Robin Wijngaard
Radboud University Nijmegen(NL)University Medical Center(US)Radboud University Medical Center(NL)
Publications by Year
Research Areas
Genomics and Rare Diseases, Metabolism and Genetic Disorders, Genetics and Neurodevelopmental Disorders, RNA and protein synthesis mechanisms, Prostate Cancer Treatment and Research
Most-Cited Works
- → Dysregulation of homocysteine homeostasis in acute intermittent porphyria patients receiving heme arginate or givosiran(2021)45 cited
- → Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses(2025)32 cited
- → Pathophysiology of Oropharyngeal Dysphagia Assessed by Videofluoroscopy in Patients with Dementia Taking Antipsychotics(2018)28 cited
- → Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy(2025)28 cited
- → Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples(2023)19 cited
- → Validation of a Gas Chromatography-Mass Spectrometry Method for the Measurement of the Redox State Metabolic Ratios Lactate/Pyruvate and β-Hydroxybutyrate/Acetoacetate in Biological Samples(2021)15 cited