Jolanda Schieving
Radboud University Nijmegen(NL)Radboud University Medical Center(NL)Amalia Kinderziekenhuis(NL)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Glioma Diagnosis and Treatment, Brain Metastases and Treatment, PI3K/AKT/mTOR signaling in cancer
Most-Cited Works
- → Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling(2015)330 cited
- → A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology(2017)279 cited
- → GRIN2A -related disorders: genotype and functional consequence predict phenotype(2018)223 cited
- → Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity(2016)130 cited
- → Hypofractionation vs Conventional Radiation Therapy for Newly Diagnosed Diffuse Intrinsic Pontine Glioma: A Matched-Cohort Analysis(2013)125 cited
- → Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases(2016)110 cited