The DOI matches its Crossref record; 49 of the 49 references it cites were found in a registry or an index.
Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations
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Citations
Cites
Estimate of the Mutation Rate per Nucleotide in Humans
Nachman, M. W., & Crowell, S. L. (2000) · Genetics · doi:10.1093/genetics/156.1.297 · Cited by 1,209
Digenic Retinitis Pigmentosa Due to Mutations at the Unlinked Peripherin/ RDS and ROM1 Loci
Kajiwara, K., Berson, E. L., & Dryja, T. P. (1994) · Science · doi:10.1126/science.8202715 · Cited by 775
Acampora, D., Mazan, S., Lallemand, Y., Avantaggiato, V., Maury, M., Simeone, A., & Brûlet, P. (1995) · Development · doi:10.1242/dev.121.10.3279 · Cited by 702
Mouse Otx2 functions in the formation and patterning of rostral head.
Matsuo, I., Kuratani, S., Kimura, C., Takeda, N., & Aizawa, S. (1995) · Genes & Development · doi:10.1101/gad.9.21.2646 · Cited by 690
Simeone, A., Acampora, D., Mallamaci, A., Stornaiuolo, A., D'Apice, M. R., Nigro, V., & Boncinelli, E. (1993) · The EMBO Journal · doi:10.1002/j.1460-2075.1993.tb05935.x · Cited by 617
Otx2 homeobox gene controls retinal photoreceptor cell fate and pineal gland development
Nishida, A., Furukawa, A., Koike, C., Tano, Y., Aizawa, S., Matsuo, I., & Furukawa, T. (2003) · Nature Neuroscience · doi:10.1038/nn1155 · Cited by 604
Nonsense-mediated decay approaches the clinic
Holbrook, J. A., Neu-Yilik, G., Hentze, M. W., & Kulozik, A. E. (2004) · Nature Genetics · doi:10.1038/ng1403 · Cited by 596
Freund, C. L., Gregory-Evans, C. Y., Furukawa, T., Papaioannou, M., Looser, J., Ploder, L., Bellingham, J., Ng, D., Herbrick, J.-A. S., Duncan, A., et al. (1997) · Cell · doi:10.1016/s0092-8674(00)80440-7 · Cited by 565
Specification of the vertebrate eye by a network of eye field transcription factors
Zuber, M. E., Gestri, G., Viczian, A. S., Barsacchi, G., & Harris, W. A. (2003) · Development · doi:10.1242/dev.00723 · Cited by 539
Mutations in SOX2 cause anophthalmia
Fantes, J., Ragge, N. K., Lynch, S.-A., McGill, N. I., Collin, J. R. O., Howard-Peebles, P. N., Hayward, C., Vivian, A. J., Williamson, K., van Heyningen, V., et al. (2003) · Nature Genetics · doi:10.1038/ng1120 · Cited by 537
Self-citation
Cited by
Regulation of photoreceptor gene expression by Crx-associated transcription factor network
Hennig, A. K., Peng, G.-H., & Chen, S. (2008) · Brain Research · doi:10.1016/j.brainres.2007.06.036 · Cited by 214
Golzio, C., Martinovic-Bouriel, J., Thomas, S., Mougou-Zrelli, S., Grattagliano-Bessières, B., Bonnière, M., Delahaye, S., Munnich, A., Encha-Razavi, F., Lyonnet, S., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/518177 · Cited by 198
Graded Otx2 activities demonstrate dose-sensitive eye and retina phenotypes
Bernard, C., Kim, H.-T., Torero Ibad, R., Lee, E. J., Simonutti, M., Picaud, S., Acampora, D., Simeone, A., Di Nardo, A. A., Prochiantz, A., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddt562 · Cited by 39
Metadata
- Authors
- Ragge, N. K., Brown, A. G., Poloschek, C. M., Lorenz, B., Henderson, R. A., Clarke, M. P., Russell-Eggitt, I., Fielder, A., Gerrelli, D., Martinez-Barbera, J. P., Ruddle, P., Hurst, J., Collin, J. R. O., Salt, A., Cooper, S. T., Thompson, P. J., Sisodiya, S. M., Williamson, K. A., FitzPatrick, D. R., Heyningen, V. V., & Hanson, I. M.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2005-06
- Volume
- 76
- Issue
- 6
- Pages
- 1008-1022
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2105691494
- Cited by
- 310
- References
- 49
- FWCI
- 7.23
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations. https://app.cochat.ai/papers/10.1086/430721
- The paper
- Ragge, N. K., Brown, A. G., Poloschek, C. M., Lorenz, B., Henderson, R. A., Clarke, M. P., Russell-Eggitt, I., Fielder, A., Gerrelli, D., Martinez-Barbera, J. P., Ruddle, P., Hurst, J., Collin, J. R. O., Salt, A., Cooper, S. T., Thompson, P. J., Sisodiya, S. M., Williamson, K. A., FitzPatrick, D. R., . . . Hanson, I. M. (2005). Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations. The American Journal of Human Genetics. https://doi.org/10.1086/430721
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.
