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...

Proposed energy projects across rural working landscapes play an important role in energy transitions. While community engagement has been increasingly a part of these projects, instrumental motivations for engagement and the emphasis placed on achieving social acceptance has remained uncritically examined. Here, we aim to highlight relationships between actor rationale, the structuring of engagement processes, and how communi...