The DOI matches its Crossref record; 8 of the 8 references it cites were found in a registry or an index.
Age of the ΔF508 cystic fibrosis mutation
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Various statistical methods have been developed that provide more realistic confidence intervals of estimated allele ages.
“Various statistical methods have been developed that provide more realistic confidence intervals of estimated ages103–106.”
From Linkage disequilibrium--understanding the evolutionary past and mapping the medical future. (2008) · cites this paper as [103]
Citations
Cites
Identification of the Cystic Fibrosis Gene: Genetic Analysis
Kerem, B.-S., Rommens, J. M., Buchanan, J. A., Markiewicz, D., Cox, T. K., Chakravarti, A., Buchwald, M., & Tsui, L.-C. (1989) · Science · doi:10.1126/science.2570460 · Cited by 4,142
Mutation of human short tandem repeats
Weber, J. L., & Wong, C. (1993) · Human Molecular Genetics · doi:10.1093/hmg/2.8.1123 · Cited by 1,574
The origin of the major cystic fibrosis mutation (ΔF508) in European populations
Morral, N., Bertranpetit, J., Estivill, X., Nunes, V., Casals, T., Giménez, J., Reis, A., Varon-Mateeva, R., Maçek, M., Kalaydjieva, L. V., et al. (1994) · Nature Genetics · doi:10.1038/ng0694-169 · Cited by 358
Patterns of polymorphism and linkage disequilibrium for cystic fibrosis
Estivill, X., Scambler, P. J., Wainwright, B. J., Hawley, K., Frederick, P., Schwartz, M., Baiget, M., Kere, J., Williamson, R., & Farrall, M. (1987) · Genomics · doi:10.1016/0888-7543(87)90052-8 · Cited by 154
Serre, J. L., Simon‐Bouy, B., Mornet, É., Roig, B. J., Balassopoulou, A., Schwartz, M., Taillandier, A., Bou�, J., & Bou�, A. (1990) · Human Genetics · doi:10.1007/bf00195818 · Cited by 102
Linkage disequilibrium, cystic fibrosis, and genetic counseling.
Beaudet, A. L., Feldman, G. L., Fernbach, S. D., Buffone, G. J., & O’Brien, W. E. (1989) · PubMed · Cited by 90
Recombinations between IRP and cystic fibrosis.
Farrall, M., Wainwright, B. J., Feldman, G. L., Beaudet, A. L., Sretenovic, Z., Halley, D. J. J., Simon, M., Dickerman, L. H., Devoto, M., & Romeo, G. (1988) · Europe PMC (PubMed Central) · Cited by 45
Casals, T., Nunes, V., Lázaro, C., Giménez, F. J., Girbau, E., Volpini, V., & Estivill, X. (1991) · Journal of Medical Genetics · doi:10.1136/jmg.28.11.771 · Cited by 11
Flagged first, then by citations
Research works printed but not linked: 4
- Serre, J.L. et al. Hum. Genet. 84, 449–454 (1992).
- Kaplan, N. & Weir, B.S. Mathematical Population Genetics (eds Donnelly, P. & Tavare, S.) (Springer-Vertag, New York, in the press).
- Farrall, M. et al. Am. J. hum. Genet. 43, 471–475 (1990).
- Beaudet, A.L. et al. Am. J. hum. Genet. 44, 319–326 (1989).
Cited by
Sorted by citations
Linkage disequilibrium--understanding the evolutionary past and mapping the medical future.
Slatkin, M. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2361 · Cited by 1,614
Dating the Origin of the CCR5-Δ32 AIDS-Resistance Allele by the Coalescence of Haplotypes
Stephens, J. C., Reich, D. E., Goldstein, D. B., Shin, H. D., Smith, M. W., Carrington, M., Winkler, C., Huttley, G. A., Allikmets, R., Schriml, L., et al. (1998) · The American Journal of Human Genetics · doi:10.1086/301867 · Cited by 520
Linkage disequilibrium mapping in isolated populations: The example of Finland revisited
de la Chapelle, A., & Wright, F. A. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.21.12416 · Cited by 241
Slatkin, M., & Rannala, B. H. (2000) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.1.1.225 · Cited by 235
Human Genetics: Lessons from Quebec Populations
Scriver, C. R. (2001) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.2.1.69 · Cited by 211
A Scan for Linkage Disequilibrium Across the Human Genome
Huttley, G. A., Smith, M. W., Carrington, M. N., & O’Brien, S. J. (1999) · Genetics · doi:10.1093/genetics/152.4.1711 · Cited by 193
The origin and spread of the HFE-C282Y haemochromatosis mutation
Distante, S., Robson, K., Graham-Campbell, J., Arnaiz‐Villena, A., Brissot, P., & Worwood, M. (2004) · Human Genetics · doi:10.1007/s00439-004-1152-4 · Cited by 164
Nakajima, T., Wooding, S., Sakagami, T., Emi, M., Tokunaga, K., Tamiya, G., Ishigami, T., Umemura, S., Munkhbat, B., Jin, F., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/420793 · Cited by 133
Molecular pathology of the CFTR locus in male infertility
Claustres, M. (2005) · Reproductive BioMedicine Online · doi:10.1016/s1472-6483(10)60801-2 · Cited by 128
