The 16p11. 2 locus is a pericentromeric region found in chromosome 16, one of the most
gene-rich chromosomes in our genome, for which 10% of its sequence consists of …

Abstract The chromosome 16p13. 11 heterozygous deletion is associated with a diverse
array of neuropsychiatric disorders including intellectual disabilities, autism, schizophrenia …

Copy number variations (CNVs) of the human 16p11. 2 genetic locus are associated with a
range of neurodevelopmental disorders, including autism spectrum disorder, intellectual …

Abstract Background The 16p11. 2 deletion is one of the most common genetic aetiologies
of neurodevelopmental disorders (NDDs). The prenatal phenotype of 16p11. 2 deletion and …

Copy number variations (CNVs) are a form of structural genome variations by which a
stretch of chromatin between 2 breakpoints on the same chromosome arm is either lost or …

Rare CNVs such as the 16p11. 2 deletion are associated with extensive phenotypic
heterogeneity, complicating disease gene discovery and functional evaluation. We used …

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 …

Recurrent deletions and duplications at chromosomal region 16p11. 2 are a major genetic
contributor to autism but also associate with a wider range of pediatric diagnoses, including …

Background Copy number variants (CNVs) are genetic rearrangements, such as deletions
and duplications, which result in a deviation from the normal number of copies of a given …

Chromosome 16p11. 2 deletions and duplications are among the most frequent genetic
etiologies of autism spectrum disorder (ASD) and other neurodevelopmental disorders, but …