The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
Beyond Mendel: an evolving view of human genetic disease transmission
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
Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA
Riordan, J. R., Rommens, J. M., Kerem, B.-S., Alon, N., Rozmahel, R., Grzelczak, Z., Zielenski, J., Lok, S., Plavsic, N., Chou, J.-L., et al. (1989) · Science · doi:10.1126/science.2475911 · Cited by 7,418
A Dominant Mutation That Predisposes to Multiple Intestinal Neoplasia in the Mouse
Moser, A. R., Pitot, H. C., & Dove, W. F. (1990) · Science · doi:10.1126/science.2296722 · Cited by 1,591
Boute, N., Gribouval, O., Roselli, S., Benessy, F., Lee, H., Fuchshuber, A., Dahan, K., Gubler, M.-C., Niaudet, P., & Antignac, C. (2000) · Nature Genetics · doi:10.1038/74166 · Cited by 1,444
Allikmets, R., Singh, N., Sun, H., Shroyer, N. F., Hutchinson, A., Chidambaram, A., Gerrard, B., Baird, L., Stauffer, D., Peiffer, A., et al. (1997) · Nature Genetics · doi:10.1038/ng0397-236 · Cited by 1,435 · cited 1×
“and the association of ABCA4 (ATP-binding cassette, subfamily A, member 4) alleles with age-related macular degeneratio”
BackgroundRetinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns
Rivolta, C. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.10.1219 · Cited by 296
Biochemical defects in ABCR protein variants associated with human retinopathies
Sun, H., Smallwood, P. M., & Nathans, J. (2000) · Nature Genetics · doi:10.1038/79994 · Cited by 203
Cited by
Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
Lupski, J. R., Reid, J. G., Gonzaga-Jauregui, C., Rio Deiros, D., Chen, D. C. Y., Nazareth, L., Bainbridge, M., Dinh, H., Jing, C., Wheeler, D. A., et al. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa0908094 · Cited by 759
Lehner, B., Crombie, C., Tischler, J., Fortunato, A., & Fraser, A. G. (2006) · Nature Genetics · doi:10.1038/ng1844 · Cited by 502
Cryptic genetic variation: evolution's hidden substrate
Paaby, A. B., & Rockman, M. V. (2014) · Nature Reviews Genetics · doi:10.1038/nrg3688 · Cited by 500
Genetic architecture: the shape of the genetic contribution to human traits and disease
Timpson, N. J., Greenwood, C. M. T., Soranzo, N., Lawson, D. J., & Richards, J. B. (2018) · Nature Reviews Genetics · doi:10.1038/nrg.2017.101 · Cited by 434
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism
Pitteloud, N., Quinton, R., Pearce, S., Raivio, T., Acierno, J., Dwyer, A., Plummer, L., Hughes, V., Seminara, S., Cheng, Y.-Z., et al. (2007) · Journal of Clinical Investigation · doi:10.1172/jci29884 · Cited by 379
Metadata
- Authors
- Badano, J. L., & Katsanis, N.
- Venue
- Nature Reviews Genetics
- Published
- 2002-10
- Volume
- 3
- Issue
- 10
- Pages
- 779-789
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- OpenAlex
- W2062699991
- Cited by
- 366
- References
- 6
- FWCI
- 1.88
- 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: Beyond Mendel: an evolving view of human genetic disease transmission. https://app.cochat.ai/papers/10.1038/nrg910
- The paper
- Badano, J. L., & Katsanis, N. (2002). Beyond Mendel: an evolving view of human genetic disease transmission. Nature Reviews Genetics. https://doi.org/10.1038/nrg910
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.
