The DOI matches its Crossref record; 112 of the 112 references it cites were found in a registry or an index.
Multiple Hits during Early Embryonic Development: Digenic Diseases and Holoprosencephaly
Open accessOverview
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
The Metabolic and Molecular Bases of Inherited Disease
Scriver, R. C. (1995) · Medical Entomology and Zoology · Cited by 12,101
The metabolic and molecular bases of inherited disease
Chen, Y.-T. (2001) · Medical Entomology and Zoology · Cited by 6,928
Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function
Chiang, C., Litingtung, Y., Lee, E., Young, K. E., Corden, J. L., Westphal, H., & Beachy, P. A. (1996) · Nature · doi:10.1038/383407a0 · Cited by 3,062
Lammer, E. J., Chen, D. T., Hoar, R. M., Agnish, N. D., Benke, P. J., Braun, J. T., Curry, C. J., Fernhoff, P. M., Grix, A. W., Lott, I. T., et al. (1985) · New England Journal of Medicine · doi:10.1056/nejm198510033131401 · Cited by 1,942
Cholesterol Modification of Hedgehog Signaling Proteins in Animal Development
Porter, J. A., Young, K. E., & Beachy, P. A. (1996) · Science · doi:10.1126/science.274.5285.255 · Cited by 1,360
Effects of oncogenic mutations in Smoothened and Patched can be reversed by cyclopamine
Taipale, J., Chen, J. K., Cooper, M. K., Wang, B., Mann, R. K., Milenkovic, L., Scott, M. P., & Beachy, P. A. (2000) · Nature · doi:10.1038/35023008 · Cited by 1,311
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
Roessler, E., Belloni, E., Gaudenz, K., Jay, P., Berta, P., Scherer, S. W., Tsui, L.-C., & Muenke, M. (1996) · Nature Genetics · doi:10.1038/ng1196-357 · Cited by 1,152
Self-citationDefective myosin VIIA gene responsible for Usher syndrome type IB
Well, D., Blanchard, S., Kaplan, J., Guilford, P., Gibson, F., Walsh, J., Mburu, P., Varela, A., Levilliers, J., Weston, M. D., et al. (1995) · Nature · doi:10.1038/374060a0 · Cited by 1,068
Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents
Hanaoka, K., Qian, F., Boletta, A., Bhunia, A. K., Piontek, K., Tsiokas, L., Sukhatme, V. P., Guggino, W. B., & Germino, G. G. (2000) · Nature · doi:10.1038/35050128 · Cited by 818
Principles for the buffering of genetic variation
Hartman, J. L., Garvik, B., & Hartwell, L. (2001) · Science · doi:10.1126/science.1056072 · Cited by 808
Cited by
Klopocki, E., Schulze, H., Strauß, G., Ott, C.-E., Hall, J., Trotier, F., Fleischhauer, S., Greenhalgh, L., Newbury-Ecob, R. A., Neumann, L. M., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/510919 · Cited by 360
Flück, C. E., Meyer-Böni, M., Pandey, A. V., Kempná, P., Miller, W. L., Schoenle, E. J., & Biason-Lauber, A. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.06.009 · Cited by 248
Dubourg, C., Lazaro, L., Pasquier, L., Bendavid, C., Blayau, M., Duff, F. L., Durou, M.-R., Odent, S., & David, V. (2004) · Human Mutation · doi:10.1002/humu.20056 · Cited by 145
Three novel mutations in SQSTM1 identified in familial Paget’s disease of bone.
Johnson-Pais, T. L., Wisdom, J. H., Weldon, K. S., Cody, J. D., Hansen, M. F., Singer, F. R., & Leach, R. J. (2003) · Journal of Bone and Mineral Research · doi:10.1359/jbmr.2003.18.10.1748 · Cited by 110
Vergier, J., Castinetti, F., Saveanu, A., Girard, N., Brue, T., & Reynaud, R. (2019) · European Journal of Endocrinology · doi:10.1530/eje-19-0168 · Cited by 94
Metadata
- Authors
- Ming, J. E., & Muenke, M.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2002-11
- Volume
- 71
- Issue
- 5
- Pages
- 1017-1032
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2080030928
- Cited by
- 313
- References
- 112
- FWCI
- 16.25
- Type
- journal article
- Language
- en
- Open access
- bronze
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: Multiple Hits during Early Embryonic Development: Digenic Diseases and Holoprosencephaly. https://app.cochat.ai/papers/10.1086/344412
- The paper
- Ming, J. E., & Muenke, M. (2002). Multiple Hits during Early Embryonic Development: Digenic Diseases and Holoprosencephaly. The American Journal of Human Genetics. https://doi.org/10.1086/344412
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.
