The DOI matches its Crossref record; 29 of the 29 references it cites were found in a registry or an index.
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome
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Citations
Cites
Predicting Deleterious Amino Acid Substitutions
Ng, P. C., & Henikoff, S. (2001) · Genome Research · doi:10.1101/gr.176601 · Cited by 2,368
Human non-synonymous SNPs: server and survey
Ramensky, V. (2002) · Nucleic Acids Research · doi:10.1093/nar/gkf493 · Cited by 2,280
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
Self-citationSayer, J. A., Otto, E. A., O'Toole, J. F., Nurnberg, G., Kennedy, M. A., Becker, C., Hennies, H. C., Helou, J., Attanasio, M., Fausett, B. V., et al. (2006) · Nature Genetics · doi:10.1038/ng1786 · Cited by 570
Self-citationAbnormal 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
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., et al. (2006) · Nature Genetics · doi:10.1038/ng1805 · Cited by 403
Banizs, B., Pike, M. M., Millican, C. L., Ferguson, W. B., Komlosi, P., Sheetz, J., Bell, P. D., Schwiebert, E. M., & Yoder, B. K. (2005) · Development · doi:10.1242/dev.02153 · Cited by 400
Otto, E. A., Loeys, B., Khanna, H., Hellemans, J., Sudbrak, R., Fan, S., Muerb, U., O'Toole, J. F., Helou, J., Attanasio, M., et al. (2005) · Nature Genetics · doi:10.1038/ng1520 · Cited by 398
Microtubule minus-end anchorage at centrosomal and non-centrosomal sites: the role of ninein
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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
Chapter Two Intraflagellar Transport (IFT)
Pedersen, L. B., & Rosenbaum, J. L. (2008) · Current Topics in Developmental Biology · doi:10.1016/s0070-2153(08)00802-8 · Cited by 521
Primary cilia are required for cerebellar development and Shh-dependent expansion of progenitor pool
Spassky, N., Han, Y.-G., Aguilar, A., Strehl, L., Besse, L., Laclef, C., Romaguera Ros, M., Garcia-Verdugo, J. M., & Alvarez-Buylla, A. (2008) · Developmental Biology · doi:10.1016/j.ydbio.2008.02.026 · Cited by 314
Bergmann, C., Fliegauf, M., Brüchle, N. O., Frank, V., Olbrich, H., Kirschner, J., Schermer, B., Schmedding, I., Kispert, A., Kränzlin, B., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.02.017 · Cited by 324
Metadata
- Authors
- Arts, H. H., Doherty, D., van Beersum, S. E. C., Parisi, M. A., Letteboer, S. J. F., Gorden, N. T., Peters, T. A., Märker, T., Voesenek, K., Kartono, A., Ozyurek, H., Farin, F. M., Kroes, H. Y., Wolfrum, U., Brunner, H. G., Cremers, F. P. M., Glass, I. A., Knoers, N. V. A. M., & Roepman, R.
- Venue
- Nature Genetics
- Published
- 2007-06-10
- Volume
- 39
- Issue
- 7
- Pages
- 882-888
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2015234820
- Cited by
- 317
- References
- 29
- FWCI
- 17.08
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. https://app.cochat.ai/papers/10.1038/ng2069
- The paper
- Arts, H. H., Doherty, D., van Beersum, S. E. C., Parisi, M. A., Letteboer, S. J. F., Gorden, N. T., Peters, T. A., Märker, T., Voesenek, K., Kartono, A., Ozyurek, H., Farin, F. M., Kroes, H. Y., Wolfrum, U., Brunner, H. G., Cremers, F. P. M., Glass, I. A., Knoers, N. V. A. M., & Roepman, R. (2007). Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nature Genetics. https://doi.org/10.1038/ng2069
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.
