The DOI matches its Crossref record; 31 of the 31 references it cites were found in a registry or an index.
Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy
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Cites
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Global variation in copy number in the human genome
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Strong association of de novo copy number mutations with autism
Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., et al. (2007) · Science · doi:10.1126/science.1138659 · Cited by 2,795
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
The Autism Genome Project Consortium (2007) · Nature Genetics · doi:10.1038/ng1985 · Cited by 1,402
High-Resolution Mapping of Human Chromosome 11 by in Situ Hybridization with Cosmid Clones
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Segmental Duplications and Copy-Number Variation in the Human Genome
Sharp, A. J., Locke, D. P., McGrath, S. D., Cheng, Z., Bailey, J. A., Vallente, R. U., Pertz, L. M., Clark, R. A., Schwartz, S., Segraves, R., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/431652 · Cited by 972
Self-citationGenome architecture, rearrangements and genomic disorders
Stankiewicz, P., & Lupski, J. R. (2002) · Trends in Genetics · doi:10.1016/s0168-9525(02)02592-1 · Cited by 925
Mutation in hepatocyte nuclear factor–1β gene (TCF2) associated with MODY
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Cited by
A genomic mutational constraint map using variation in 76,156 human genomes
Chen, S., Francioli, L. C., Goodrich, J. K., Collins, R. L., Kanai, M., Wang, Q., Alföldi, J., Watts, N. A., Vittal, C., Gauthier, L. D., et al. (2024) · Nature · doi:10.1038/s41586-023-06045-0 · Cited by 1,727
A copy number variation morbidity map of developmental delay
Cooper, G. M., Coe, B. P., Girirajan, S., Rosenfeld, J. A., Vu, T. H., Baker, C., Williams, C., Stalker, H., Hamid, R., Hannig, V., et al. (2011) · Nature Genetics · doi:10.1038/ng.909 · Cited by 1,351
Self-citationCopy number variation in human health, disease, and evolution
Zhang, F., Gu, W., Hurles, M. E., & Lupski, J. R. (2009) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.9.081307.164217 · Cited by 1,207
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
Mefford, H. C., Sharp, A. J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V. K., Crolla, J. A., Baralle, D., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0805384 · Cited by 804
Self-citationMechanisms for human genomic rearrangements
Gu, W., Zhang, F., & Lupski, J. R. (2008) · PathoGenetics · doi:10.1186/1755-8417-1-4 · Cited by 710
Metadata
- Authors
- Mefford, H. C., Clauin, S., Sharp, A. J., Moller, R. S., Ullmann, R., Kapur, R., Pinkel, D., Cooper, G. M., Ventura, M., Ropers, H. H., Tommerup, N., Eichler, E. E., & Bellanne-Chantelot, C.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2007-11
- Volume
- 81
- Issue
- 5
- Pages
- 1057-1069
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W1981504013
- Cited by
- 268
- References
- 31
- FWCI
- 9.71
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy. https://app.cochat.ai/papers/10.1086/522591
- The paper
- Mefford, H. C., Clauin, S., Sharp, A. J., Moller, R. S., Ullmann, R., Kapur, R., Pinkel, D., Cooper, G. M., Ventura, M., Ropers, H. H., Tommerup, N., Eichler, E. E., & Bellanne-Chantelot, C. (2007). Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy. The American Journal of Human Genetics. https://doi.org/10.1086/522591
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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.
