Anneliene Hechtelt Jonker

Chimeric EWSR1-FLI1 regulates the Ewing sarcoma susceptibility gene EGR2 via a GGAA microsatellite

Thomas G. P. Grünewald, Virginie Bernard, Pascale Gilardi‐Hebenstreit et al. · Nature Genetics · 2015 · 209 citations · Full text

Medicine, Genetics, Oncology +10

Recommendations for the design of small population clinical trials

Simon Day, Anneliene Hechtelt Jonker, Lilian Pek Lian Lau et al. · Orphanet Journal of Rare Diseases · 2018 · 137 citations · Full text

Medicine, Pharmacology, Clinical Epidemiology +15

The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact

Hanns Lochmüller, Josep Torrent i Farnell, Yann Le Cam et al. · European Journal of Human Genetics · 2017 · 91 citations · Full text

Medicine, Biomedical Informatics, Translational Sciences +13

Drug repurposing for rare: progress and opportunities for the rare disease community

Anneliene Hechtelt Jonker, Daniel O’Connor, Maria Cavaller-Bellaubi et al. · Frontiers in Medicine · 2024 · 45 citations · Full text

Pharmacy, Health Informatics, Pharmacology +13

The use or generation of biomedical data and existing medicines to discover and establish new treatments for patients with rare diseases – recommendations of the IRDiRC Data Mining and Repurposing Task Force

Noel Southall, Madhusudan Natarajan, Lilian Pek Lian Lau et al. · Orphanet Journal of Rare Diseases · 2019 · 38 citations · Full text

Pharmacy, Biomedical Informatics, Health Informatics +10