De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome-Reference-Cited by-同舟云学术

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

Published:2011-06-26 Issue:8 Volume:43 Page:729-731
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Hoischen Alexander,van Bon Bregje W M,Rodríguez-Santiago Benjamín,Gilissen Christian,Vissers Lisenka E L M,de Vries Petra,Janssen Irene,van Lier Bart,Hastings Rob,Smithson Sarah F,Newbury-Ecob Ruth,Kjaergaard Susanne,Goodship Judith,McGowan Ruth,Bartholdi Deborah,Rauch Anita,Peippo Maarit,Cobben Jan M,Wieczorek Dagmar,Gillessen-Kaesbach Gabriele,Veltman Joris A,Brunner Han G,de Vries Bert B B A

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.868.pdf

Reference14 articles.

1. Oberklaid, F. & Danks, D.M. Am. J. Dis. Child. 129, 1348–1349 (1975).

2. Hastings, R., Cobben, J.M. & Gillessen-Kaesbach, G. et al. Eur. J. Hum. Genet. 19, 513–519 (2011).

3. Bohring, A., Oudesluijs, G.G., Grange, D.K., Zampino, G. & Thierry, P. Am. J. Med. Genet. A. 140, 1257–1263 (2006).

4. Ng, S.B. et al. Nat. Genet. 42, 790–793 (2010).

5. Gilissen, C. et al. Am. J. Hum. Genet. 87, 418–423 (2010).

Cited by 241 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. De novo mutations promote inflammation in children with STAT3 gain-of-function syndrome by affecting IL-1β expression;International Immunopharmacology;2024-10

2. To Ub or not to Ub: The epic dilemma of histones that regulate gene expression and epigenetic cross-talk;Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms;2024-09

3. Systematic evaluation ofde novomutation calling tools using whole genome sequencing data;2024-08-30

4. Intrauterine growth in chromatinopathies: A long road for better understanding and for improving clinical management;Birth Defects Research;2024-07

5. Generation and Characterization of Induced Pluripotent Stem Cells Carrying An ASXL1 Mutation;Stem Cell Reviews and Reports;2024-06-17