De novo single exon deletion ofAUTS2in a patient with speech and language disorder: A review of disruptedAUTS2and further evidence for its role in neurodevelopmental disorders-Reference-Cited by-同舟云学术

De novo single exon deletion ofAUTS2in a patient with speech and language disorder: A review of disruptedAUTS2and further evidence for its role in neurodevelopmental disorders

Published:2014-01-23 Issue:4 Volume:164 Page:958-965
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Amarillo Ina E.¹,Li Wenhui Laura¹,Li Xinmin¹,Vilain Eric²,Kantarci Sibel¹

Affiliation:

1. Departments of Pathology and Laboratory Medicine; David Geffen School of Medicine, University of California Los Angeles; Los Angeles California

2. Department of Human Genetics and Pediatrics; David Geffen School of Medicine, University of California Los Angeles; Los Angeles California

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36393/fullpdf

Reference25 articles.

1. Hydroxyurea induces de novo copy number variants in human cells;Arlt;Proc Natl Acad Sci USA,2011

2. Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders;Bakkaloglu;Am J Hum Genet,2008

3. Autism susceptibility candidate 2 (Auts2) encodes a nuclear protein expressed in developing brain regions implicated in autism neuropathology;Bedogni;Gene Expr Patterns,2010

4. Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression;Ben-David;Hum Mol Genet,2011

5. Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus;Beunders;Am J Hum Genet,2013

Cited by 43 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. Isolated loss of the AUTS2 long isoform, brain-wide or targeted to Calbindin-lineage cells, generates a specific suite of brain, behavioral, and molecular pathologies;GENETICS;2023-10-10

2. Isolated loss of the AUTS2 long isoform, brain-wide or targeted toCalbindin-lineage cells, generates a specific suite of brain, behavioral and molecular pathologies;2023-05-04

3. Maternal auts2a contribution is a major intergenerational driver of neurodevelopment and behavior;2023-03-16

4. Structural polymorphism driven by a register shift in a CGAG-rich region found in the promoter of the neurodevelopmental regulatorAUTS2gene;Nucleic Acids Research;2023-03-02

5. Auts2 regulated autism-like behavior, glucose metabolism and oxidative stress in mice;Experimental Neurology;2023-03