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Papers per year
Papers 184
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Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases2024 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Holm Graeßner, Carola Reinhard, Tobias Bäumer, Annette Baumgärtner, Knut Brockmann, Norbert Brüggemann, +25 more
4citations -
Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort study2025 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
David Cheerie, Marlen C. Lauffer, Logan Newton, Kimberly Amburgey, Danique Beijer, Bushra Haque, +14 more
4citations -
Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context2023 Research Square preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Michelle van Slobbe, Arie van Haeringen, Lisenka E.L.M. Vissers, Emilia K. Bijlsma, Julie W. Rutten, Manon Suerink, +3 more
4citations -
Enhancing Variant Prioritization in VarFish through On-Premise Computational Facial Analysis2024 Genes article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Meghna Ahuja Bhasin, Alexej Knaus, Pietro Incardona, Alexander Schmid, Manuel Holtgrewe, Miriam Elbracht, +2 more
3citations -
Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism2024 Annals of Clinical and Translational Neurology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Maike Franziska Dohrn, Güney Bademci, Adriana P. Rebelo, Médéric Jeanne, Nicholas A. Borja, Danique Beijer, +6 more
3citations -
Interventional genomics: Bridging germline diagnosis and therapeutic action2026 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
Petros Giannikopoulos, Marlen C. Lauffer, Christian R. Marshall, Gregory Costain, Zhiyv Niu, David Bick, +5 more
3citations -
The patient with 41 reports: Analysis of laboratory exome sequencing reporting of a “virtual patient”2022 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Danya F. Vears, Martin Elferink, Marjolein Kriek, Pascal Borry, Koen L.I. van Gassen
3citations -
Electronic reporting of rare endocrine conditions within a clinical network: results from the EuRRECa project2023 Endocrine Connections article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Salma Ali, Jillian Bryce, Ana L. Priego-Zurita, М. С. Черенько, T M de Rooij, Martine Cools, +15 more
3citations -
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features2024 Human Genetics and Genomics Advances article 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, +49 more
3citations -
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant2021 European Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Elke de Boer, Burcu Yaldız, Anne‐Sophie Denommé‐Pichon, Leslie Matalonga, Steven Laurie, Wouter Steyaert, +67 more
3citations -
Imbalanced expression for predicted high-impact, autosomal-dominant variants in a cohort of 3,818 healthy samples2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Niek de Klein, Freerk van Dijk, Patrick Deelen, Carlos G. Urzúa-Traslaviña, Annique Claringbould, Urmo Võsa, +6 more
3citations -
A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort2025 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Sarah Fazal, Harriet Dashnow, Maike Franziska Dohrn, Jacquelyn Schatzman Raposo, Laurel Hiatt, Matt Christopher Danzi, +14 more
2citations -
Utilizing protein structure graph embeddings to predict the pathogenicity of missense variants2025 NAR Genomics and Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Martin Danner, Matthias Begemann, Miriam Elbracht, Ingo Kurth, Jeremias Krause
2citations
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