Identification of rare de novo epigenetic variations in congenital disorders

Identification of rare de novo epigenetic variations in congenital disorders

A proportion of neurodevelopmental disorder and congenital anomaly cases remain without a genetic diagnosis. Here, the authors study aberrations of DNA methylation in such cases and find that epivariations might provide an explanation for some of these undiagnosed patients.

Bibliographic Details
Main Authors: Mafalda Barbosa, Ricky S. Joshi, Paras Garg, Alejandro Martin-Trujillo, Nihir Patel, Bharati Jadhav, Corey T. Watson, William Gibson, Kelsey Chetnik, Chloe Tessereau, Hui Mei, Silvia De Rubeis, Jennifer Reichert, Fatima Lopes, Lisenka E. L. M. Vissers, Tjitske Kleefstra, Dorothy E. Grice, Lisa Edelmann, Gabriela Soares, Patricia Maciel, Han G. Brunner, Joseph D. Buxbaum, Bruce D. Gelb, Andrew J. Sharp
Format: Article
Language:English
Published: Nature Publishing Group 2018-05-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-018-04540-x

Internet

https://doi.org/10.1038/s41467-018-04540-x

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