(1997) · PubMed · Cited by 112
Bosch, E., Calafell, F., dos Santos, F. R., Pérez-Lezaun, A., Comas, D., Benchemsi, N., Tyler‐Smith, C., & Bertranpetit, J. (1999) · The American Journal of Human Genetics · doi:10.1086/302676 · Cited by 110
Mitochondrial DNA variation is an indicator of Austronesian influence in Island Melanesia
Merriwether, D. A., Friedlaender, J. S., Mediavilla, J. R., Mgone, C. S., Gentz, F., & Ferrell, R. E. (1999) · American Journal of Physical Anthropology · doi:10.1002/(sici)1096-8644(199911)110:3 · Cited by 72
Estimating Time to the Common Ancestor for a Beneficial Allele
Smith, J., Coop, G., Stephens, M., & Novembre, J. (2018) · Molecular Biology and Evolution · doi:10.1093/molbev/msy006 · Cited by 67
Farrell, P. M., Férec, C., Maçek, M., Frischer, T., Renner, S., Riss, K. C., Barton, D. E., Repetto, T., Tzetis, M., Giteau, K., et al. (2018) · European Journal of Human Genetics · doi:10.1038/s41431-018-0234-z · Cited by 65
Genetic and Geographical Variability in Cystic Fibrosis: Evolutionary Considerations
Bertranpetit, J., & Calafell, F. (2007) · Novartis Foundation symposium · doi:10.1002/9780470514887.ch6 · Cited by 63
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations
Witsch‐Baumgartner, M., Schwentner, I. M., Gruber, M., Benlian, P., Bertranpetit, J., Bieth, É., Chevy, F., Clusellas, N., Estivill, X., Gasparini, G., et al. (2007) · Journal of Medical Genetics · doi:10.1136/jmg.2007.053520 · Cited by 59
The Use of Intraallelic Variability for Testing Neutrality and Estimating Population Growth Rate
Slatkin, M., & Bertorelle, G. (2001) · Genetics · doi:10.1093/genetics/158.2.865 · Cited by 54
Can a Place of Origin of the Main Cystic Fibrosis Mutations Be Identified?
Mateu, E., Calafell, F., Ramos, M. D., Casals, T., & Bertranpetit, J. (2002) · The American Journal of Human Genetics · doi:10.1086/338243 · Cited by 51
A Bayesian method for jointly estimating allele age and selection intensity
SLATKIN, M. (2008) · Genetics Research · doi:10.1017/s0016672307008944 · Cited by 33
Wang, J., Zhao, H., Xu, F., Zhang, P., Zheng, Y., & Jia, N. (2019) · Genes & Genomics · doi:10.1007/s13258-019-00836-4 · Cited by 21
Q1311X: a novel nonsense mutation of putative ancient origin in the von Willebrand factor gene
Casaña, P., Martı́nez, F., Haya, S., Lorenzo, J. I. L., Espinós, C., & Aznar, J. A. (2000) · British Journal of Haematology · doi:10.1111/j.1365-2141.2000.02410.x · Cited by 20
Cagliani, R., Fumagalli, M., Riva, S., Pozzoli, U., Fracassetti, M., Bresolin, N., Comi, G. P., & Sironi, M. (2010) · Molecular Biology and Evolution · doi:10.1093/molbev/msq082 · Cited by 17
Using rare mutations to estimate population divergence times: A maximum likelihood approach
Bertorelle, G., & Rannala, B. H. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.26.15452 · Cited by 9
Discovery of the Principal Cystic Fibrosis Mutation (F508del) in Ancient DNA from Iron Age EuropeansPreprint
Farrell, P. M., Maréchal, C. L., Férec, C., Siker, M., & Teschler‐Nicola, M. (2007) · Nature Precedings · doi:10.1038/npre.2007.1276.1 · Cited by 8
de Cabello, G. M. K., Cabello, P. H., López‐Camelo, J. S., Llerena, J. C., & Fernandes, O. (2005) · Human Biology · doi:10.1353/hub.2006.0011 · Cited by 6
Baker, J. T., Chen, H., Evans, G. F., Scartozzi, A., Bohlender, R. J., Huff, C. D., Wells, Q. S., Samuels, D. C., & Below, J. E. (2026) · Genetic Epidemiology · doi:10.1002/gepi.70048
Metadata
- Authors
- Kaplan, N. L., Lewis, P. O., & Weir, B. S.
- Affiliations
- National Institutes of Health (US)
- North Carolina State University (US)
- Venue
- Nature Genetics
- Published
- 1994-11-01
- Volume
- 8
- Issue
- 3
- Pages
- 216-216
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W137851132
- Cited by
- 27
- References
- 8
- Citations by year
- 2026: 1 · 2019: 1 · 2018: 1
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Cystic Fibrosis Research Advances
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- F508del mutation, cystic fibrosis, mutation age estimation, founder mutation, mutation rate, population genetics
- MeSH terms
- Alleles, Cystic Fibrosis, DNA, Satellite, Europe, Biological Evolution, Gene Frequency, Genetic Markers, Membrane Proteins, Mutation, Time Factors, Likelihood Functions, Sequence Deletion, Cystic Fibrosis Transmembrane Conductance Regulator, History, Ancient
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