N ε-lysine acetylation was discovered more than half a century ago as a post-translational
modification of histones and has been extensively studied in the context of transcription …

Acetylation is one of the major post-translational protein modifications in the cell, with
manifold effects on the protein level as well as on the metabolome level. The acetyl group …

Background We report the findings from 4437 individuals (3219 patients and 1218 relatives)
who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine …

Purpose: We report the diagnostic yield of whole-exome sequencing (WES) in 3,040
consecutive cases at a single clinical laboratory. Methods: WES was performed for many …

Neurodevelopmental disorders (NDDs), including intellectual disability (ID) and autism
spectrum disorders (ASD), are a large group of disorders in which early insults during brain …

Research over the past three decades has firmly established lysine acetyltransferases
(KATs) as central players in regulating transcription. Recent advances in genomic …

Genetic investigations of people with impaired development of spoken language provide
windows into key aspects of human biology. Over 15 years after FOXP2 was identified, most …

Chromosome 22q11. 2 deletion syndrome (22q11. 2del) is a complex, multi-organ disorder
noted for its varying severity and penetrance among those affected. The clinical problems …

Histone modifications and more specifically ε-lysine acylations are key epigenetic regulators
that control chromatin structure and gene transcription, thereby impacting on various …

Purpose Pathogenic variants in KAT6A have recently been identified as a cause of
syndromic developmental delay. Within 2 years, the number of patients identified with …