Jul 2026
Transcriptional pathways of definitive ALS genes implicate novel disease-associated target genes
M. Fiorini, A. Dilliott, S. Alsabagh et al.
· medRxiv · 0 citations
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Open access
Jun 2026
Large-scale functional annotation establishes a reference framework for human LRRK2 variants
Functional effect sizes correlated with pathway activation in patient-derived immune cells, altogether providing a framework for ACMG-based variant interpretation in which kinase activation can support PS3 functional evidence for reclassification of variants.
Anthea Cheung, Neringa Pratuseviciute, Kirsten Black et al.
· medRxiv · 0 citations