Aachen papers per year
Papers 27
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Epigenome-wide change and variation in DNA methylation in childhood: trajectories from birth to late adolescence2021 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access
Rosa H. Mulder, Alexander Neumann, Charlotte A. M. Cecil, Esther Walton, Lotte C. Houtepen, Andrew J. Simpkin, +10 more
190citations -
Longitudinal measures of RNA expression and disease activity in FSHD muscle biopsies2020 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 6 patents
Chao-Jen Wong, Leo H. Wang, Seth D. Friedman, Dennis Shaw, Amy E. Campbell, Christopher B. Budech, +6 more
84citations -
Genome-wide association study of circulating interleukin 6 levels identifies novel loci2021 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Tarunveer S. Ahluwalia, Bram Peter Prins, Nicola J. Armstrong, Stella Aslibekyan, Lisa Bain, Barbara J.M.H. Jefferis, +89 more
61citations -
Deleterious variants inCRLS1lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease2022 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Mitochondrial Function and Pathology Open access
Richard G. Lee, Shanti Balasubramaniam, Maike Stentenbach, Thomas Kralj, Tim McCubbin, Benjamin Scott Padman, +23 more
42citations -
C/D box snoRNA SNORD113-6/AF357425 plays a dual role in integrin signalling and arterial fibroblast function via pre-mRNA processing and 2′O-ribose methylation2021 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Eva van Ingen, Daphne A. L. van den Homberg, M. Leontien van der Bent, Hailiang Mei, Nikolina Papac-Miličević, Veerle Kremer, +4 more
27citations -
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating2021 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Georgios Tachtsidis, Claudia Schob, Mahmoud Koko, Ulrike B. S. Hedrich, Holger Lerche, Johannes R. Lemke, +16 more
24citations -
Elevated plasma complement components in facioscapulohumeral dystrophy2021 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Chao-Jen Wong, Leo L. Wang, V. Michael Holers, Ashley A. Frazer‐Abel, Silvère M. van der Maarel, Rabi Tawil, +2 more
21citations -
Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression2024 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 2 patents
Chao-Jen Wong, Seth D. Friedman, Lauren D. Snider, Sean R. Bennett, Takako Iida Jones, Peter L. Jones, +10 more
21citations -
Epigenotype–genotype–phenotype correlations in SETD1A and SETD2 chromatin disorders2023 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Sunwoo Liv Lee, Lara A. Menzies, Eleanor Hay, Eguzkine Ochoa, France Docquier, Fay Rodger, +16 more
18citations -
Direct evaluation of neuroaxonal degeneration with the causative genes of neurodegenerative diseases in Drosophila using the automated axon quantification system, MeDUsA2023 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Cell Image Analysis Techniques Open access
Yohei Nitta, Hiroki Kawai, Ryuto Maki, Jiro Osaka, Satoko Hakeda‐Suzuki, Yoshitaka Nagai, +7 more
17citations -
High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect2021 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access cited by 1 patent
Richard J.L.F. Lemmers, Patrick J. van der Vliet, David San León, Nienke van der Stoep, Henk P.J. Buermans, Robin van Schendel, +10 more
17citations -
snRNA-seq analysis in multinucleated myogenic FSHD cells identifies heterogeneous FSHD transcriptome signatures associated with embryonic-like program activation and oxidative stress-induced apoptosis2023 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Dongxu Zheng, Annelot Wondergem, Susan L. Kloet, Iris M. Willemsen, Judit Balog, Stephen J. Tapscott, +3 more
15citations -
Small molecule 1a reduces FMRpolyG-mediated toxicity in in vitro and in vivo models for FMR1 premutation2021 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Saif N. Haify, Ronald A.M. Buijsen, Lucas Verwegen, Lies‐Anne Severijnen, Helen de Boer, Valerie Boumeester, +6 more
14citations -
Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1 -associated neurodevelopmental disorders2022 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Stacey R McGee, Shivakumar Rajamanickam, Sandeep Adhikari, Oluwatosin C Falayi, Theresa A. Wilson, Brian J. Shayota, +18 more
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 Chromatin Dynamics Open access
Malvin Jefri, Xin Zhang, Patrick S. Stumpf, Li Zhang, Huashan Peng, Nuwan C. Hettige, +12 more
12citations -
FOXG1 targets BMP repressors and cell cycle inhibitors in human neural progenitor cells2023 Human Molecular Genetics article Neuroscience Neurogenesis and neuroplasticity mechanisms Open access
Nuwan C. Hettige, Amelia Semenak, Xin Zhang, Huashan Peng, Marc-Daniel Hagel, Jean‐François Théroux, +8 more
12citations
Most active Aachen authors
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Silvère M. van der Maarel 21,665 citations overall6 papers
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Arie van Haeringen 9,038 citations overall3 papers
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Richard J.L.F. Lemmers 8,875 citations overall3 papers
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J. Wouter Jukema 132,974 citations overall2 papers
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Stella Trompet 55,463 citations overall2 papers
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Marian Beekman 34,063 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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Emilia K. Bijlsma 5,852 citations overall2 papers
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Andreas Schuppert 3,628 citations overall2 papers
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Ronald A.M. Buijsen 1,955 citations overall2 papers
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Patrick S. Stumpf 1,466 citations overall2 papers
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Steve Eric Humphries 109,114 citations overall1 paper
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P. Eline Slagboom 86,233 citations overall1 paper
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Frits Richard Rosendaal 76,667 citations overall1 paper