The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
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Citations
Cites
Cilia and Hedgehog responsiveness in the mouse
Huangfu, D., & Anderson, K. V. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0505328102 · Cited by 820
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
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
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
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
The Vertebrate Primary Cilium in Development, Homeostasis, and Disease
Gerdes, J. M., Davis, E. E., & Katsanis, N. (2009) · Cell · doi:10.1016/j.cell.2009.03.023 · Cited by 706
Metadata
- Authors
- Delous, M., Baala, L., Salomon, R., Laclef, C., Vierkotten, J., Tory, K., Golzio, C., Lacoste, T., Besse, L., Ozilou, C., Moutkine, I., Hellman, N. E., Anselme, I., Silbermann, F., Vesque, C., Gerhardt, C., Rattenberry, E., Wolf, M. T. F., Gubler, M. C., Martinovic, J., Encha-Razavi, F., Boddaert, N., Gonzales, M., Macher, M. A., Nivet, H., Champion, G., Berthélémé, J. P., Niaudet, P., McDonald, F., Hildebrandt, F., Johnson, C. A., Vekemans, M., Antignac, C., Rüther, U., Schneider-Maunoury, S., Attié-Bitach, T., & Saunier, S.
- Venue
- Nature Genetics
- Published
- 2007-06-10
- Volume
- 39
- Issue
- 7
- Pages
- 875-881
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2050281909
- Cited by
- 495
- References
- 2
- FWCI
- 24.11
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. https://app.cochat.ai/papers/10.1038/ng2039
- The paper
- Delous, M., Baala, L., Salomon, R., Laclef, C., Vierkotten, J., Tory, K., Golzio, C., Lacoste, T., Besse, L., Ozilou, C., Moutkine, I., Hellman, N. E., Anselme, I., Silbermann, F., Vesque, C., Gerhardt, C., Rattenberry, E., Wolf, M. T. F., Gubler, M. C., . . . Saunier, S. (2007). The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nature Genetics. https://doi.org/10.1038/ng2039
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.
