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Maternal uniparental disomy of chromosome 7: how chromosome 7-encoded imprinted genes contribute to the Silver–Russell phenotype2025 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Matthias Begemann, Anna Lengyel, Éva Pinti, Árpád Ferenc Kovács, György Fekete, Svea Stratmann, +4 more
6citations -
A human somatic cell culture system for modelling gene silencing by transcriptional interference2020 Heliyon article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access cited by 1 patent
Theresa Kühnel, Helena Heinz, Nadja Utz, Tanja Božić, Bernhard Horsthemke, Laura Steenpaß
5citations -
Growth Restriction and Genomic Imprinting-Overlapping Phenotypes Support the Concept of an Imprinting Network2021 Genes article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Thomas Eggermann, Justin Huw Davies, M. Tauber, Erica L T van den Akker, Anita C. S. Hokken‐Koelega, Gudmundur Johansson, +1 more
38citations -
Transcriptionally imprinted glycomic signatures of acute myeloid leukemia2023 Cell & Bioscience article Biochemistry, Genetics and Molecular Biology Glycosylation and Glycoproteins Research Open access
Constantin Blöchl, Di Wang, Oleg A. Mayboroda, Guinevere S. M. Lageveen‐Kammeijer, Manfred Wuhrer
15citations -
A proteomics study identifying interactors of the FSHD2 gene product SMCHD1 reveals RUVBL1-dependent DUX4 repression2021 Scientific Reports article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Remko Goossens, Mara S. Tihaya, Anita van den Heuvel, Klorane Tabot-Ndip, Iris M. Willemsen, Stephen J. Tapscott, +5 more
5citations -
Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences2020 Human Reproduction Update article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Miriam Elbracht, Deborah Mackay, Matthias Begemann, Karl Oliver Kagan, Thomas Eggermann
105citations -
A novel genetic strategy to interrogate an unknown phenotypic modifier: Sdhc KO-Robertsonian mice develop frequent thyroid abnormalities with papillary thyroid carcinoma-like features0citations
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First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders2022 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Deborah Mackay, Jet Bliek, Masayo Kagami, Jair Antonio Tenorio, Arrate Pereda, Frédéric Brioude, +23 more
36citations -
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome2022 Genome Medicine article Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Margot A. Cousin, Emma L. Veale, Nikita R. Dsouza, Swarnendu Tripathi, Robyn G. Holden, Maria Arélin, +64 more
25citations -
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 -
Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences2022 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Thomas Eggermann, Elzem Yapici, Jet Bliek, Arrate Pereda, Matthias Begemann, Silvia Russo, +13 more
56citations -
A perspective on causality assessment in epigenetic research on neurodegenerative disorders2022 Neural Regeneration Research article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access
Philippos Koulousakis, Assia Tiane, Niels Hellings, Jos Prickaerts, Daniël van den Hove, