C. Gilissen

Excessive activation of the RAS/MAPK pathway triggers adult-onset motor axonal degeneration

Summary Axonal and synaptic degeneration are key hallmarks of neurodegenerative diseases, but the molecular mechanisms remain incompletely understood. Here, we performed an unbiased forward genetic mosaic screen in Drosophila to identify genes required for maintenance of adult motor axons and neuromuscular junctions (N...

MetaDome 2027: a comprehensively updated resource for aggregating missense variant evidence across homologous human protein domains

The MetaDome 2027 update is presented, featuring a comprehensively updated dataset and GRCh38 support and showing how MetaDome helped reclassify a de novo missense VUS in RALA and identify 52,463 ClinVar missense VUS for which meta-domains supply otherwise unavailable pathogenic evidence.

Genome sequencing reveals novel pathogenic deep-intronic PCDH15 variants, amenable to antisense oligonucleotide-based splice correction