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Brain : a Journal of Neurology|July 30, 2023
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disordersReza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, et al.
The Journal of Clinical Investigation|September 18, 2025
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasiaAymeric Masson, Julien Paccaud, Martina Orefice, et al.
Biological Psychiatry|August 25, 2019
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β SignalingBrett V Johnson, Raman Kumar, Sabrina Oishi, et al.
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