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April 2025
GREENE D, De Wispelaere K, Lees J, Codina-Sola M, et al Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental
disorder with prominent epilepsy.
Nat Genet. 2025 Apr 10. doi: 10.1038/s41588-025-02159. PubMedAbstract available
November 2023
BJORNSDOTTIR G, Chalmer MA, Stefansdottir L, Skuladottir AT, et al Rare variants with large effects provide functional insights into the pathology
of migraine subtypes, with and without aura.
Nat Genet. 2023;55:1843-1853. PubMedAbstract available
October 2023
MILLER KE, Rivaldi AC, Shinagawa N, Sran S, et al Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy.
Nat Genet. 2023 Oct 23. doi: 10.1038/s41588-023-01547. PubMedAbstract available