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Papers per year
Papers 184
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Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Morad Ansari, Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica Rose Denhoff, +48 more
1citations -
PhenomAD-NDD: the Phenomics Aggregation Database of comorbidities in 51,227 pediatric individuals with NeuroDevelopmental Disorders2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Alexander J.M. Dingemans, Sandra Jansen, Jeroen van Reeuwijk, Nicole de Leeuw, Rolph Pfundt, Janneke H. M. Schuurs-Hoeijmakers, +12 more
1citations -
Author Correction: Standardizing variant naming in literature with VariantValidator to increase diagnostic rates2024 Nature Genetics erratum Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
John F. Wagstaff, Ivo F.A.C. Fokkema, Garry R. Cutting, Heidi L. Rehm, Angela C. Davies, Johan T. den Dunnen, +2 more
1citations -
A scalable and equitable framework for target and patient prioritisation in rare disease antisense therapeutics2026 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Ella F. Whittle, Kylie-Ann Montgomery, Carme Camps, Nour Elkhateeb, Catherine Ryan, Sara Aguti, +26 more
1citations -
Dual Guidance Structure for Evaluation of Patients with Unclear Diagnosis in Centers for Rare Diseases (ZSE-DUO): Study Protocol for a Controlled Multi-center Cohort Study2021 Research Square preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Helge U. Hebestreit, Cornalia Zeigler, Christopher Schippers, Martina de Zwaan, Jürgen Deckert, Peter Ulrich Heuschmann, +27 more
0citations -
Exomsequenzierung bei Kindern und Jugendlichen mit seltenen Erkrankungen2021 Monatsschrift Kinderheilkunde article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
Tasja Scholz, Andreas Dufke, Tobias B. Haack, Miriam Elbracht, Thomas Eggermann, Cristiana Roggia, +3 more
0citations -
Added Value of a Mental Health Specialist for Evaluation of Undiagnosed Patients in Centres for Rare Diseases – The ZSE-DUO Cohort Study2023 SSRN Electronic Journal preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Helge U. Hebestreit, Anne-Marie Lapstich, Lilly Brandstetter, Christian Krauth, Jürgen Deckert, Kirsten Haas, +22 more
0citations -
Mutational Constraint Analysis Workflow for Overlapping Short Open Reading Frames and Genomic Neighbours2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Martin Danner, Matthias Begemann, Florian Kraft, Miriam Elbracht, Ingo Kurth, Jeremias Krause
0citations -
A Complex Structural Variation and a Nonsense Variant in trans Cause the VPS50-Related Disorder2024 Neuropediatrics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
Laura Hecher, Esther Gorski-Alberts, Matthias Begemann, J. Herwig, Eva Lausberg, Georg Hillebrand, +4 more
0citations -
131P Benchmarking whole exome sequencing in the German network for personalized medicine2024 ESMO Open article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Michael Menzel, Mihaela Martis-Thiele, H. Goldschmid, A. Ott, Eva Romanovsky, Janna Siemanowski, +13 more
0citations -
Utilizing protein structure graph embeddings to predict the pathogenicity of missense variants2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Martin Danner, Matthias Begemann, Miriam Elbracht, Ingo Kurth, Jeremias Krause
0citations -
Mutational constraint analysis workflow for overlapping short open reading frames and genomic neighbors2025 BMC Genomics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Martin Danner, Matthias Begemann, Florian Kraft, Miriam Elbracht, Ingo Kurth, Jeremias Krause
0citations -
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings2025 Nature Genetics erratum Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung‐Chien Hsieh, +92 more
0citations
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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Miriam Elbracht 3,584 citations overall16 papers
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Thomas Eggermann 17,116 citations overall14 papers
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Gijs W.E. Santen 7,222 citations overall14 papers
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Matthias Begemann 4,069 citations overall13 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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Jeremias Krause 2,868 citations overall7 papers