Robin Wijngaard

Dysregulation of homocysteine homeostasis in acute intermittent porphyria patients receiving heme arginate or givosiran

Jordi To‐Figueras, Robin Wijngaard, Judit García‐Villoria et al. · Journal of Inherited Metabolic Disease · 2021 · 45 citations

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

Steven Laurie, Kiran Polavarapu, Nika Schuermans et al. · Nature Medicine · 2025 · 29 citations · Full text

Pathophysiology of Oropharyngeal Dysphagia Assessed by Videofluoroscopy in Patients with Dementia Taking Antipsychotics

Marta Miarons, Père Clavé, Robin Wijngaard et al. · Journal of the American Medical Directors Association · 2018 · 27 citations

Oropharyngeal Dysphagia, Alzheimer's Disease, Computational Deglutition +9

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy

Daniel Greene, Koenraad De Wispelaere, Marta Codina‐Solà et al. · Nature Genetics · 2025 · 24 citations · Full text

Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples

Robin Wijngaard, German Demidov, Luke O’Gorman et al. · European Journal of Human Genetics · 2023 · 18 citations · Full text