The DOI matches its Crossref record.
Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome
Open accessOverview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cited by
Hartong, D. T., Berson, E. L., & Dryja, T. P. (2006) · The Lancet · doi:10.1016/s0140-6736(06)69740-7 · Cited by 2,924
The Human Obesity Gene Map: The 2005 Update
Rankinen, T., Zuberi, A., Chagnon, Y. C., Weisnagel, S. J., Argyropoulos, G., Walts, B., Pérusse, L., & Bouchard, C. (2006) · Obesity · doi:10.1038/oby.2006.71 · Cited by 1,119
LOVD v.2.0: the next generation in gene variant databases
Fokkema, I. F. A. C., Taschner, P. E. M., Schaafsma, G. C. P., Celli, J., Laros, J. F. J., & den Dunnen, J. T. (2011) · Human Mutation · doi:10.1002/humu.21438 · Cited by 1,048
Li, J. B., Gerdes, J. M., Haycraft, C. J., Fan, Y., Teslovich, T. M., May-Simera, H., Li, H., Blacque, O. E., Li, L., Leitch, C. C., et al. (2004) · Cell · doi:10.1016/s0092-8674(04)00450-7 · Cited by 760
Self-citationThe Primary Cilium as a Complex Signaling Center
Berbari, N. F., O'Connor, A. K., Haycraft, C. J., & Yoder, B. K. (2009) · Current Biology · doi:10.1016/j.cub.2009.05.025 · Cited by 621
Metadata
- Authors
- Beales, P. L., Badano, J. L., Ross, A. J., Ansley, S. J., Hoskins, B. E., Kirsten, B., Mein, C. A., Froguel, P., Scambler, P. J., Lewis, R. A., Lupski, J. R., & Katsanis, N.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2003-05
- Volume
- 72
- Issue
- 5
- Pages
- 1187-1199
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2112897062
- Cited by
- 266
- References
- 0
- FWCI
- 7.70
- Type
- journal article
- Language
- en
- Open access
- bronze
About these checks
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.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome. https://app.cochat.ai/papers/10.1086/375178
- The paper
- Beales, P. L., Badano, J. L., Ross, A. J., Ansley, S. J., Hoskins, B. E., Kirsten, B., Mein, C. A., Froguel, P., Scambler, P. J., Lewis, R. A., Lupski, J. R., & Katsanis, N. (2003). Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome. The American Journal of Human Genetics. https://doi.org/10.1086/375178
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.