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Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy
Mapping the human genetic architecture of COVID-19
Climate change and epilepsy: insights from clinical and basic science studies
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
The landscape of epilepsy-related GATOR1 variants (vol 21, pg 398, 2019)
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
Analysis of shared heritability in common disorders of the brain