In December 2019, an initial cluster of interstitial bilateral pneumonia emerged in Wuhan,
China. A human-to-human transmission was assumed and a previously unrecognized entity …

In addition to its structural role in enclosing and protecting the genome, the nuclear
envelope (NE) forms a highly adaptive communication interface between the cytoplasm and …

Background The investigation of lncRNAs has provided a novel perspective for elucidating
mechanisms underlying diverse physiological and pathological processes. Compelling …

Up to 40% of neurodevelopmental disorders (NDDs) such as intellectual disability,
developmental delay, autism spectrum disorder, and developmental motor abnormalities …

Signal transduction through the RAF-MEK-ERK pathway, the first described mitogen-
associated protein kinase (MAPK) cascade, mediates multiple cellular processes and …

Background Fetal akinesia and arthrogryposis are clinically and genetically heterogeneous
and have traditionally been refractive to genetic diagnosis. The widespread availability of …

Over two dozen spliceosome proteins are involved in human diseases, also referred to as
spliceosomopathies. WW domain-binding protein 4 (WBP4) is part of the early spliceosomal …

Biallelic loss-of-function variants in SMPD4 cause a rare and severe neurodevelopmental
disorder with progressive congenital microcephaly and early death. SMPD4 encodes a …

It has been suggested that functional traits of the adult brain—all of which are established
early in life—may affect the brain's susceptibility to Alzheimer's disease (AD). Results of our …

Aim To assess the clinical utility of exome sequencing for patients with developmental and
epileptic encephalopathies (DEEs). Method Over 2 years, patients with DEEs were recruited …