The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria
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
Cites
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
Research works printed but not linked: 17
- Barkovich, 1999, Syndromes of bilateral symmetrical polymicrogyria, Am J Neuroradiol, 20, 1814
- Chance, 1999, Clinical nosologic and genetic aspects of Joubert and related syndromes, J Child Neurol, 14, 660, 10.1177/088307389901401007 · DOI
- Gleeson, 2004, Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes, Am J Med Genet, 125A, 125, 10.1002/ajmg.a.20437 · DOI
- Hildebrandt, 1997, A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1, Nat Genet, 17, 149, 10.1038/ng1097-149 · DOI · Paper page
- Jiang, 2002, Ahi-1, a novel gene encoding a modular protein with WD40-repeat and SH3 domains, is targeted by the Ahi-1 and Mis-2 provirus integrations, J Virol, 76, 9046, 10.1128/JVI.76.18.9046-9059.2002 · DOI
- Jiang, 2004, Deregulated expression in Ph+ human leukemias of AHI-1, a gene activated by insertional mutagenesis in mouse models of leukemia, Blood, 103, 3897, 10.1182/blood-2003-11-4026 · DOI
- Keeler, 2003, Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3, Am J Hum Genet, 73, 656, 10.1086/378206 · DOI
- Lagier-Tourenne, 2004, Homozygosity mapping of a third Joubert syndrome locus to 6q23, J Med Genet, 41, 273, 10.1136/jmg.2003.014787 · DOI
- Maria, 1997, “Joubert syndrome” revisited: key ocular motor signs with magnetic resonance imaging correlation, J Child Neurol, 12, 423, 10.1177/088307389701200703 · DOI · Paper page
- Mochizuki, 1998, Cloning of inv, a gene that controls left/right asymmetry and kidney development, Nature, 395, 177, 10.1038/26006 · DOI · Paper page
- Otto, 2003, Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination, Nat Genet, 34, 413, 10.1038/ng1217 · DOI · Paper page
- Parisi, 2004, The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome, Am J Hum Genet, 75, 82, 10.1086/421846 · DOI · Paper page
- Ribacoba Montero, 2002, Bilateral fronto-occipital polymicrogyria and epilepsy, Seizure Suppl, 11, 298
- Saar, 1999, Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity, Am J Hum Genet, 65, 1666, 10.1086/302655 · DOI
- Saraiva, 1992, Joubert syndrome: a review, Am J Med Genet, 43, 726, 10.1002/ajmg.1320430415 · DOI · Paper page
- Satran, 1999, Cerebello-oculo-renal syndromes including Arima, Senior-Loken and COACH syndromes: more than just variants of Joubert syndrome, Am J Med Genet, 86, 459, 10.1002/(SICI)1096-8628(19991029)86:5<459::AID-AJMG12>3.0.CO;2-C · DOI
- Valente, 2003, Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation, Am J Hum Genet, 73, 663, 10.1086/378241 · DOI
Cited by
Hildebrandt, F., Benzing, T., & Katsanis, N. (2011) · New England Journal of Medicine · doi:10.1056/nejmra1010172 · Cited by 1,331
Hamel, C. (2006) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-1-40 · Cited by 962
Identifying autism loci and genes by tracing recent shared ancestry
Morrow, E. M., Yoo, S.-Y., Flavell, S. W., Kim, T.-K., Lin, Y., Hill, R. S., Mukaddes, N. M., Balkhy, S., Gascon, G., Hashmi, A., et al. (2008) · Science · doi:10.1126/science.1157657 · Cited by 737
Ciliopathies: an expanding disease spectrum
Waters, A. M., & Beales, P. L. (2011) · Pediatric Nephrology · doi:10.1007/s00467-010-1731-7 · Cited by 676
Motile and non-motile cilia in human pathology: From function to phenotypes
Mitchison, H. M., & Valente, E. M. (2017) · The Journal of Pathology · doi:10.1002/path.4843 · Cited by 448
Metadata
- Authors
- Dixon-Salazar, T., Silhavy, J. L., Marsh, S. E., Louie, C. M., Scott, L. C., Gururaj, A., Al-Gazali, L., Al-Tawari, A. A., Kayserili, H., Sztriha, L., & Gleeson, J. G.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2004-12
- Volume
- 75
- Issue
- 6
- Pages
- 979-987
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2139913482
- Cited by
- 292
- References
- 1
- FWCI
- 7.91
- Type
- journal article
- Language
- en
- Open access
- bronze
- Licence
- www.elsevier.com/tdm/userlicense/1.0/ (tdm)
- www.elsevier.com/open-access/userlicense/1.0/ (vor, 3152 d)
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: Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria. https://app.cochat.ai/papers/10.1086/425985
- The paper
- Dixon-Salazar, T., Silhavy, J. L., Marsh, S. E., Louie, C. M., Scott, L. C., Gururaj, A., Al-Gazali, L., Al-Tawari, A. A., Kayserili, H., Sztriha, L., & Gleeson, J. G. (2004). Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria. The American Journal of Human Genetics. https://doi.org/10.1086/425985
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.
