Here we ask: What is productive signaling? How to define it, how to measure it, and most of
all, what are the parameters that determine it? Further, what determines the strength of …

Epigenetic regulation of gene expression is crucial to the determination of cell fate in
development and differentiation, and the Polycomb (PcG) and Trithorax (TrxG) groups of …

Purpose Genetic diagnostics of neurodevelopmental disorders with epilepsy (NDDE) are
predominantly applied in children, thus limited information is available regarding adults or …

The widespread availability of genetic testing for those with neurodevelopmental disorders
has highlighted the importance of many genes necessary for the proper development and …

Background KDM5 family proteins are multi-domain regulators of transcription that when
dysregulated contribute to cancer and intellectual disability. KDM5 proteins can regulate …

Abstract Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition
characterized by altered brain connectivity and function. In this study, we employed …

Histone modifying enzymes are involved in the posttranslational modification of histones
and the epigenetic control of gene expression. They play a critical role in normal …

Psychiatric disorders represent a significant burden in our societies. Despite the convincing
evidence pointing at gene and gene-environment interaction contributions, the role of …

Chromatin regulation plays a pivotal role in establishing and maintaining cellular identity
and is one of the top pathways disrupted in autism spectrum disorder (ASD). The …

Bi-allelic disruptive variants (nonsense, frameshift, and splicing variants) in KDM5B have
been identified as causative for autosomal recessive intellectual developmental disorder …