Aachen papers per year
Papers 27
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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 -
HGVS Nomenclature 2024: improvements to community engagement, usability, and computability2024 Genome Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Reece K. Hart, Ivo F.A.C. Fokkema, Marina T. DiStefano, Ros J. Hastings, Jeroen F. J. Laros, Rachel L. Taylor, +2 more
65citations -
Breast cancer risks associated with missense variants in breast cancer susceptibility genes2022 Genome Medicine article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Leila Dorling, Sara Carvalho, Jamie Allen, Michael T. Parsons, Cristina Fortuño, Anna González‐Neira, +90 more
60citations -
Microbiota-associated risk factors for asymptomatic gut colonisation with multi-drug-resistant organisms in a Dutch nursing home2021 Genome Medicine article Biochemistry, Genetics and Molecular Biology Antibiotic Resistance in Bacteria Open access
Quinten R. Ducarmon, Elisabeth M. Terveer, Sam Nooij, Michelle N. Bloem, Karuna E.W. Vendrik, Monique A. A. Caljouw, +5 more
37citations -
Long-term beneficial effect of faecal microbiota transplantation on colonisation of multidrug-resistant bacteria and resistome abundance in patients with recurrent Clostridioides difficile infection2024 Genome Medicine article Medicine Clostridium difficile and Clostridium perfringens research Open access
Sam Nooij, Karuna E.W. Vendrik, Romy Daniëlle Zwittink, Quinten R. Ducarmon, Josbert J. Keller, Ed J. Kuijper, +1 more
33citations -
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome2022 Genome Medicine article Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Margot A. Cousin, Emma L. Veale, Nikita R. Dsouza, Swarnendu Tripathi, Robyn G. Holden, Maria Arélin, +64 more
25citations -
Epigenetic timing effects on child developmental outcomes: a longitudinal meta-regression of findings from the Pregnancy And Childhood Epigenetics Consortium2025 Genome Medicine article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access
Alexander Neumann, Sara Sammallahti, Marta Cosín‐Tomás, Sarah E. Reese, Matthew J Suderman, Silvia Alemany, +60 more
17citations -
Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry2023 Genome Medicine article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Stefanie H. Mueller, Alvina Grace Lai, Maria Valkovskaya, Kyriaki Michailidou, Manjeet K. Bolla, Qin Wang, +91 more
15citations -
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity2023 Genome Medicine article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Sheng‐Jia Lin, Barbara Vona, Tracy Lau, Kevin Huang, Maha Saad Zaki, Huda Shujaa Aldeen, +31 more
14citations -
Discovering novel germline genetic variants linked to severe fluoropyrimidine-related toxicity in- and outside DPYD2024 Genome Medicine article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Jonathan Emanuel Knikman, Qinglian Zhai, Carin A.T.C. Lunenburg, Linda M. Henricks, Stefan Böhringer, Maaike van der Lee, +22 more
13citations -
The genetics and epidemiology of N- and O-immunoglobulin A glycomics2024 Genome Medicine article Biochemistry, Genetics and Molecular Biology Glycosylation and Glycoproteins Research Open access
Alessia Visconti, Niccolò Rossi, Albert Bondt, Agnes L. Hipgrave Ederveen, Gaurav Thareja, Carolien A. M. Koeleman, +8 more
10citations -
Unified high-resolution immune cell fraction estimation in blood tissue from birth to old age2025 Genome Medicine article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access
Xiaolong Guo, Alexander Neumann, Shijie Zheng, Charlotte A. M. Cecil, Andrew Erich Teschendorff, Bastiaan T. Heijmans
10citations -
CACTUS: integrating clonal architecture with genomic clustering and transcriptome profiling of single tumor cells2021 Genome Medicine article Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access
Shadi Darvish Shafighi, Szymon M. Kiełbasa, Julieta Sepúlveda-Yáñez, Ramin Monajemi, Davy Cats, Hailiang Mei, +5 more
10citations -
Identification of a PRDM1-regulated T cell network to regulate atherosclerotic plaque inflammation2025 Genome Medicine article Immunology and Microbiology Atherosclerosis and Cardiovascular Diseases Open access
Han Young Jin, Sanne Lidewij Maas, Yuchi Zou, Chang Wei Lu, Baixue Yu, Rosanna Huchzermeier, +12 more
5citations
Most active Aachen authors
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Quinten R. Ducarmon 2,109 citations overall3 papers
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Peter Devilee 60,996 citations overall2 papers
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Ed J. Kuijper 45,257 citations overall2 papers
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Bastiaan T. Heijmans 27,474 citations overall2 papers
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Elisabeth M. Terveer 3,926 citations overall2 papers
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Romy Daniëlle Zwittink 2,407 citations overall2 papers
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Karuna E.W. Vendrik 997 citations overall2 papers
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Sam Nooij 994 citations overall2 papers
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Ian P.M. Tomlinson 63,268 citations overall1 paper
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Hans A. J. Gelderblom 55,175 citations overall1 paper
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Julio Sáez-Rodríguez 48,113 citations overall1 paper
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Johan T. den Dunnen 36,695 citations overall1 paper
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Kamila Czene 34,800 citations overall1 paper
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Marjanka K. Schmidt 33,782 citations overall1 paper
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Manfred Wuhrer 32,864 citations overall1 paper