Publications

Export 3 results:
Author Title [ Year(Desc)]
Filters: Author is Bartholomew, Dennis  [Clear All Filters]
2014
Lalani, S. R. et al. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet 95, 579-83 (2014).
2017
Luo, X. et al. Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet 13, e1006905 (2017).
2021
Li, D. et al. Pathogenic variants in , a chromatin remodeler, cause a range of syndromic neurodevelopmental features. Sci Adv 7, (2021).