Identification of rare de novo epigenetic variations in congenital disorders-Reference-Cited by-同舟云学术

Identification of rare de novo epigenetic variations in congenital disorders

Published:2018-05-25 Issue:1 Volume:9 Page:
ISSN:2041-1723
Container-title:Nature Communications
language:en
Short-container-title:Nat Commun

Author:

Barbosa Mafalda,Joshi Ricky S.,Garg Paras,Martin-Trujillo Alejandro,Patel Nihir^ORCID,Jadhav Bharati,Watson Corey T.,Gibson William,Chetnik Kelsey,Tessereau Chloe,Mei Hui,De Rubeis Silvia,Reichert Jennifer,Lopes Fatima,Vissers Lisenka E. L. M.,Kleefstra Tjitske,Grice Dorothy E.,Edelmann Lisa,Soares Gabriela,Maciel Patricia,Brunner Han G.,Buxbaum Joseph D.,Gelb Bruce D.^ORCID,Sharp Andrew J.

Publisher

Springer Science and Business Media LLC

Subject

General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry

Link

http://www.nature.com/articles/s41467-018-04540-x.pdf

Reference58 articles.

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3. Willemsen, R., Levenga, J. & Oostra, B. CGG repeat in the FMR1 gene: size matters. Clin. Genet. 80, 214–225 (2011).

4. Bamshad, M. J. et al. Exome sequencing as a tool for Mendelian disease gene discovery - supplementary information. Nat. Rev. Genet. 12, 745–755 (2011).

5. Miller, D. T. et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am. J. Hum. Genet. 86, 749–764 (2010).

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