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.
Enregistré dans:
Auteurs principaux: | 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 |
Langue: | EN |
Publié: |
Nature Portfolio
2018
|
Sujets: | |
Accès en ligne: | https://doaj.org/article/c3972a885e1944d0a9ba9a3e3edb2264 |
Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|
Documents similaires
-
Technological Capability and Firm Performance
par: Reichert,Fernanda Maciel, et autres
Publié: (2014) -
Avanço ou estagnação? SNI das principais economias emergentes da América Latina depois da década de 1990
par: Fernanda Maciel Reichert, et autres
Publié: (2019) -
Map Tasks in Italian: Asking Questions about Given, Accessible and New Information
par: Martine Grice, et autres
Publié: (2003) -
A Bibliometric Analysis of Behavioral Finance and Behavioral Accounting
par: Bharati Singh
Publié: (2021) -
Energy optimization analysis of archetype public buildings – Results from SHERPA European Project
par: de Rubeis Tullio, et autres
Publié: (2021)