The DOI matches its Crossref record; 142 of the 142 references it cites were found in a registry or an index.
Cystic fibrosis genetics: from molecular understanding to clinical application
Open accessAbstract
The availability of the human genome sequence and tools for interrogating individual genomes provide an unprecedented opportunity to apply genetics to medicine. Mendelian conditions, which are caused by dysfunction of a single gene, offer powerful examples that illustrate how genetics can provide insights into disease. Cystic fibrosis, one of the more common lethal autosomal recessive Mendelian disorders, is presented here as an example. Recent progress in elucidating disease mechanism and causes of phenotypic variation, as well as in the development of treatments, demonstrates that genetics continues to play an important part in cystic fibrosis research 25 years after the discovery of the disease-causing gene.
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Elborn, J. S. (2016) · The Lancet · doi:10.1016/s0140-6736(16)00576-6 · Cited by 1,805
Bacterial siderophores in community and host interactions
Kramer, J., Özkaya, Ö., & Kümmerli, R. (2020) · Nature Reviews Microbiology · doi:10.1038/s41579-019-0284-4 · Cited by 998
Disease modeling in stem cell-derived 3D organoid systems
Dutta, D., Heo, I., & Clevers, H. (2017) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2017.02.007 · Cited by 838
Veit, G., Avramescu, R. G., Chiang, A. N., Houck, S. A., Cai, Z., Peters, K. W., Hong, J. S., Pollard, H. B., Guggino, W. B., Balch, W. E., et al. (2016) · Molecular Biology of the Cell · doi:10.1091/mbc.e14-04-0935 · Cited by 580
Self-citationDekkers, J. F., Berkers, G., Kruisselbrink, E., Vonk, A., de Jonge, H. R., Janssens, H. M., Bronsveld, I., van de Graaf, E. A., Nieuwenhuis, E. E. S., Houwen, R. H. J., et al. (2016) · Science Translational Medicine · doi:10.1126/scitranslmed.aad8278 · Cited by 548
Metadata
- Authors
- Cutting, G. R.
- Venue
- Nature Reviews Genetics
- Published
- 2014-11-18
- Volume
- 16
- Issue
- 1
- Pages
- 45-56
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- OpenAlex
- W2086293424
- Cited by
- 965
- References
- 142
- FWCI
- 9.91
- Type
- journal article
- Language
- en
- Open access
- green
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