Oegema, Renske

Top Publications

Top Publications Authored or Co-Authored by "Oegema, Renske"

• Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

  Nature Communications, Volume 11, No. 1, Article 595, Year 2020, Citations 85
• Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

  Genetics in Medicine, Volume 25, No. 1, Year 2023, Citations 59
• TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities

  American Journal of Human Genetics, Volume 105, No. 6, Year 2019, Citations 49
• International consensus recommendations on the diagnostic work-up for malformations of cortical development

  Nature Reviews Neurology, Volume 16, No. 11, Year 2020, Citations 27