De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism-Reference-Cited by-同舟云学术

De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism

Published:2018-01 Issue:1 Volume:137 Page:95-104
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Hiraide Takuya,Nakashima Mitsuko,Yamoto Kaori,Fukuda Tokiko,Kato Mitsuhiro,Ikeda Hiroko,Sugie Yoko,Aoto Kazushi,Kaname Tadashi,Nakabayashi Kazuhiko,Ogata Tsutomu,Matsumoto Naomichi,Saitsu Hirotomo

Funder

Grant-in-Aid for Scientific Research A

Grant-in-Aid for Scientific Research B

Grant-in-Aid for Scientific Research C

Initiative on Rare and Undiagnosed Diseases in Pediatrics

the Strategic Research Program for Brain Science

Comprehensive Research on Disability Health and Welfare

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/article/10.1007/s00439-017-1863-y/fulltext.html

Reference46 articles.

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3. Choi YJ, Oh HR, Choi MR, Gwak M, An CH, Chung YJ, Yoo NJ, Lee SH (2014) Frameshift mutation of a histone methylation-related gene SETD1B and its regional heterogeneity in gastric and colorectal cancers with high microsatellite instability. Hum Pathol 45:1674–1681. https://doi.org/10.1016/j.humpath.2014.04.013

4. de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE (2012) Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 367:1921–1929. https://doi.org/10.1056/NEJMoa1206524

5. Deciphering Developmental Disorders S (2017) Prevalence and architecture of de novo mutations in developmental disorders. Nature 542:433–438. https://doi.org/10.1038/nature21062

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