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...

Several legal acts mandate that management agencies regularly assess biological populations. For species with distinct markings, these assessments can be conducted noninvasively via capture‐recapture and photographic identification (photo‐ID), which involves processing considerable quantities of photographic data. To ease this burden, agencies increasingly rely on automated identification (ID) algorithms. Identification algori...

Increasing levels of anthropogenic underwater noise have caused concern over their potential impacts on marine life. Offshore renewable energy developments and seismic exploration can produce impulsive noise which is especially hazardous for marine mammals because it can induce auditory damage at shorter distances and behavioral disturbance at longer distances. However, far-field effects of impulsive noise remain poorly unders...