Aachen papers per year
Papers 8
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Inherited cases of CNOT3 ‐associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies2020 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Robert Meyer, Matthias Begemann, Stephanie Demuth, Florian Kraft, Daniela Dey, Herdit M. Schüler, +6 more
25citations -
upd(20)mat is a rare cause of the Silver‐Russell‐syndrome‐like phenotype: Two unrelated cases and screening of large cohorts2020 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Tina Duelund Hjortshøj, Melodi Yusibova, Morten Dunø, Marie Balslev‐Harder, Karen Grønskov, Johanna M. van Hagen, +4 more
13citations -
Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 ( H19 / IGF2 : TSS‐DMR ) in 11p15.52020 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting
Thomas Eggermann, Florian Kraft, Katja Kloth, Eva Klopocki, Irina Hüning, Maja Hempel, +1 more
7citations -
Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study2024 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Luise Kessler, Jeremias Krause, Florian Kraft, Asmaa K. Amin, György Fekete, Anna Lengyel, +7 more
3citations -
Expanding the Genetic and Phenotypic Spectrum of POLRMT ‐Related Mitochondrial Disease2025 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Mitochondrial Function and Pathology Open access
Mahmoud R. Fassad, Sebastian Valenzuela, Monika Oláhová, Jack J. Collier, Charlotte V. Y. Knowles, Miriam Elbracht, +14 more
3citations -
Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype–Phenotype Correlation2026 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Anastasia Maria Licata, Elke Botzenhart, Katja Kloth‐Stachnau, Thomas Eggermann
1citations -
A Homozygous CPSF1 Variant Causes Congenital Cataract, Intellectual Disability and Hyperphagia2026 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
Ozge Aksel Kilicarslan, Andrea Gangfuß, Andreas Hentschel, Heike Kölbel, David Muhmann, Ana Töpf, +10 more
0citations -
Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype–Phenotype Correlation2026 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Anastasia Maria Licata, Elke Botzenhart, Katja Kloth‐Stachnau, Thomas Eggermann
0citations
8 results
Most active Aachen authors
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Thomas Eggermann 17,116 citations overall6 papers
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Ingo Kurth 13,878 citations overall4 papers
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Florian Kraft 1,331 citations overall4 papers
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Miriam Elbracht 3,584 citations overall2 papers
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Anastasia Maria Licata 1 citations overall2 papers
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Klaus Zerres 23,212 citations overall1 paper
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Martin Häusler 6,314 citations overall1 paper
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Matthias Begemann 4,069 citations overall1 paper
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Jeremias Krause 2,868 citations overall1 paper
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Katja Eggermann 2,387 citations overall1 paper
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Robert Meyer 1,775 citations overall1 paper
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Cordula Knopp 872 citations overall1 paper
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Herdit M. Schüler 813 citations overall1 paper
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Andrea Maier 341 citations overall1 paper
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Annette Lischka 323 citations overall1 paper