De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

@article{Homsy2015DeNM,
  title={De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies},
  author={Jason G Homsy and S. Zaidi and Yufeng Shen and J. Ware and K. Samocha and K. Karczewski and S. DePalma and D. McKean and H. Wakimoto and J. Gorham and Sheng-Chih Jin and J. Deanfield and A. Giardini and G. Porter and R. Kim and K. Bilguvar and F. L{\'o}pez-Gir{\'a}ldez and Irina R. Tikhonova and S. Mane and Angela Romano-Adesman and Hongjian Qi and B. Vardarajan and Lijiang Ma and M. Daly and A. Roberts and M. Russell and S. Mital and J. Newburger and J. Gaynor and R. Breitbart and I. Iossifov and M. Ronemus and S. Sanders and J. Kaltman and J. Seidman and M. Brueckner and B. Gelb and E. Goldmuntz and R. Lifton and C. Seidman and W. Chung},
  journal={Science},
  year={2015},
  volume={350},
  pages={1262 - 1266}
}
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… Expand
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