Publications
Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism. Proc Natl Acad Sci U S A 117, 10055-10066 (2020).
Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. Genet Med 19, 13-19 (2017).
Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood. Am J Hum Genet 101, 267-273 (2017).
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. Am J Hum Genet 100, 117-127 (2017).
Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation. Curr Opin Neurol 25, 614-20 (2012).