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Aachen papers per year
Papers 13
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Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders2021 Human Genetics and Genomics Advances article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access
Michael A. Levy, Haley McConkey, Jennifer Kerkhof, Mouna Barat‐Houari, Sara Bargiacchi, Elisa Biamino, +80 more
155citations -
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology2022 Human Genetics and Genomics Advances article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Andrew K. Sobering, Laura M. Bryant, Dong Li, Julie M. McGaughran, Isabelle Maystadt, Stéphanie Moortgat, +32 more
26citations -
Multi-ancestry genome-wide association study accounting for gene-psychosocial factor interactions identifies novel loci for blood pressure traits2020 Human Genetics and Genomics Advances article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Daokun Sun, Melissa A. Richard, Solomon K. Musani, Thomas W. Winkler, Karen Schwander, Jin Fang Chai, +90 more
15citations -
PABPN1 loss-of-function causes APA-shift in oculopharyngeal muscular dystrophy2024 Human Genetics and Genomics Advances article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access cited by 2 patents
Milad Shademan, Hailiang Mei, Baziel G.M. van Engelen, Yavuz Ariyürek, Susan L. Kloet, Vered Raz
13citations -
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools2025 Human Genetics and Genomics Advances article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Mark Drost, Jordy Dekker, Federico Ferraro, Esmee Kasteleijn, Hannie Douben, Leontine van Unen, +42 more
7citations -
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants2024 Human Genetics and Genomics Advances article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Liselot van der Laan, Peter Lauffer, Kathleen Rooney, Ananília Silva, Sadegheh Haghshenas, Raissa Relator, +26 more
4citations -
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 -
Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies2025 Human Genetics and Genomics Advances article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Emily E. Lubin, Elizabeth M. Gonzalez, Annabel K. Sangree, Emily L. Durham, Hannah Klinkhammer, Jingmei Li, +22 more
2citations -
Large-scale blood pressure GWAS accounting for gene-depression interactions in 564,680 individuals from diverse populations2026 Human Genetics and Genomics Advances article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Songmi LEE, Clint L. Miller, Amy R. Bentley, Michael F. Brown, Pavithra Nagarajan, Raymond Noordam, +92 more
1citations -
Clinical syndromes linked to biallelic germline variants in MCM8 and MCM92025 Human Genetics and Genomics Advances article Medicine Genetic factors in colorectal cancer Open access
Noah C. Helderman, Ting Yang, Claire Palles, Diantha Terlouw, Hailiang Mei, Ruben H.P. Vorderman, +34 more
1citations
13 results
Most active Aachen authors
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Emilia K. Bijlsma 5,852 citations overall3 papers
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Raymond Noordam 20,639 citations overall2 papers
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Hailiang Mei 10,927 citations overall2 papers
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Claudia A. L. Ruivenkamp 10,749 citations overall2 papers
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Carli M.J. Tops 9,657 citations overall2 papers
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Frits Richard Rosendaal 76,667 citations overall1 paper
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Alisa Knodle Manning 27,012 citations overall1 paper
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Christi J. van Asperen 17,282 citations overall1 paper
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Hans M. Morreau 15,442 citations overall1 paper
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Renée de Mutsert 11,946 citations overall1 paper
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Tom van Wezel 11,189 citations overall1 paper
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Arie van Haeringen 9,038 citations overall1 paper
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Gijs W.E. Santen 7,222 citations overall1 paper
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Maartje Nielsen 7,134 citations overall1 paper
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Yvonne Hilhorst‐Hofstee 6,532 citations overall1 paper