Danique Beijer
University of Miami(US)University of Toronto(CA)Hospital for Sick Children(CA)German Center for Neurodegenerative Diseases(DE)Dr. John T. Macdonald Foundation(US)Hertie Institute for Clinical Brain Research(DE)University of Tübingen(DE)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Genetic Neurodegenerative Diseases, Genomics and Rare Diseases, Mitochondrial Function and Pathology, Neurological diseases and metabolism
Most-Cited Works
- → Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia(2022)226 cited
- → Unrestrained poly-ADP-ribosylation provides insights into chromatin regulation and human disease(2021)100 cited
- → Solving patients with rare diseases through programmatic reanalysis of genome-phenome data(2021)73 cited
- → Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation(2021)69 cited
- → Deep structured learning for variant prioritization in Mendelian diseases(2023)42 cited
- → Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy(2019)42 cited