academic article

The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.  Human Genetics.  137. 2018
Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy..  Human Molecular Genetics.  26. 2017
Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy.  Human Molecular Genetics.  25. 2016