The DOI matches its Crossref record.
A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution
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Citations
Cited by
Hildebrandt, F., Benzing, T., & Katsanis, N. (2011) · New England Journal of Medicine · doi:10.1056/nejmra1010172 · Cited by 1,331
Self-citationThe Ciliopathies: An Emerging Class of Human Genetic Disorders
Badano, J. L., Mitsuma, N., Beales, P. L., & Katsanis, N. (2006) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.7.080505.115610 · Cited by 1,144
Ciliopathies: an expanding disease spectrum
Waters, A. M., & Beales, P. L. (2011) · Pediatric Nephrology · doi:10.1007/s00467-010-1731-7 · Cited by 676
Hinkes, B. G., Mucha, B., Vlangos, C. N., Gbadegesin, R., Liu, J., Hasselbacher, K., Hangan, D., Ozaltin, F., Zenker, M., Hildebrandt, F., et al. (2007) · Pediatrics · doi:10.1542/peds.2006-2164 · Cited by 444
Self-citationRuf, R. G., Lichtenberger, A., Karle, S. M., Haas, J. P., Anacleto, F. E., Schultheiss, M., Zalewski, I., Imm, A., Ruf, E.-M., Mucha, B., et al. (2004) · Journal of the American Society of Nephrology · doi:10.1097/01.asn.0000113552.59155.72 · Cited by 417
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Metadata
- Authors
- Otto, E., Hoefele, J., Ruf, R., Mueller, A. M., Hiller, K. S., Wolf, M. T. F., Schuermann, M. J., Becker, A., Birkenhäger, R., Sudbrak, R., Hennies, H. C., Nürnberg, P., & Hildebrandt, F.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2002-11
- Volume
- 71
- Issue
- 5
- Pages
- 1161-1167
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2003260901
- Cited by
- 208
- References
- 0
- FWCI
- 7.84
- Type
- journal article
- Language
- en
- Open access
- bronze
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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- This page
- CoChat. (2026). Citation check: A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution. https://app.cochat.ai/papers/10.1086/344395
- The paper
- Otto, E., Hoefele, J., Ruf, R., Mueller, A. M., Hiller, K. S., Wolf, M. T. F., Schuermann, M. J., Becker, A., Birkenhäger, R., Sudbrak, R., Hennies, H. C., Nürnberg, P., & Hildebrandt, F. (2002). A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution. The American Journal of Human Genetics. https://doi.org/10.1086/344395
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.
