The DOI matches its Crossref record; 75 of the 75 references it cites were found in a registry or an index.
Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4
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Citations
Cites
Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization.
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Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
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Hirschsprung disease, associated syndromes and genetics: a review
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Self-citationBowles, J., Schepers, G., & Koopman, P. (2000) · Developmental Biology · doi:10.1006/dbio.2000.9883 · Cited by 966
The transcription factor Sox10 is a key regulator of peripheral glial development
Britsch, S., Goerich, D. E., Riethmacher, D., Peirano, R. I., Rossner, M., Nave, K.-A., Birchmeier, C., & Wegner, M. (2001) · Genes & Development · doi:10.1101/gad.186601 · Cited by 914
From head to toes: the multiple facets of Sox proteins
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A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's disease
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Cited by
Analysis of early human neural crest development
Betters, E., Liu, Y., Kjaeldgaard, A., Sundström, E., & García-Castro, M. I. (2010) · Developmental Biology · doi:10.1016/j.ydbio.2010.05.012 · Cited by 181
Pleiotropic effects of coat colour-associated mutations in humans, mice and other mammals
Reissmann, M., & Ludwig, A. (2013) · Seminars in Cell & Developmental Biology · doi:10.1016/j.semcdb.2013.03.014 · Cited by 149
Shakhova, O., Cheng, P., Mishra, P. J., Zingg, D., Schaefer, S. M., Debbache, J., Häusel, J., Matter, C., Guo, T., Davis, S., et al. (2015) · PLOS Genetics · doi:10.1371/journal.pgen.1004877 · Cited by 111
TFAP2 paralogs regulate melanocyte differentiation in parallel with MITF
Seberg, H. E., Van Otterloo, E., Loftus, S. K., Liu, H., Bonde, G., Sompallae, R., Gildea, D. E., Santana, J. F., Manak, J. R., Pavan, W. J., et al. (2017) · PLOS Genetics · doi:10.1371/journal.pgen.1006636 · Cited by 85
A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy
Matera, I., Watkins-Chow, D. E., Loftus, S. K., Hou, L., Incao, A., Silver, D. L., Rivas, C., Elliott, E. C., Baxter, L. L., & Pavan, W. J. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn110 · Cited by 60
Metadata
- Authors
- Bondurand, N., Dastot-Le Moal, F., Stanchina, L., Collot, N., Baral, V., Marlin, S., Attie-Bitach, T., Giurgea, I., Skopinski, L., Reardon, W., Toutain, A., Sarda, P., Echaieb, A., Lackmy-Port-Lis, M., Touraine, R., Amiel, J., Goossens, M., & Pingault, V.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2007-12
- Volume
- 81
- Issue
- 6
- Pages
- 1169-1185
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2035079223
- Cited by
- 261
- References
- 75
- FWCI
- 10.40
- Type
- journal article
- Language
- en
- Open access
- bronze
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- This page
- CoChat. (2026). Citation check: Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4. https://app.cochat.ai/papers/10.1086/522090
- The paper
- Bondurand, N., Dastot-Le Moal, F., Stanchina, L., Collot, N., Baral, V., Marlin, S., Attie-Bitach, T., Giurgea, I., Skopinski, L., Reardon, W., Toutain, A., Sarda, P., Echaieb, A., Lackmy-Port-Lis, M., Touraine, R., Amiel, J., Goossens, M., & Pingault, V. (2007). Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4. The American Journal of Human Genetics. https://doi.org/10.1086/522090
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.
