The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82
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Citations
Cites
Exome sequencing identifies the cause of a mendelian disorder
Ng, S. B., Buckingham, K. J., Lee, C., Bigham, A. W., Tabor, H. K., Dent, K. M., Huff, C. D., Shannon, P. T., Jabs, E. W., Nickerson, D. A., et al. (2010) · Nature Genetics · doi:10.1038/ng.499 · Cited by 1,957
Cited by
Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy
Navon Elkan, P., Pierce, S. B., Segel, R., Walsh, T., Barash, J., Padeh, S., Zlotogorski, A., Berkun, Y., Press, J. J., Mukamel, M., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1307362 · Cited by 710
Self-citationThe impact of next-generation sequencing on genomics
Zhang, J., Chiodini, R., Badr, A., & Zhang, G. (2011) · Journal of Genetics and Genomics · doi:10.1016/j.jgg.2011.02.003 · Cited by 577
“Other genetic loci for rare diseases have also been successfully identified through exome sequencing (Bilguvar et al., 2010; Ng et al., 2010a,b; Rios et al., 2010; Walsh et al., 2010), further validating this strategy.”
BackgroundGulsuner, S., Walsh, T., Watts, A. C., Lee, M. K., Thornton, A. M., Casadei, S., Rippey, C., Shahin, H., Braff, D., Cadenhead, K. S., et al. (2013) · Cell · doi:10.1016/j.cell.2013.06.049 · Cited by 536
Self-citationByun, M., Abhyankar, A., Lelarge, V., Plancoulaine, S., Palanduz, A., Telhan, L., Boisson, B., Picard, C., Dewell, S., Zhao, C., et al. (2010) · Journal of Experimental Medicine · doi:10.1084/jem.20101597 · Cited by 299
Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases
Puffenberger, E. G., Jinks, R. N., Sougnez, C., Cibulskis, K., Willert, R. A., Achilly, N. P., Cassidy, R. P., Fiorentini, C. J., Heiken, K. F., Lawrence, J. J., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0028936 · Cited by 286
Metadata
- Authors
- Walsh, T., Shahin, H., Elkan-Miller, T., Lee, M. K., Thornton, A. M., Roeb, W., Abu Rayyan, A., Loulus, S., Avraham, K. B., King, M.-C., & Kanaan, M.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2010-07
- Volume
- 87
- Issue
- 1
- Pages
- 90-94
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2039783092
- Cited by
- 283
- References
- 1
- FWCI
- 23.99
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82. https://app.cochat.ai/papers/10.1016/j.ajhg.2010.05.010
- The paper
- Walsh, T., Shahin, H., Elkan-Miller, T., Lee, M. K., Thornton, A. M., Roeb, W., Abu Rayyan, A., Loulus, S., Avraham, K. B., King, M.-C., & Kanaan, M. (2010). Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2010.05.010
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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.
