The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome
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Citations
Cites
The Guanine Nucleotide-Binding Switch in Three Dimensions
Vetter, I. R., & Wittinghofer, A. (2001) · Science · doi:10.1126/science.1062023 · Cited by 1,875
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
Ftm is a novel basal body protein of cilia involved in Shh signalling
Vierkotten, J., Dildrop, R., Peters, T., Wang, B., & Rüther, U. (2007) · Development · doi:10.1242/dev.003715 · Cited by 201
Cited by
The primary cilium: a signalling centre during vertebrate development
Goetz, S. C., & Anderson, K. V. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2774 · Cited by 1,824
Hildebrandt, F., Benzing, T., & Katsanis, N. (2011) · New England Journal of Medicine · doi:10.1056/nejmra1010172 · Cited by 1,331
Self-citationCiliopathies: an expanding disease spectrum
Waters, A. M., & Beales, P. L. (2011) · Pediatric Nephrology · doi:10.1007/s00467-010-1731-7 · Cited by 676
Primary Cilia and Mammalian Hedgehog Signaling
Bangs, F., & Anderson, K. V. (2017) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a028175 · Cited by 642
Signaling through the Primary Cilium
Wheway, G., Nazlamova, L., & Hancock, J. T. (2018) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2018.00008 · Cited by 483
Metadata
- Authors
- Cantagrel, V., Silhavy, J. L., Bielas, S. L., Swistun, D., Marsh, S. E., Bertrand, J. Y., Audollent, S., Attié-Bitach, T., Holden, K. R., Dobyns, W. B., Traver, D., Al-Gazali, L., Ali, B. R., Lindner, T. H., Caspary, T., Otto, E. A., Hildebrandt, F., Glass, I. A., Logan, C. V., Johnson, C. A., Bennett, C., Brancati, F., Valente, E. M., Woods, C. G., & Gleeson, J. G.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2008-08
- Volume
- 83
- Issue
- 2
- Pages
- 170-179
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2099008080
- Cited by
- 390
- References
- 3
- FWCI
- 13.01
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome. https://app.cochat.ai/papers/10.1016/j.ajhg.2008.06.023
- The paper
- Cantagrel, V., Silhavy, J. L., Bielas, S. L., Swistun, D., Marsh, S. E., Bertrand, J. Y., Audollent, S., Attié-Bitach, T., Holden, K. R., Dobyns, W. B., Traver, D., Al-Gazali, L., Ali, B. R., Lindner, T. H., Caspary, T., Otto, E. A., Hildebrandt, F., Glass, I. A., Logan, C. V., . . . Gleeson, J. G. (2008). Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2008.06.023
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.
