Danique Beijer

Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

David Pellerin, Matt C. Danzi, Carlo Wilke et al. · New England Journal of Medicine · 2022 · 222 citations · Full text

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers et al. · European Journal of Human Genetics · 2021 · 100 citations · Full text

Unrestrained poly-ADP-ribosylation provides insights into chromatin regulation and human disease

Evgeniia Prokhorova, Thomas Agnew, Anne R. Wondisford et al. · Molecular Cell · 2021 · 95 citations · Full text

Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation

Danique Beijer, Hong Joo Kim, Lin Guo et al. · JCI Insight · 2021 · 67 citations · Full text

Neurogenomics, Genetics, Clinical Presentation +21

Deep structured learning for variant prioritization in Mendelian diseases

Matt C. Danzi, Maike F. Dohrn, Sarah Fazal et al. · Nature Communications · 2023 · 42 citations · Full text