The DOI matches its Crossref record; 39 of the 39 references it cites were found in a registry or an index.
A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk
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Citations
Cites
The Metabolic and Molecular Bases of Inherited Disease
Scriver, R. C. (1995) · Medical Entomology and Zoology · Cited by 12,101
A New Statistical Method for Haplotype Reconstruction from Population Data
Stephens, M., Smith, N. J., & Donnelly, P. (2001) · The American Journal of Human Genetics · doi:10.1086/319501 · Cited by 7,493
Initial sequencing and comparative analysis of the mouse genome
Mouse Genome Sequencing Consortium (2002) · Nature · doi:10.1038/nature01262 · Cited by 7,187
The metabolic and molecular bases of inherited disease
Chen, Y.-T. (2001) · Medical Entomology and Zoology · Cited by 6,928
Spielman, R. S., McGinnis, R. E., & Ewens, W. J. (1993) · PubMed · Cited by 3,651
Samson, M., Libert, F., Doranz, B. J., Rucker, J., Liesnard, C., Farber, C.-M., Saragosti, S., Lapouméroulie, C., Cognaux, J., Forceille, C., et al. (1996) · Nature · doi:10.1038/382722a0 · Cited by 2,886
Dean, M., Carrington, M., Winkler, C., Huttley, G. A., Smith, M. W., Allikmets, R., Goedert, J. J., Buchbinder, S. P., Vittinghoff, E., Gomperts, E., et al. (1996) · Science · doi:10.1126/science.273.5283.1856 · Cited by 2,484
The ENCODE (ENCyclopedia Of DNA Elements) Project
(2004) · Science · doi:10.1126/science.1105136 · Cited by 2,390
Sequencing and comparison of yeast species to identify genes and regulatory elements
Kellis, M., Patterson, N., Endrizzi, M., Birren, B., & Lander, E. S. (2003) · Nature · doi:10.1038/nature01644 · Cited by 1,753
Common West African HLA antigens are associated with protection from severe malaria
Hill, A. V. S., Allsopp, C. E. M., Kwiatkowski, D., Anstey, N. M., Twumasi, P., Rowe, P. A., Bennett, S., Brewster, D., McMichael, A. J., & Greenwood, B. M. (1991) · Nature · doi:10.1038/352595a0 · Cited by 1,552
Cited by
A haplotype map of the human genome
The International HapMap Consortium (2005) · Nature · doi:10.1038/nature04226 · Cited by 5,858
Hirschsprung disease, associated syndromes and genetics: a review
Amiel, J., Sproat-Emison, E., Garcia-Barcelo, M., Lantieri, F., Burzynski, G., Borrego, S., Pelet, A., Arnold, S., Miao, X., Griseri, P., et al. (2008) · Journal of Medical Genetics · doi:10.1136/jmg.2007.053959 · Cited by 1,206
Self-citationIn vivo enhancer analysis of human conserved non-coding sequences
Pennacchio, L. A., Ahituv, N., Moses, A. M., Prabhakar, S., Nobrega, M. A., Shoukry, M., Minovitsky, S., Dubchak, I., Holt, A., Lewis, K. D., et al. (2006) · Nature · doi:10.1038/nature05295 · Cited by 1,165
Functional and Mechanistic Diversity of Distal Transcription Enhancers
Bulger, M., & Groudine, M. (2011) · Cell · doi:10.1016/j.cell.2011.01.024 · Cited by 803
Genetics of global gene expression
Rockman, M. V., & Kruglyak, L. (2006) · Nature Reviews Genetics · doi:10.1038/nrg1964 · Cited by 666
Metadata
- Authors
- Emison, E. S., McCallion, A. S., Kashuk, C. S., Bush, R. T., Grice, E., Lin, S., Portnoy, M. E., Cutler, D. J., Green, E. D., & Chakravarti, A.
- Venue
- Nature
- Published
- 2005-04
- Volume
- 434
- Issue
- 7035
- Pages
- 857-863
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W2110554841
- Cited by
- 462
- References
- 39
- FWCI
- 26.47
- Type
- journal article
- Language
- en
- Open access
- closed
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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How to cite
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- This page
- CoChat. (2026). Citation check: A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. https://app.cochat.ai/papers/10.1038/nature03467
- The paper
- Emison, E. S., McCallion, A. S., Kashuk, C. S., Bush, R. T., Grice, E., Lin, S., Portnoy, M. E., Cutler, D. J., Green, E. D., & Chakravarti, A. (2005). A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Nature. https://doi.org/10.1038/nature03467
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.
