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...

Estuaries are productive ecosystems that support diverse aquatic species and human economies through fisheries, recreation, and navigation. However, coastal development and dredging have altered the ecological processes of estuarine habitats. In the Savannah River estuary, the Savannah Harbor Expansion Project (SHEP) deepened the river’s navigational channel by dredging to amplify vessel commerce. The endangered shortnose stur...

Key message Although leaf turgor loss point reflects osmotic potential variation in Eucalyptus, the osmometer method alone does not reliably rank drought tolerance among genotypes in breeding-oriented common-garden trials. Abstract Increasing droughts driven by climate change highlight the need to identify traits associated with drought tolerance in tree breeding programs. However, finding operationalizable traits that effecti...