Aachen papers per year
21
22
23
24
25
Papers 8
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BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease2022 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Legionella and Acanthamoeba research Open access
Adriana P. Rebelo, Ariel Ruiz, Maike Franziska Dohrn, Melanie Wayand, Amjad Farooq, Matt Christopher Danzi, +12 more
32citations -
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 -
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence2023 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Skin and Cellular Biology Research Open access
Luisa Averdunk, Maxim A. Huetzen, Daniel Moreno-Andrés, Reinhard Kalb, Shane A McKee, Tzung‐Chien Hsieh, +25 more
18citations -
AUTS2-related syndrome: Insights from a large European cohort2025 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Lorenzo Loberti, Loredaria Adamo, Giulia Casamassima, Anne Destrèe, Nicola Brunetti‐Pierri, David Geneviève, +66 more
6citations -
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia2024 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Maria Asif, Arwa Ishaq A. Khayyat, Salem Alawbathani, Uzma Abdullah, Anne Sanner, Theodoros Georgomanolis, +17 more
2citations
8 results
Most active Aachen authors
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Miriam Elbracht 3,584 citations overall3 papers
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Maike Franziska Dohrn 995 citations overall2 papers
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Peter Boor 25,963 citations overall1 paper
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Ingo Kurth 13,878 citations overall1 paper
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Wolfram Antonin 6,663 citations overall1 paper
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Martin C. H. Haeusler 4,965 citations overall1 paper
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Matthias Begemann 4,069 citations overall1 paper
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Verena von Felbert 1,543 citations overall1 paper
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Florian Kraft 1,331 citations overall1 paper
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Cordula Knopp 872 citations overall1 paper
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Daniel Moreno-Andrés 814 citations overall1 paper
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Sonja Trepels‐Kottek 460 citations overall1 paper
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Torsten H. Voigt 380 citations overall1 paper
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Andrea Maier 341 citations overall1 paper
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Dimah Hasan 187 citations overall1 paper