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A. Jonker · SciRah

Researcher profile · Semantic Scholar

A. Jonker

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A. Jonker — researcher profile on SciRah

h-index: 15
Works: 35
Citations: 1,158

Most-cited papers

Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective
C. Austin, Christine M. Cutillo, L. Lau, A. Jonker +18 more
2017Clinical and Translational Science219 citations Open access
Semantic Scholar
Chimeric EWSR1-FLI1 regulates the Ewing sarcoma susceptibility gene EGR2 via a GGAA microsatellite
T. Grünewald, V. Bernard, P. Gilardi-Hebenstreit, V. Raynal +28 more
2015Nature Genetics176 citations Open access
Semantic Scholar
Progress in Rare Diseases Research 2010–2016: An IRDiRC Perspective
H. Dawkins, R. Draghia-Akli, P. Lasko, L. Lau +10 more
2017Clinical and Translational Science140 citations Open access
Semantic Scholar
Recommendations for the design of small population clinical trials
S. Day, A. Jonker, L. Lau, R. Hilgers +4 more
2018Orphanet Journal of Rare Diseases111 citations Open access
Semantic Scholar
The importance of international collaboration for rare diseases research: a European perspective
Daria Julkowska, Christopher P. Austin, Christine M. Cutillo, D. Gancberg +9 more
2017Gene Therapy98 citations Open access
Semantic Scholar
The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact
Hanns Lochmüller, Josep Torrent I. Farnell, Y. le Cam, A. Jonker +7 more
2017European Journal of Human Genetics77 citations Open access
Semantic Scholar
Drug repurposing for rare: progress and opportunities for the rare disease community
A. Jonker, D. O'Connor, Maria Cavaller-Bellaubi, C. Fétro +6 more
2024Frontiers in Medicine46 citations Open access
Semantic Scholar
The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap
A. Jonker, E. Tataru, H. Graessner, D. Dimmock +16 more
2024Nature reviews. Drug discovery43 citations
Semantic Scholar
‘IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases
Hanns Lochmüller, Y. le Cam, A. Jonker, L. Lau +6 more
2016European Journal of Human Genetics35 citations Open access
Semantic Scholar
Genome-Wide Functional Screening Identifies CDC37 as a Crucial HSP90-cofactor for KIT Oncogenic Expression in Gastrointestinal Stromal Tumors
A. Mariño-Enríquez, W. Ou, G. Cowley, Biao Luo +11 more
2013Oncogene30 citations Open access
Semantic Scholar
Research on rare diseases: ten years of progress and challenges at IRDiRC
Lucia Monaco, G. Zanello, Gareth Baynam, A. Jonker +6 more
2022Nature reviews. Drug discovery27 citations Open access
Semantic Scholar
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, M. Natarajan, L. Lau, A. Jonker +26 more
2019Orphanet Journal of Rare Diseases26 citations Open access
Semantic Scholar
Model consent clauses for rare disease research
M. T. Nguyen, J. Goldblatt, R. Isasi, Marlène Jagut +9 more
2019BMC Medical Ethics23 citations Open access
Semantic Scholar
European expert recommendations on clinical investigation and evaluation of high‐risk medical devices for children
Kathrin Guerlich, B. Patro-Gołąb, A. Barnacle, Ulrich Baumann +21 more
2023Acta paediatrica18 citations Open access
Semantic Scholar
Telehealth for Rare Disease Care, Research, and Education Across the Globe: A Review of the Literature by the IRDiRC Telehealth Task Force.
Faye H. Chen, Adam L. Hartman, M. C. V. Letinturier, V. Antoniadou +15 more
2024European Journal of Medical Genetics16 citations Open access
Semantic Scholar
Deciphering tissue morphodynamics using bioimage informatics
A. Dufour, A. Jonker, Jean-Christophe Olivo-Marin
2017Philosophical Transactions of the Royal Society B: Biological Sciences15 citations Open access
Semantic Scholar
Orphan and paediatric medical devices in Europe: recommendations to support their availability for on-label and off-label clinical indications
Tom Melvin, Marc Dooms, Berthold Koletzko, Mark A. Turner +4 more
2024Expert Review of Medical Devices10 citations Open access
Semantic Scholar
From roadmap to a sustainable end-to-end individualized therapy pathway
A. Jonker, E. Tataru, D. Dimmock, Alison Bateman-House +14 more
