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Papers 184
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A Homozygous CPSF1 Variant Causes Congenital Cataract, Intellectual Disability and Hyperphagia2026 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
Ozge Aksel Kilicarslan, Andrea Gangfuß, Andreas Hentschel, Heike Kölbel, David Muhmann, Ana Töpf, +10 more
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monarch-initiative/mondo: v2026-01-062026 Zenodo (CERN European Organization for Nuclear Research) software Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Nicole Vasilevsky, Chris J Mungall, Nicolas Matentzoglu, Sabrina Toro, Trish Whetzel, MeeSiing Ngu, +20 more
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monarch-initiative/mondo: v2026-03-032026 Zenodo (CERN European Organization for Nuclear Research) software Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Nicole Vasilevsky, Chris J Mungall, Nicolas Matentzoglu, Sabrina Toro, Trish Whetzel, MeeSiing Ngu, +20 more
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monarch-initiative/mondo: v2026-05-052026 Zenodo (CERN European Organization for Nuclear Research) software Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Nicole Vasilevsky, Chris J Mungall, Nicolas Matentzoglu, Sabrina Toro, Trish Whetzel, MeeSiing Ngu, +21 more
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monarch-initiative/mondo: v2026-06-022026 Zenodo (CERN European Organization for Nuclear Research) software Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Nicole Vasilevsky, Chris J Mungall, Nicolas Matentzoglu, Sabrina Toro, Trish Whetzel, MeeSiing Ngu, +21 more
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Genosolver: Rare Disease Diagnosis through Holistic Integration of Unstructured Clinical Narratives Using Large Language and Reasoning Models2026 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Tanhim Islam, Martin Danner, Zain Ziad, Matthias Begemann, Danique Beijer, Annette Lischka, +21 more
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Consensus framework to assess eligibility of genes and hereditary diseases for genetic therapy development2026 Zenodo (CERN European Organization for Nuclear Research) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Emilio Dirk Raymond Oriole Harris-Mostert, Annelot C. M. van Esbroeck, David Cheerie, Kai Lee Yap, Christiana Wang, Rosan L. Lechner, +30 more
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Consensus framework to assess eligibility of genes and hereditary diseases for genetic therapy development2026 Zenodo (CERN European Organization for Nuclear Research) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Emilio Dirk Raymond Oriole Harris-Mostert, Annelot C. M. van Esbroeck, David Cheerie, Kai Lee Yap, Christiana Wang, Rosan L. Lechner, +30 more
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monarch-initiative/mondo: v2026-09-012026 Zenodo (CERN European Organization for Nuclear Research) software Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Nicole Vasilevsky, Chris J Mungall, Nicolas Matentzoglu, Sabrina Toro, MeeSiing Ngu, Trish Whetzel, +21 more
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Access to Genetic Testing in Patients With Suspected Genetic Kidney Disease in Europe2026 Kidney International Reports article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Margriet E. Gosselink, Femke Buining, Jens König, A. Titia Lely, Henk Groen, Laura R. Claus, +7 more
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Genetic testing and reporting: what the endocrinologists should know and can expect (joint position paper of the ENDO-ERN)2026 European Journal of Endocrinology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Thomas Eggermann, Dorte Launholt Lildballe, Martine Cools, Bernadette van Nesselrooij, Vassos Neocleous, Pavlos Fanis, +20 more
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Additional file 2 of Genolator enables protein function interpretation using a multimodal large language model fusing genomic and structural interpretation with natural language interaction2026 Figshare dataset Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Martin Danner, Tanhim Islam, Matthias Begemann, Florian Kraft, Miriam Elbracht, Ingo Kurth, +1 more
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Additional file 2 of Genolator enables protein function interpretation using a multimodal large language model fusing genomic and structural interpretation with natural language interaction2026 Figshare dataset Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Martin Danner, Tanhim Islam, Matthias Begemann, Florian Kraft, Miriam Elbracht, Ingo Kurth, +1 more
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Why Non-ASCII Unicode Characters Should Not Be Used in the Human Genome Variation Society Nomenclature2026 Journal of Molecular Diagnostics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Raymond Dalgleish, Peter J. Freeman, John F. Wagstaff, Elspeth A. Bruford, Ivo F.A.C. Fokkema
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Correction: KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants2020 Genetics in Medicine erratum Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Joanna Kennedy, David R. Goudie, Edward M. Blair, Kate Chandler, Shelagh K. Joss, Victoria H. McKay, +49 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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Gijs W.E. Santen 7,222 citations overall14 papers
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