Pathogenic DEGS1 variants have been reported in individuals with autosomal recessive hypomyelinating leukodystrophy 18 (HLD18; MIM# 618404). Here we describe three participants with HLD features and a previously unreported homozygous DEGS1 5′ splice site variant, c.825+4_825 + 5delAGinsTT (NM_003676.4). We used next-generation DNA and transcriptome sequencing, cell-based splicing assays, and tandem mass spectrometry to detect...

Rivers and their surrounding lands are focal points of human development in the landscape. However, activities associated with development can greatly affect river processes, causing significant and often unintended environmental and human impacts. Despite the profound and varied environmental impacts that development-related alterations cause through hydrological, geomorphic, and ecological processes, they are not widely ackn...