Publications
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genet Med 22, 1215-1226 (2020).
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet 100, 352-363 (2017).