Annika Wolf

Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder

P. Huppke, J. Church, P. Nürnberg, 2017, Nature Communications.

CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression

B. Wlodarczyk, R. Finnell, V. Ramaekers, 2020, Journal of Medical Genetics.