The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation
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Citations
Cites
Age-related clonal hematopoiesis associated with adverse outcomes
Jaiswal, S., Fontanillas, P., Flannick, J., Manning, A., Grauman, P. V., Mar, B. G., Lindsley, R. C., Mermel, C. H., Burtt, N., Chavez, A., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1408617 · Cited by 4,841
Rate of de novo mutations and the importance of father’s age to disease risk
Kong, A., Frigge, M. L., Masson, G., Besenbacher, S., Sulem, P., Magnusson, G., Gudjonsson, S. A., Sigurdsson, A., Jonasdottir, A., Jonasdottir, A., et al. (2012) · Nature · doi:10.1038/nature11396 · Cited by 2,134
Age-related mutations associated with clonal hematopoietic expansion and malignancies
Xie, M., Lu, C., Wang, J., McLellan, M. D., Johnson, K. J., Wendl, M. C., McMichael, J. F., Schmidt, H. K., Yellapantula, V., Miller, C. A., et al. (2014) · Nature Medicine · doi:10.1038/nm.3733 · Cited by 1,874
Genome sequencing identifies major causes of severe intellectual disability
Gilissen, C., Hehir-Kwa, J. Y., Thung, D. T., van de Vorst, M., van Bon, B. W. M., Willemsen, M. H., Kwint, M., Janssen, I. M., Hoischen, A., Schenck, A., et al. (2014) · Nature · doi:10.1038/nature13394 · Cited by 1,125
Self-citationVariation in genome-wide mutation rates within and between human families
the 1000 Genomes Project (2011) · Nature Genetics · doi:10.1038/ng.862 · Cited by 581
Mosaic Copy Number Variation in Human Neurons
McConnell, M. J., Lindberg, M. R., Brennand, K. J., Piper, J. C., Voet, T., Cowing-Zitron, C., Shumilina, S., Lasken, R. S., Vermeesch, J. R., Hall, I. M., et al. (2013) · Science · doi:10.1126/science.1243472 · Cited by 551
Cited by
Genetic studies in intellectual disability and related disorders
Vissers, L. E. L. M., Gilissen, C., & Veltman, J. A. (2016) · Nature Reviews Genetics · doi:10.1038/nrg3999 · Cited by 761
Self-citationGenetic Causes and Modifiers of Autism Spectrum Disorder
Rylaarsdam, L., & Guemez-Gamboa, A. (2019) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2019.00385 · Cited by 560
Parent-of-origin-specific signatures of de novo mutations
Goldmann, J. M., Wong, W. S. W., Pinelli, M., Farrah, T., Bodian, D., Stittrich, A. B., Glusman, G., Vissers, L. E. L. M., Hoischen, A., Roach, J. C., et al. (2016) · Nature Genetics · doi:10.1038/ng.3597 · Cited by 334
Self-citationRates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
Lim, E. T., Uddin, M., De Rubeis, S., Chan, Y., Kamumbu, A. S., Zhang, X., D'Gama, A. M., Kim, S. N., Hill, R. S., Goldberg, A. P., et al. (2017) · Nature Neuroscience · doi:10.1038/nn.4598 · Cited by 299
Overlooked roles of DNA damage and maternal age in generating human germline mutations
Gao, Z., Moorjani, P., Sasani, T. A., Pedersen, B. S., Quinlan, A. R., Jorde, L. B., Amster, G., & Przeworski, M. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1901259116 · Cited by 229
“…germline mosaic mutations in a study of four generations of cattle (Harland et al., 2017) and (to a lesser extent) in humans (Huang et al., 2014; Acuna-Hidalgo et al., 2015; Rahbari et al., 2016; Ju et al., 2017; Lim et al., 2017; Sasani et al., 2018), as well as to mutations that are…”
Background
Metadata
- Authors
- Acuna-Hidalgo, R., Bo, T., Kwint, M. P., van de Vorst, M., Pinelli, M., Veltman, J. A., Hoischen, A., Vissers, L. E. L. M., & Gilissen, C.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2015-07
- Volume
- 97
- Issue
- 1
- Pages
- 67-74
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W1588316525
- Cited by
- 246
- References
- 6
- FWCI
- 16.86
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation. https://app.cochat.ai/papers/10.1016/j.ajhg.2015.05.008
- The paper
- Acuna-Hidalgo, R., Bo, T., Kwint, M. P., van de Vorst, M., Pinelli, M., Veltman, J. A., Hoischen, A., Vissers, L. E. L. M., & Gilissen, C. (2015). Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2015.05.008
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.
