The DOI matches its Crossref record; 30 of the 30 references it cites were found in a registry or an index.
Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23
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Citations
Cites
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Defective myosin VIIA gene responsible for Usher syndrome type IB
Well, D., Blanchard, S., Kaplan, J., Guilford, P., Gibson, F., Walsh, J., Mburu, P., Varela, A., Levilliers, J., Weston, M. D., et al. (1995) · Nature · doi:10.1038/374060a0 · Cited by 1,068
Genetic Epidemiology of Hearing Impairment
MORTON, N. E. (1991) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.1991.tb19572.x · Cited by 944
Nollet, F., Kools, P., & van Roy, F. (2000) · Journal of Molecular Biology · doi:10.1006/jmbi.2000.3777 · Cited by 698
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Verpy, E., Leibovici, M., Zwaenepoel, I., Liu, X.-Z., Gal, A., Salem, N., Mansour, A., Blanchard, S., Kobayashi, I., Keats, B. J. B., et al. (2000) · Nature Genetics · doi:10.1038/79171 · Cited by 471
Self-citationMutations in the myosin VIIA gene cause non-syndromic recessive deafness
Liu, X.-Z., Walsh, J., Mburu, P., Kendrick-Jones, J., Cope, M. J. T. V., Steel, K. P., & Brown, S. D. M. (1997) · Nature Genetics · doi:10.1038/ng0697-188 · Cited by 471
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Hartong, D. T., Berson, E. L., & Dryja, T. P. (2006) · The Lancet · doi:10.1016/s0140-6736(06)69740-7 · Cited by 2,924
Usher syndrome: Animal models, retinal function of Usher proteins, and prospects for gene therapy
Williams, D. S. (2008) · Vision Research · doi:10.1016/j.visres.2007.08.015 · Cited by 188
Triple Vectors Expand AAV Transfer Capacity in the Retina
Maddalena, A., Tornabene, P., Tiberi, P., Minopoli, R., Manfredi, A., Mutarelli, M., Rossi, S., Simonelli, F., Naggert, J. K., Cacchiarelli, D., et al. (2018) · Molecular Therapy · doi:10.1016/j.ymthe.2017.11.019 · Cited by 128
Xie, Y. (., Lee, W., Cai, C., Gambin, T., Nõupuu, K., Sujirakul, T., Ayuso, C., Jhangiani, S., Muzny, D., Boerwinkle, E., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu291 · Cited by 40
Metadata
- Authors
- Bork, J. M., Peters, L. M., Riazuddin, S., Bernstein, S. L., Ahmed, Z. M., Ness, S. L., Polomeno, R., Ramesh, A., Schloss, M., Srisailpathy, C. R. S., Wayne, S., Bellman, S., Desmukh, D., Ahmed, Z., Khan, S. N., Kaloustian, V. M. D., Li, X. C., Lalwani, A., Riazuddin, S., Bitner-Glindzicz, M., Nance, W. E., Liu, X.-Z., Wistow, G., Smith, R. J. H., Griffith, A. J., Wilcox, E. R., Friedman, T. B., & Morell, R. J.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2001-01
- Volume
- 68
- Issue
- 1
- Pages
- 26-37
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2038502254
- Cited by
- 555
- References
- 30
- FWCI
- 19.92
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23. https://app.cochat.ai/papers/10.1086/316954
- The paper
- Bork, J. M., Peters, L. M., Riazuddin, S., Bernstein, S. L., Ahmed, Z. M., Ness, S. L., Polomeno, R., Ramesh, A., Schloss, M., Srisailpathy, C. R. S., Wayne, S., Bellman, S., Desmukh, D., Ahmed, Z., Khan, S. N., Kaloustian, V. M. D., Li, X. C., Lalwani, A., Riazuddin, S., . . . Morell, R. J. (2001). Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23. The American Journal of Human Genetics. https://doi.org/10.1086/316954
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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.
