Neural circuit function can be drastically affected by variations in the number of cells that are
produced during development or by a reduction in adult cell number owing to disease. For …

The ATP-dependent BRG1/BRM associated factor (BAF) chromatin remodeling complexes
are crucial in regulating gene expression by controlling chromatin dynamics. Over the last …

DNA sequencing-based studies of neurodevelopmental disorders (NDDs) have identified a
wide range of genetic determinants. However, a comprehensive analysis of these data, in …

Several molecular and phenotypic algorithms exist that establish genotype–phenotype
correlations, including facial recognition tools. However, no unified framework that …

Mammalian SWI/SNF complexes are ATP-dependent chromatin remodeling complexes that
regulate genomic architecture. Here, we present a structural model of the endogenously …

The ATP-dependent chromatin remodelling complex BAF (= mammalian SWI/SNF complex)
is crucial for the regulation of gene expression and differentiation. In the course of evolution …

Mutations in genes that encode proteins of the SWI/SNF complex, called BAF complex in
mammals, cause a spectrum of disorders that ranges from syndromic intellectual disability to …

Chromatin remodeling complexes are known to modify chemical marks on histones or to
induce conformational changes in the chromatin in order to regulate transcription. De novo …

Purpose Pathogenic variants in ARID1B are one of the most frequent causes of intellectual
disability (ID) as determined by large-scale exome sequencing studies. Most studies …

Abstract Coffin–Siris and Nicolaides–Baraitser syndromes (CSS and NCBRS) are
Mendelian disorders caused by mutations in subunits of the BAF chromatin remodeling …