The DOI matches its Crossref record; 30 of the 30 references it cites were found in a registry or an index.
Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
A simple salting out procedure for extracting DNA from human nucleated cells
Miller, S. A., Dykes, D. D., & Polesky, H. F. (1988) · Nucleic Acids Research · doi:10.1093/nar/16.3.1215 · Cited by 20,330
The Metabolic and Molecular Bases of Inherited Disease
Scriver, R. C. (1995) · Medical Entomology and Zoology · Cited by 12,101
<tt>BLAT</tt> —The <tt>BLAST</tt> -Like Alignment Tool
Kent, W. J. (2002) · Genome Research · doi:10.1101/gr.229202 · Cited by 8,480
Massagué, J. (1998) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.67.1.753 · Cited by 7,556
The metabolic and molecular bases of inherited disease
Chen, Y.-T. (2001) · Medical Entomology and Zoology · Cited by 6,928
Consed: A Graphical Tool for Sequence Finishing
Gordon, D., Abajian, C., & Green, P. (1998) · Genome Research · doi:10.1101/gr.8.3.195 · Cited by 3,302
Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A
Mulligan, L. M., Kwok, J. B. J., Healey, C. S., Elsdon, M. J., Eng, C., Gardner, E., Love, D. R., Mole, S. E., Moore, J. K., Papi, L., et al. (1993) · Nature · doi:10.1038/363458a0 · Cited by 1,966
A second-generation linkage map of the human genome
Weissenbach, J., Gyapay, G., Dib, C., Vignal, A., Morissette, J., Millasseau, P., Vaysseix, G., & Lathrop, M. (1992) · Nature · doi:10.1038/359794a0 · Cited by 1,685
Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret
Schuchardt, A., D'Agati, V., Larsson-Blomberg, L., Costantini, F., & Pachnis, V. (1994) · Nature · doi:10.1038/367380a0 · Cited by 1,614
Prenzel, N., Zwick, E., Daub, H., Leserer, M., Abraham, R., Wallasch, C., & Ullrich, A. (1999) · Nature · doi:10.1038/47260 · Cited by 1,504
Cited by
The mystery of missing heritability: Genetic interactions create phantom heritability
Zuk, O., Hechter, E., Sunyaev, S. R., & Lander, E. S. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1119675109 · Cited by 1,542
Heanue, T. A., & Pachnis, V. (2007) · Nature Reviews Neuroscience · doi:10.1038/nrn2137 · Cited by 527
A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk
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) · Nature · doi:10.1038/nature03467 · Cited by 462
Self-citationMolecular mechanisms of epistasis within and between genes
Lehner, B. (2011) · Trends in Genetics · doi:10.1016/j.tig.2011.05.007 · Cited by 326
Matsuzaki, H., Loi, H., Dong, S., Tsai, Y.-Y., Fang, J., Law, J., Di, X., Liu, W.-M., Yang, G., Liu, G., et al. (2004) · Genome Research · doi:10.1101/gr.2014904 · Cited by 320
Metadata
- Authors
- Carrasquillo, M. M., McCallion, A. S., Puffenberger, E. G., Kashuk, C. S., Nouri, N., & Chakravarti, A.
- Venue
- Nature Genetics
- Published
- 2002-09-23
- Volume
- 32
- Issue
- 2
- Pages
- 237-244
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2020066516
- Cited by
- 288
- References
- 30
- FWCI
- 23.29
- Type
- journal article
- Language
- en
- Open access
- closed
About these checks
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.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease. https://app.cochat.ai/papers/10.1038/ng998
- The paper
- Carrasquillo, M. M., McCallion, A. S., Puffenberger, E. G., Kashuk, C. S., Nouri, N., & Chakravarti, A. (2002). Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease. Nature Genetics. https://doi.org/10.1038/ng998
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.
