Publications
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder. Am J Hum Genet 105, 403-412 (2019).
Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO. J Med Genet 54, 47-53 (2017).