The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Mutations of the Protocadherin Gene PCDH15 Cause Usher Syndrome Type 1F
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Citations
Cites
Base-Calling of Automated Sequencer Traces Using Phred. II. Error Probabilities
Ewing, B., & Green, P. (1998) · Genome Research · doi:10.1101/gr.8.3.186 · Cited by 5,439
Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice
Liu, X., Ondek, B., & Williams, D. S. (1998) · Nature Genetics · doi:10.1038/470 · Cited by 168
Cited by
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
Dibbens, L. M., Tarpey, P. S., Hynes, K., Bayly, M. A., Scheffer, I. E., Smith, R., Bomar, J., Sutton, E., Vandeleur, L., Shoubridge, C., et al. (2008) · Nature Genetics · doi:10.1038/ng.149 · Cited by 451
Tricellulin is a tight-junction protein necessary for hearing
Riazuddin, S., Ahmed, Z. M., Fanning, A. S., Lagziel, A., Kitajiri, S.-I., Ramzan, K., Khan, S. N., Chattaraj, P., Friedman, P. L., Anderson, J. M., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/510022 · Cited by 283
Self-citationPhotoreceptor Cilia and Retinal Ciliopathies
Bujakowska, K. M., Liu, Q., & Pierce, E. A. (2017) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a028274 · Cited by 194
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
Metadata
- Authors
- Ahmed, Z. M., Riazuddin, S., Bernstein, S. L., Ahmed, Z., Khan, S., Griffith, A. J., Morell, R. J., Friedman, T. B., Riazuddin, S., & Wilcox, E. R.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2001-07
- Volume
- 69
- Issue
- 1
- Pages
- 25-34
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2031814390
- Cited by
- 415
- References
- 2
- FWCI
- 8.79
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Mutations of the Protocadherin Gene PCDH15 Cause Usher Syndrome Type 1F. https://app.cochat.ai/papers/10.1086/321277
- The paper
- Ahmed, Z. M., Riazuddin, S., Bernstein, S. L., Ahmed, Z., Khan, S., Griffith, A. J., Morell, R. J., Friedman, T. B., Riazuddin, S., & Wilcox, E. R. (2001). Mutations of the Protocadherin Gene PCDH15 Cause Usher Syndrome Type 1F. The American Journal of Human Genetics. https://doi.org/10.1086/321277
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.
