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Papers per year
Papers 61
Open in paper search →-
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders2020 Genome Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Dennis Lal, Patrick May, Eduardo Pérez‐Palma, Kaitlin E. Samocha, Jack A. Kosmicki, Elise Robinson, +24 more
72citations -
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings2024 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung‐Chien Hsieh, +93 more
56citations -
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies2021 Journal of Neurology Neurosurgery & Psychiatry article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Simona Balestrini, Daniela Chiarello, Μαρία Γώγου, Katri Silvennoinen, Clinda Puvirajasinghe, Wendy D. Jones, +21 more
49citations -
Deep structured learning for variant prioritization in Mendelian diseases2023 Nature Communications article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Matt Christopher Danzi, Maike Franziska Dohrn, Sarah Fazal, Danique Beijer, Adriana P. Rebelo, Vívian Pedigone Cintra, +1 more
46citations -
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies2020 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Peter D. Galer, Shiva Ganesan, David J. Lewis-Smith, Sarah McKeown Ruggiero, Manuela Pendziwiat, Katherine L. Helbig, +12 more
46citations -
Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)2020 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Thomas Eggermann, Miriam Elbracht, Ingo Kurth, Anders Juul, Trine Holm Johannsen, Irène Netchine, +88 more
28citations -
Inherited cases of CNOT3 ‐associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies2020 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Robert Meyer, Matthias Begemann, Stephanie Demuth, Florian Kraft, Daniela Dey, Herdit M. Schüler, +6 more
25citations -
Structural mapping of GABRB3 variants reveals genotype–phenotype correlations2021 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Katrine M. Johannesen, Sumaiya Iqbal, Milena Guazzi, Nazanin A. Mohammadi, Eduardo Pérez‐Palma, Élise Schaefer, +40 more
23citations -
Role of Common Genetic Variants for Drug-Resistance to Specific Anti-Seizure Medications2021 Frontiers in Pharmacology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Stefan Wolking, Ciarán Campbell, Caragh P. Stapleton, Mark McCormack, Norman Delanty, Chantal Depondt, +12 more
22citations -
Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung‐Chien Hsieh, +94 more
15citations -
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity2023 Genome Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Sheng‐Jia Lin, Barbara Vona, Tracy Lau, Kevin Huang, Maha Saad Zaki, Huda Shujaa Aldeen, +31 more
14citations -
Rare Diseases in Hospital Information Systems—An Interoperable Methodology for Distributed Data Quality Assessments2023 Methods of Information in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Kais Tahar, Yongli Mou, Raphael Verbuecheln, Holm Graeßner, Dagmar Krefting
13citations -
Kabuki syndrome stem cell models reveal locus specificity of histone methyltransferase 2D (KMT2D/MLL4)2022 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Malvin Jefri, Xin Zhang, Patrick S. Stumpf, Li Zhang, Huashan Peng, Nuwan C. Hettige, +12 more
12citations -
Die Medizininformatik-Initiative und Seltene Erkrankungen: Routinedaten der nächsten Generation für Diagnose, Therapiewahl und Forschung7citations
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Effect of the addition of a mental health specialist for evaluation of undiagnosed patients in centres for rare diseases (ZSE-DUO): a prospective, controlled trial with a two-phase cohort design2023 EClinicalMedicine article 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, +83 more
6citations -
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 study2022 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Helge U. Hebestreit, Cornelia Zeidler, Christopher Schippers, Martina de Zwaan, Jürgen Deckert, Peter Ulrich Heuschmann, +86 more
6citations -
RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets2025 npj Genomic Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Adam S L Graefe, Filip Rehburg, Samer Alkarkoukly, Daniel Daniš, Ana Grönke, Miriam R. Hübner, +22 more
4citations -
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
Most active Aachen authors
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Ingo Kurth 13,878 citations overall13 papers
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Miriam Elbracht 3,584 citations overall12 papers
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Florian Kraft 1,331 citations overall12 papers
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Matthias Begemann 4,069 citations overall10 papers
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Yvonne G. Weber 14,228 citations overall7 papers
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Jeremias Krause 2,868 citations overall7 papers
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Jörg Bernhard Schulz 44,963 citations overall6 papers
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Thomas Eggermann 17,116 citations overall6 papers
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Christopher Schippers 25 citations overall6 papers
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Martin Danner 2 citations overall6 papers
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Stefan Wolking 2,898 citations overall5 papers
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Jean Tori Pantel 732 citations overall4 papers
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Tanhim Islam 358 citations overall4 papers
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Rainer Röhrig 3,684 citations overall3 papers
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Martin Mücke 2,788 citations overall3 papers