16p11. 2 copy number variations and neurodevelopmental disorders

B Rein, Z Yan - Trends in neurosciences, 2020 - cell.com
Copy number variations (CNVs) of the human 16p11. 2 genetic locus are associated with a
range of neurodevelopmental disorders, including autism spectrum disorder, intellectual …

Dosage-dependent phenotypes in models of 16p11. 2 lesions found in autism

G Horev, J Ellegood, JP Lerch… - Proceedings of the …, 2011 - National Acad Sciences
Recurrent copy number variations (CNVs) of human 16p11. 2 have been associated with a
variety of developmental/neurocognitive syndromes. In particular, deletion of 16p11. 2 is …

16p11. 2 deletion syndrome

WK Chung, TPL Roberts, EH Sherr, LAG Snyder… - Current opinion in …, 2021 - Elsevier
The 16p11. 2 BP4 and BP5 region, is a recurrent∼ 600 kb copy number variant (CNV), and
deletions are one of the most frequent etiologies of neurodevelopmental disorders and …

Opposing brain differences in 16p11. 2 deletion and duplication carriers

AY Qureshi, S Mueller, AZ Snyder… - Journal of …, 2014 - Soc Neuroscience
Deletions and duplications of the recurrent∼ 600 kb chromosomal BP4–BP5 region of
16p11. 2 are associated with a broad variety of neurodevelopmental outcomes including …

16p11. 2 deletion and duplication: characterizing neurologic phenotypes in a large clinically ascertained cohort

KJ Steinman, SJ Spence, MB Ramocki… - American journal of …, 2016 - Wiley Online Library
Chromosome 16p11. 2 deletions and duplications are among the most frequent genetic
etiologies of autism spectrum disorder (ASD) and other neurodevelopmental disorders, but …

[HTML][HTML] Cortical organoids model early brain development disrupted by 16p11. 2 copy number variants in autism

J Urresti, P Zhang, P Moran-Losada, NK Yu… - Molecular …, 2021 - nature.com
Reciprocal deletion and duplication of the 16p11. 2 region is the most common copy number
variation (CNV) associated with autism spectrum disorders. We generated cortical organoids …

Chemogenetic activation of prefrontal cortex rescues synaptic and behavioral deficits in a mouse model of 16p11. 2 deletion syndrome

W Wang, B Rein, F Zhang, T Tan, P Zhong… - Journal of …, 2018 - Soc Neuroscience
Microdeletion of the human 16p11. 2 gene locus has been linked to autism spectrum
disorder (ASD) and intellectual disability and confers risk for a number of other …

[PDF][PDF] Behavioral abnormalities and circuit defects in the basal ganglia of a mouse model of 16p11. 2 deletion syndrome

T Portmann, M Yang, R Mao, G Panagiotakos… - Cell reports, 2014 - cell.com
A deletion on human chromosome 16p11. 2 is associated with autism spectrum disorders.
We deleted the syntenic region on mouse chromosome 7F3. MRI and high-throughput …

[PDF][PDF] Transcriptional consequences of 16p11. 2 deletion and duplication in mouse cortex and multiplex autism families

I Blumenthal, A Ragavendran, S Erdin, L Klei… - The American Journal of …, 2014 - cell.com
Reciprocal copy-number variation (CNV) of a 593 kb region of 16p11. 2 is a common
genetic cause of autism spectrum disorder (ASD), yet it is not completely penetrant and can …

[HTML][HTML] 16p13. 11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders

A Ramalingam, XG Zhou, SD Fiedler… - Journal of human …, 2011 - nature.com
Abstract The chromosome 16p13. 11 heterozygous deletion is associated with a diverse
array of neuropsychiatric disorders including intellectual disabilities, autism, schizophrenia …