Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity-Reference-Cited by-同舟云学术

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity

Published:2016-07-11 Issue:8 Volume:48 Page:877-887
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Witteveen Josefine S,Willemsen Marjolein H,Dombroski Thaís C D,van Bakel Nick H M,Nillesen Willy M,van Hulten Josephus A,Jansen Eric J R,Verkaik Dave,Veenstra-Knol Hermine E,van Ravenswaaij-Arts Conny M A,Wassink-Ruiter Jolien S Klein,Vincent Marie,David Albert,Le Caignec Cedric,Schieving Jolanda,Gilissen Christian^ORCID,Foulds Nicola,Rump Patrick,Strom Tim,Cremer Kirsten,Zink Alexander M,Engels Hartmut,de Munnik Sonja A,Visser Jasper E,Brunner Han G,Martens Gerard J M,Pfundt Rolph,Kleefstra Tjitske,Kolk Sharon M^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.3619.pdf

Reference84 articles.

1. Lugtenberg, D. et al. De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila. Eur. J. Hum. Genet. http://dx.doi.org/10.1038/ejhg.2015.282 (2016).

2. Willemsen, M.H. & Kleefstra, T. Making headway with genetic diagnostics of intellectual disabilities. Clin. Genet. 85, 101–110 (2014).

3. Willemsen, M.H. et al. Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability. J. Med. Genet. 48, 810–818 (2011).

4. Samocha, K.E. et al. A framework for the interpretation of de novo mutation in human disease. Nat. Genet. 46, 944–950 (2014).

5. Coe, B.P. et al. Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nat. Genet. 46, 1063–1071 (2014).

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