2025Therapeutic Advances in Rare Disease9 citations Open access
Semantic Scholar
The complexity of funding rare disease research: an IRDiRC assessment of the landscape
Lucia Monaco, M. C. V. Letinturier, Naohiko Aketa, Dimitrios Athanassiou +15 more
2024Rare Disease and Orphan Drugs Journal8 citations Open access
Semantic Scholar
IRDiRC: 1000 new rare diseases treatments by 2027, identifying and bringing forward strategic actions
V. Hivert, A. Jonker, Daniel O'Connor, D. Ardigò
2021Rare Disease and Orphan Drugs Journal8 citations Open access
Semantic Scholar
IRDiRC perspectives on the application of digital biomarkers in therapeutic development for rare diseases
Rajesh Krishna, A. Jonker, Thomas Morel, Ken Sakushima +2 more
2024Nature reviews. Drug discovery6 citations
Semantic Scholar
Sustainable approaches for drug repurposing in rare diseases: recommendations from the IRDiRC Task Force
G. Zanello, D. Ardigò, Florence Guillot, A. Jonker +4 more
2023Rare Disease and Orphan Drugs Journal6 citations Open access
Semantic Scholar
Drug-device combinations in rare diseases: Challenges and opportunities.
E. Tataru, M. Dooms, C. Gonzaga-Jauregui, A. M. Pasmooij +2 more
2025Drug Discovery Today5 citations Open access
Semantic Scholar
How to START? Four pillars to optimally begin your orphan drug development
A. Jonker, Liliana Batista, M. Gabaldo, V. Hivert +1 more
2023Orphanet Journal of Rare Diseases4 citations Open access
Semantic Scholar
Applying the international rare disease research consortium (IRDiRC) N-of-1 therapy task force eligibility criteria for individualised therapies use case: Duchenne muscular dystrophy.
A. Aartsma-Rus, A. Jonker, Daniel O'Connor
2025Neuromuscular Disorders2 citations Open access
Semantic Scholar
Access in the rare diseases landscape.
A. Jonker, Maria Cavaller-Bellaubi, Yukiko Nishimura, David A Pearce
2024Lancet Global Health2 citations Open access
Semantic Scholar
Synthetic Lethality and Metabolism in Ewing Sarcoma : Knowledge Through Silence
A. Jonker
20142 citations
Semantic Scholar
Medical device development and innovation for rare and pediatric populations: a global landscape overview
Marc Dooms, D. O'Connor, T. Melvin, Friederike Mueller +4 more
2026Orphanet Journal of Rare Diseases1 citations Open access
Semantic Scholar
Lessons learned from the RE(ACT) Conference on Medical Devices for Rare Diseases.
A. Jonker, Tim Buckinx, Lucia Pannese, P. Klap +2 more
2024European Journal of Medical Genetics1 citations Open access
Semantic Scholar
Challenges and opportunities for the use of telehealth in rare disease diagnosis, treatment, research, and education: key opinion leader interviews by the IRDiRC telehealth task force
Melissa A. Parisi, Adam L. Hartman, M. C. V. Letinturier, E. Tataru +16 more
2026Therapeutic Advances in Rare Disease0 citations Open access
Semantic Scholar
Reinvigorating the possibilities: Drug repurposing as a strategic access pathway for rare diseases
A. Jonker, D. O'Connor, Alexandre Mejat, Philip Gribbon +4 more
2026Translational Science of Rare Diseases0 citations Open access
Semantic Scholar
Unveiling the depth of the knowledge gap in the Universe of Rare Diseases: the PLUTO mission
D. Ardigò, Francesco Bianchi, Maria Cristina Bosio, Alessia Simonini +8 more
2026Orphanet Journal of Rare Diseases0 citations Open access
Semantic Scholar
The FAIR journey of a patient-driven registry: Reflections and practical solutions from the Duchenne Data Platform FAIRification experience
Nawel Lalout, Mark D. Wilkinson, D. Wandrei, A. Tassoni +15 more
2025Journal of Neuromuscular Diseases0 citations Open access
Semantic Scholar
Dynamic oncogene activity metabolically reprograms the tryptophan– kynurenine–AHR axis driving immune evasion and tumor progression in Ewing sarcoma
Martha J. Carreño-Gonzalez, Kimberley M. Hanssen, A. Sadik, Alessa L. Henneberg +17 more
2025bioRxiv0 citations Open access
Semantic Scholar
A landscape map of the key global rare disease organizations
A. Jonker, D. O'Connor
2024Rare Disease and Orphan Drugs Journal0 citations Open access
Semantic Scholar

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