The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes
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Citations
Cites
A map of human genome variation from population-scale sequencing.
The 1000 Genomes Project Consortium (2010) · Nature · doi:10.1038/nature09534 · Cited by 7,877
Exome sequencing identifies the cause of a mendelian disorder
Ng, S. B., Buckingham, K. J., Lee, C., Bigham, A. W., Tabor, H. K., Dent, K. M., Huff, C. D., Shannon, P. T., Jabs, E. W., Nickerson, D. A., et al. (2010) · Nature Genetics · doi:10.1038/ng.499 · Cited by 1,957
Carrier testing for severe childhood recessive diseases by next-generation sequencing
Bell, C. J., Dinwiddie, D. L., Miller, N. A., Hateley, S. L., Ganusova, E. E., Mudge, J., Langley, R. J., Zhang, L., Lee, C. C., Schilkey, F. D., et al. (2011) · Science Translational Medicine · doi:10.1126/scitranslmed.3001756 · Cited by 706 · cited 1×
“rates.(4,42) In addition, the pathogenicity determination of variants can vary among LSDBs and HGMD, making interpretation of these data challenging.”
BackgroundThe emerging landscape of breast cancer susceptibility
Stratton, M. R., & Rahman, N. (2008) · Nature Genetics · doi:10.1038/ng.2007.53 · Cited by 487
Cited by
Germline Mutations in Predisposition Genes in Pediatric Cancer
Zhang, J., Walsh, M. F., Wu, G., Edmonson, M. N., Gruber, T. A., Easton, J., Hedges, D., Ma, X., Zhou, X., Yergeau, D. A., et al. (2015) · New England Journal of Medicine · doi:10.1056/nejmoa1508054 · Cited by 1,345
“These genes are not generally examined in children as they are considered to be predisposition genes for adult cancers.(12-17) Interestingly, Magnusson et al.”
BackgroundTeo, M. Y., Seier, K., Ostrovnaya, I., Regazzi, A. M., Kania, B. E., Moran, M. M., Cipolla, C. K., Bluth, M. J., Chaim, J., Al-Ahmadie, H., et al. (2018) · Journal of Clinical Oncology · doi:10.1200/jco.2017.75.7740 · Cited by 544
van der Post, R. S., Vogelaar, I. P., Carneiro, F., Guilford, P., Huntsman, D., Hoogerbrugge, N., Caldas, C., Chelcun Schreiber, K. E., Hardwick, R. H., Ausems, M. G. E. M., et al. (2015) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2015-103094 · Cited by 561
Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes
Dorschner, M. O., Amendola, L. M., Turner, E. H., Robertson, P. D., Shirts, B. H., Gallego, C. J., Bennett, R. L., Jones, K. L., Tokita, M. J., Bennett, J. T., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.08.006 · Cited by 385
Disease-targeted sequencing: a cornerstone in the clinic
Rehm, H. L. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3463 · Cited by 377
Metadata
- Authors
- Johnston, J. J., Rubinstein, W. S., Facio, F. M., Ng, D., Singh, L. N., Teer, J. K., Mullikin, J. C., & Biesecker, L. G.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2012-07
- Volume
- 91
- Issue
- 1
- Pages
- 97-108
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2018130645
- Cited by
- 206
- References
- 4
- FWCI
- 18.96
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes. https://app.cochat.ai/papers/10.1016/j.ajhg.2012.05.021
- The paper
- Johnston, J. J., Rubinstein, W. S., Facio, F. M., Ng, D., Singh, L. N., Teer, J. K., Mullikin, J. C., & Biesecker, L. G. (2012). Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2012.05.021
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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.
