Associated Papers
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.
Spirito G et al.
Npj Genomic Medicine, 2026
41629344 (PubMed )
Supplement: 41525_2025_547_MOESM2_ESM.xlsx › Table_S6
VPS41 recruits biosynthetic LAMP-positive vesicles through interaction with Arl8b.
Sanzà P et al.
The Journal of Cell Biology, 2025
Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels.
Einhorn Y et al.
Human Genomics, 2023
From bugs to bedside: functional annotation of human genetic variation for neurological disorders using invertebrate models.
Mew M et al.
Human Molecular Genetics, 2022
Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation.
van der Welle REN et al.
Embo Molecular Medicine, 2021
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