MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith–Magenis and fragile X syndromes-Reference-Cited by-同舟云学术

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MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith–Magenis and fragile X syndromes

Published:2014-10-01 Issue:6 Volume:23 Page:781-789
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Mullegama Sureni V,Pugliesi Loren,Burns Brooke,Shah Zalak,Tahir Raiha,Gu Yanghong,Nelson David L,Elsea Sarah H

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2014200.pdf

Reference39 articles.

1. Jiang YH, Yuen RK, Jin X et al. Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. Am J Hum Genet 2013; 93: 249–263.

2. Kotagal S, Broomall E : Sleep in children with autism spectrum disorder. Pediatr Neurol 2012; 47: 242–251.

3. Malow BA, Adkins KW, Reynolds A et al. Parent-based sleep education for children with autism spectrum disorders. J Autism Dev Disord 2013; 44: 216–228.

4. Talkowski ME, Mullegama SV, Rosenfeld JA et al. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Am J Hum Genet 2011; 89: 551–563.

5. Mullegama SV, Rosenfeld JA, Orellana C et al. Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder. Eur J Hum Genet 2014; 22: 57–63.

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