nephrology · doi:10.1007/s00467-010-1731-7 · Cited by 676
Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis
den Hollander, A. I., Koenekoop, R. K., Yzer, S., Lopez, I., Arends, M. L., Voesenek, K. E. J., Zonneveld, M. N., Strom, T. M., Meitinger, T., Brunner, H. G., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/507318 · Cited by 668
Metadata
- Authors
- Valente, E. M., Silhavy, J. L., Brancati, F., Barrano, G., Krishnaswami, S. R., Castori, M., Lancaster, M. A., Boltshauser, E., Boccone, L., Al-Gazali, L., Fazzi, E., Signorini, S., Louie, C. M., Bellacchio, E., Related Disorders Study Group, I. J. S., Bertini, E., Dallapiccola, B., & Gleeson, J. G.
- Venue
- Nature Genetics
- Published
- 2006-05-07
- Volume
- 38
- Issue
- 6
- Pages
- 623-625
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2066041050
- Cited by
- 403
- References
- 2
- FWCI
- 17.67
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. https://app.cochat.ai/papers/10.1038/ng1805
- The paper
- Valente, E. M., Silhavy, J. L., Brancati, F., Barrano, G., Krishnaswami, S. R., Castori, M., Lancaster, M. A., Boltshauser, E., Boccone, L., Al-Gazali, L., Fazzi, E., Signorini, S., Louie, C. M., Bellacchio, E., Related Disorders Study Group, I. J. S., Bertini, E., Dallapiccola, B., & Gleeson, J. G. (2006). Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nature Genetics. https://doi.org/10.1038/ng1805
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.
