The DOI matches its Crossref record; 47 of the 47 references it cites were found in a registry or an index.
Genetics of human telomere biology disorders
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Cites
Extension of Life-Span by Introduction of Telomerase into Normal Human Cells
Bodnar, A. G., Ouellette, M., Frolkis, M., Holt, S. E., Chiu, C.-P., Morin, G. B., Harley, C. B., Shay, J. W., Lichtsteiner, S., & Wright, W. E. (1998) · Science · doi:10.1126/science.279.5349.349 · Cited by 4,975
Blackburn, E. H., Epel, E. S., & Lin, J. (2015) · Science · doi:10.1126/science.aab3389 · Cited by 1,596
Telomerase Mutations in Families with Idiopathic Pulmonary Fibrosis
Armanios, M. Y., Chen, J. J.-L., Cogan, J. D., Alder, J. K., Ingersoll, R. G., Markin, C., Lawson, W. E., Xie, M., Vulto, I., Phillips, J. A., et al. (2007) · New England Journal of Medicine · doi:10.1056/nejmoa066157 · Cited by 1,357
Heiss, N. S., Knight, S. W., Vulliamy, T. J., Klauck, S. M., Wiemann, S., Mason, P. J., Poustka, A., & Dokal, I. (1998) · Nature Genetics · doi:10.1038/ng0598-32 · Cited by 976
Deep sequencing reveals 50 novel genes for recessive cognitive disorders
Najmabadi, H., Hu, H., Garshasbi, M., Zemojtel, T., Abedini, S. S., Chen, W., Hosseini, M., Behjati, F., Haas, S., Jamali, P., et al. (2011) · Nature · doi:10.1038/nature10423 · Cited by 965
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
Vulliamy, T., Marrone, A., Goldman, F., Dearlove, A., Bessler, M., Mason, P. J., & Dokal, I. (2001) · Nature · doi:10.1038/35096585 · Cited by 960
Adult-onset pulmonary fibrosis caused by mutations in telomerase
Tsakiri, K. D., Cronkhite, J. T., Kuan, P. J., Xing, C., Raghu, G., Weissler, J. C., Rosenblatt, R. L., Shay, J. W., & Garcia, C. K. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0701009104 · Cited by 894
Shelterin-Mediated Telomere Protection
de Lange, T. (2018) · Annual Review of Genetics · doi:10.1146/annurev-genet-032918-021921 · Cited by 816
Short telomeres are a risk factor for idiopathic pulmonary fibrosis
Alder, J. K., Chen, J. J.-L., Lancaster, L., Danoff, S., Su, S.-C., Cogan, J. D., Vulto, I., Xie, M., Qi, X., Tuder, R. M., et al. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0804280105 · Cited by 805
Telomere dysfunction in ageing and age-related diseases
Rossiello, F., Jurk, D., Passos, J. F., & d’Adda di Fagagna, F. (2022) · Nature Cell Biology · doi:10.1038/s41556-022-00842-x · Cited by 754 · cited 1×
“(3) Somatic mutations in genes involved in RNA decay that could increase the amount of”
Background
Cited by
Defining the complex needs of families with rare diseases—the example of telomere biology disorders
Wilsnack, C., Rising, C. J., Pearce, E. E., Forbes Shepherd, R., Thompson, A. S., Majid, A., Werner-Lin, A., Savage, S. A., & Hutson, S. P. (2024) · European Journal of Human Genetics · doi:10.1038/s41431-024-01697-6 · Cited by 7
Pearce, E. E., Majid, A., Brown, T., Shepherd, R. F., Rising, C., Wilsnack, C., Thompson, A. S., Gilkey, M. B., Ribisl, K. M., Lazard, A. J., et al. (2024) · JMIR Formative Research · doi:10.2196/64343 · Cited by 2
Metadata
- Authors
- Revy, P., Kannengiesser, C., & Bertuch, A. A.
- Venue
- Nature Reviews Genetics
- Published
- 2022-09-23
- Volume
- 24
- Issue
- 2
- Pages
- 86-108
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- OpenAlex
- W4296838141
- Cited by
- 234
- References
- 47
- FWCI
- 8.00
- Type
- journal article
- Language
- en
- Open access
- green
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- Revy, P., Kannengiesser, C., & Bertuch, A. A. (2023). Genetics of human telomere biology disorders. Nature Reviews Genetics. https://doi.org/10.1038/s41576-022-00527-z
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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.
