August 2025
1. EL GHALEB Y, Fernandez-Quintero ML, Campiglio M, Tuluc P, et al
   Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity.
   PLoS Genet. 2025;21:e1011828.
   

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   October 2024
2. MCRAE HM, Leong MPY, Bergamasco MI, Garnham AL, et al
   Loss of PHF6 causes spontaneous seizures, enlarged brain ventricles and altered transcription in the cortex of a mouse model of the Borjeson-Forssman-Lehmann intellectual disability syndrome.
   PLoS Genet. 2024;20:e1011428.
   

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