Aachen papers per year
Papers 51
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PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework2023 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access cited by 1 patent
Alexander J.M. Dingemans, Max Hinne, Kim M. G. Truijen, Lia C. M. J. Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw, +27 more
82citations -
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders2023 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Alfredo M. Valencia, Akshay Sankar, Pleuntje J. van der Sluijs, F. Kyle Satterstrom, Jack M. Fu, Michael E. Talkowski, +3 more
76citations -
Adult human kidney organoids originate from CD24+ cells and represent an advanced model for adult polycystic kidney disease2022 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access cited by 1 patent
Yaoxian Xu, Christoph Kuppe, Javier Perales-Patón, Sikander Hayat, Jennifer Kranz, Ali Taleb Abdallah, +33 more
67citations -
Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk2023 Nature Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Naomi Wilcox, Martine Dumont, Anna González‐Neira, Charles Joly Beauparlant, Marco Crotti, Craig Luccarini, +56 more
67citations -
Saturation genome editing of BAP1 functionally classifies somatic and germline variants2024 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Andrew J. Waters, Timothy Brendler-Spaeth, Danielle Smith, Victoria Offord, Hong Kee Tan, Yajie Zhao, +15 more
58citations -
Genome-wide association study meta-analysis provides insights into the etiology of heart failure and its subtypes2025 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Albert Carl Henry, Xiaodong Mo, Chris Finan, Mark D. Chaffin, Doug Speed, Hanane G. Issa, +91 more
57citations -
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 -
Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases2025 Nature Genetics review Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Carolina Roselli, Ida L. Surakka, MORTEN SALLING OLESEN, Garðar Sveinbjörnsson, Nicholas Marston, Seung Hoan Choi, +94 more
56citations -
Standardizing variant naming in literature with VariantValidator to increase diagnostic rates2024 Nature Genetics article 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
19citations -
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa2026 Nature Genetics article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková, Karolina Kamińska, Suzanne E. de Bruijn, Ana Belén Iglesias-Romero, +94 more
16citations -
p53 inactivation drives breast cancer metastasis to the brain through SCD1 upregulation and increased fatty acid metabolism2025 Nature Genetics article Biochemistry, Genetics and Molecular Biology Cancer, Lipids, and Metabolism
Kathrin Laue, Sabina Pozzi, Johanna Zerbib, Rebecca Bertolio, Yonatan Eliezer, Yael Cohen‐Sharir, +37 more
11citations -
Mutational scanning reveals oncogenic CTNNB1 mutations have diverse effects on signaling2026 Nature Genetics article Biochemistry, Genetics and Molecular Biology Wnt/β-catenin signaling in development and cancer Open access
Anagha Krishna, Alison M. Meynert, Karamjit Singh Dolt, Martijn J. E. Kelder, Agavni Mesropian, Ailith Ewing, +21 more
11citations -
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies2026 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Elsa Leitão, Amandine Santini, Benjamin Cogné, Miriam Essid, Maria Athanasiadou, Christy W. LaFlamme, +94 more
7citations
Most active Aachen authors
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Peter Devilee 60,996 citations overall6 papers
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Raymond Noordam 20,639 citations overall5 papers
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Stella Trompet 55,463 citations overall4 papers
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Ruifang Li‐Gao 13,602 citations overall4 papers
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Tom W. J. Huizinga 99,423 citations overall3 papers
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André Gerardus Uitterlinden 258,111 citations overall2 papers
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J. Wouter Jukema 132,974 citations overall2 papers
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P. Eline Slagboom 86,233 citations overall2 papers
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René E. M. Toes 50,376 citations overall2 papers
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Johan T. den Dunnen 36,695 citations overall2 papers
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Dennis O. Mook‐Kanamori 21,746 citations overall2 papers
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Rebekka K. Schneider 12,926 citations overall2 papers
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Gijs W.E. Santen 7,222 citations overall2 papers
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Charlotte A. M. Cecil 6,684 citations overall2 papers
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Sikander Hayat 6,065 citations overall2 papers