Abstract Purpose For neurodevelopmental disorders (NDDs), etiological evaluation can be a
diagnostic odyssey involving numerous genetic tests, underscoring the need to develop a …

Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by distinctive
physical features, developmental delay, cognitive impairment, and a typical behavioral …

DNA rearrangements resulting in human genome structural variants (SVs) are caused by
diverse mutational mechanisms. We used long-and short-read sequencing technologies to …

Smith–Magenis syndrome (SMS; OMIM# 182290) is a complex genetic disorder
characterized by distinctive physical features, developmental delay, cognitive impairment …

Advances in genomic analyses based on next‐generation sequencing and integrated omics
approaches, have accelerated in an unprecedented way the discovery of causative genes of …

Digging behavior is often used to test motor function and repetitive behaviors in mice.
Different digging paradigms have been developed for behaviors related to anxiety and …

Background The prevalence of neurodevelopmental disorders is biased toward male
individuals, with male-to-female ratios of 2: 1 in intellectual disability and 4: 1 in autism …

Intellectual and developmental disabilities result from abnormal nervous system
development. Over a 1,000 genes have been associated with intellectual and …

Mutations in the X‐linked gene coding for the calcium‐/calmodulin‐dependent serine
protein kinase (CASK) are associated with severe neurological disorders ranging from …

Abstract Smith–Magenis syndrome (SMS), a neurodevelopmental disorder characterized by
dysmorphic features, intellectual disability (ID), and sleep disturbances, results from a …