The DOI matches its Crossref record; 20 of the 20 references it cites were found in a registry or an index.
Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis
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Citations
Cites
Improved Splice Site Detection in Genie
REESE, M. G., EECKMAN, F. H., KULP, D., & HAUSSLER, D. (1997) · Journal of Computational Biology · doi:10.1089/cmb.1997.4.311 · Cited by 1,567
Improved splice site detection in Genie
Reese, M. G., Eeckman, F. H., Kulp, D., & Haussler, D. (1997) · Proceedings of the first annual international conference on Computational molecular biology - RECOMB '97 · doi:10.1145/267521.267766 · Cited by 1,439
Predictive Identification of Exonic Splicing Enhancers in Human Genes
Fairbrother, W. G., Yeh, R.-F., Sharp, P. A., & Burge, C. B. (2002) · Science · doi:10.1126/science.1073774 · Cited by 1,036
Current Protocols in Human Genetics
(2001) · John Wiley & Sons, Inc. eBooks · doi:10.1002/0471142905 · Cited by 987
Allegro, a new computer program for multipoint linkage analysis
Gudbjartsson, D. F., Jonasson, K., Frigge, M. L., & Kong, A. (2000) · Nature Genetics · doi:10.1038/75514 · Cited by 784
Sayer, J. A., Otto, E. A., O'Toole, J. F., Nurnberg, G., Kennedy, M. A., Becker, C., Hennies, H. C., Helou, J., Attanasio, M., Fausett, B. V., et al. (2006) · Nature Genetics · doi:10.1038/ng1786 · Cited by 570
Cremers, F. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.3.355 · Cited by 548
Self-citationValente, E. M., Silhavy, J. L., Brancati, F., Barrano, G., Krishnaswami, S. R., Castori, M., Lancaster, M. A., Boltshauser, E., Boccone, L., Al-Gazali, L., et al. (2006) · Nature Genetics · doi:10.1038/ng1805 · Cited by 403
Hanein, S., Perrault, I., Gerber, S., Tanguy, G., Barbet, F., Ducroq, D., Calvas, P., Dollfus, H., Hamel, C., Lopponen, T., et al. (2004) · Human Mutation · doi:10.1002/humu.20010 · Cited by 350
Chang, B., Khanna, H., Hawes, N., Jimeno, D., He, S., Lillo, C., Parapuram, S. K., Cheng, H., Scott, A., Hurd, R. E., et al. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl107 · Cited by 328
Cited by
Hildebrandt, F., Benzing, T., & Katsanis, N. (2011) · New England Journal of Medicine · doi:10.1056/nejmra1010172 · Cited by 1,331
Leber congenital amaurosis: Genes, proteins and disease mechanisms
den Hollander, A. I., Roepman, R., Koenekoop, R. K., & Cremers, F. P. M. (2008) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2008.05.003 · Cited by 811
Self-citationDevelopment of a gene-editing approach to restore vision loss in Leber congenital amaurosis type 10
Maeder, M. L., Stefanidakis, M., Wilson, C. J., Baral, R., Barrera, L. A., Bounoutas, G. S., Bumcrot, D., Chao, H., Ciulla, D. M., DaSilva, J. A., et al. (2019) · Nature Medicine · doi:10.1038/s41591-018-0327-9 · Cited by 707
Berbari, N. F., Lewis, J. S., Bishop, G. A., Askwith, C. C., & Mykytyn, K. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0711027105 · Cited by 474
The proteome of the mouse photoreceptor sensory cilium complex
Liu, Q., Tan, G., Levenkova, N., Li, T., Pugh, E. N., Rux, J. J., Speicher, D. W., & Pierce, E. A. (2007) · Molecular & Cellular Proteomics · doi:10.1074/mcp.m700054-mcp200 · Cited by 359
Metadata
- Authors
- den Hollander, A. I., Koenekoop, R. K., Yzer, S., Lopez, I., Arends, M. L., Voesenek, K. E. J., Zonneveld, M. N., Strom, T. M., Meitinger, T., Brunner, H. G., Hoyng, C. B., van den Born, L. I., Rohrschneider, K., & Cremers, F. P. M.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2006-09
- Volume
- 79
- Issue
- 3
- Pages
- 556-561
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2156190275
- Cited by
- 668
- References
- 20
- FWCI
- 13.02
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis. https://app.cochat.ai/papers/10.1086/507318
- The paper
- den Hollander, A. I., Koenekoop, R. K., Yzer, S., Lopez, I., Arends, M. L., Voesenek, K. E. J., Zonneveld, M. N., Strom, T. M., Meitinger, T., Brunner, H. G., Hoyng, C. B., van den Born, L. I., Rohrschneider, K., & Cremers, F. P. M. (2006). Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis. The American Journal of Human Genetics. https://doi.org/10.1086/507318
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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.
