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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …