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184
Aachen papers (primary topic)
654
Further papers (secondary topic)
2.14k
Citations
194
Aachen authors
Papers per year
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Papers 184
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A stepwise short- and long-read whole genome sequencing strategy resolves previous genetically unresolved inherited retinal disease cases2026 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Kim Rodenburg, Stefanida Shliaga, Lonneke Haer‐Wigman, Anneke T. Vulto‐van Silfhout, Erica G. M. Boonen, Lara K. Holtes, +24 more
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Exploring national support mechanisms for European reference network centres2026 European Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Vojtěch Šimka, Jana Jedličková, Nela Navrátilová, Ondřej Hynek, Valentina Sand, Mari Murel, +3 more
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Most active Aachen authors
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Johan T. den Dunnen 36,695 citations overall19 papers
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Ingo Kurth 13,878 citations overall17 papers
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Thomas Eggermann 17,116 citations overall14 papers
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Florian Kraft 1,331 citations overall11 papers
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Annemieke M Aartsma-Rus 20,730 citations overall10 papers
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Marlen C. Lauffer 528 citations overall10 papers
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Alberto M. Pereira 22,314 citations overall9 papers
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Emilia K. Bijlsma 5,852 citations overall8 papers
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Robert Meyer 1,775 citations overall8 papers
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Pleuntje J. van der Sluijs 694 citations overall8 papers
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Ivo F.A.C. Fokkema 3,385 citations overall7 papers
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