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De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
Open accessAbstract
Putting both heart and brain at risk: For reasons that are unclear, newborns with congenital heart disease (CHD) have a high risk of neurodevelopmental disabilities. Homsy et al. performed exome sequence analysis of 1200 CHD patients and their parents to identify spontaneously arising (de novo) mutations. Patients with both CHD and neurodevelopmental disorders had a much higher burden of damaging de novo mutations, particularly in genes with likely roles in both heart and brain development. Thus, clinical genotyping of patients with CHD may help to identify those at greatest risk of neurodevelopmental disabilities, allowing surveillance and early intervention. Science , this issue p. 1262
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Metadata
- Authors
- Homsy, J., Zaidi, S., Shen, Y., Ware, J. S., Samocha, K. E., Karczewski, K. J., DePalma, S. R., McKean, D., Wakimoto, H., Gorham, J., Jin, S. C., Deanfield, J., Giardini, A., Porter, G. A., Kim, R., Bilguvar, K., López-Giráldez, F., Tikhonova, I., Mane, S., Romano-Adesman, A., Qi, H., Vardarajan, B., Ma, L., Daly, M., Roberts, A. E., Russell, M. W., Mital, S., Newburger, J. W., Gaynor, J. W., Breitbart, R. E., Iossifov, I., Ronemus, M., Sanders, S. J., Kaltman, J. R., Seidman, J. G., Brueckner, M., Gelb, B. D., Goldmuntz, E., Lifton, R. P., Seidman, C. E., & Chung, W. K.
- Venue
- Science
- Published
- 2015-12-04
- Volume
- 350
- Issue
- 6265
- Pages
- 1262-1266
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2238514531
- Cited by
- 856
- References
- 11
- FWCI
- 25.22
- Type
- journal article
- Language
- en
- Open access
- green
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- Homsy, J., Zaidi, S., Shen, Y., Ware, J. S., Samocha, K. E., Karczewski, K. J., DePalma, S. R., McKean, D., Wakimoto, H., Gorham, J., Jin, S. C., Deanfield, J., Giardini, A., Porter, G. A., Kim, R., Bilguvar, K., López-Giráldez, F., Tikhonova, I., Mane, S., . . . Chung, W. K. (2015). De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science. https://doi.org/10.1126/science.aac9396
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