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
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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
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- 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
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- 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
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Cited by
Hildebrandt, F., Benzing, T., & Katsanis, N. (2011) · New England Journal of Medicine · doi:10.1056/nejmra1010172 · Cited by 1,331
A developmental and genetic classification for malformations of cortical development: update 2012
Barkovich, A. J., Guerrini, R., Kuzniecky, R. I., Jackson, G. D., & Dobyns, W. B. (2012) · Brain · doi:10.1093/brain/aws019 · Cited by 1,104
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
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)
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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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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.
