ABSTRACT By utilizing the Human Phenotype Ontology (HPO), recent approaches to
prioritizing disease-causing genes for patients become popular. However, these …

South America comprises of heterogeneous topographies, populations, and health care
systems. Therefore, it is not surprising to see differences among the countries regarding …

Phosphorylation facilitates the regulation of all fundamental biological processes, which has
triggered extensive research of protein kinases and their roles in human health and disease …

The transcriptional mechanisms that allow neural stem cells (NSC) to balance self-renewal
with differentiation are not well understood. Employing an in vivo RNAi screen we identify …

Pathogenic variants account for 4 to 41% of patients with intellectual disability (ID) or
developmental delay (DD). In Sub‐Saharan Africa, the prevalence of ID is thought to be …

The breakthroughs in next generation sequencing have allowed us to access data
consisting of both common and rare variants, and in particular to investigate the impact of …

Background: KMT2B-related dystonia is a primarily childhood-onset movement disorder
characterized by progressive dystonia, spasticity, and developmental delay. A minority of …

Abstract Background: Alterations of Neuroligin 3 (NLGN3), located on Xq13, have been
reported in autism spectrum disorder (ASD), and include the less frequent Xq13 duplication …

Mate preference learning, including imprinting-like learning, is pervasive across animal taxa,
and can affect the selection and maintenance of certain phenotypes. However, not much is …

X-linked dystonia-parkinsonism (XDP) is an inherited, X-linked, adult-onset movement
disorder characterized by degeneration in the neostriatum. No therapeutics alter disease …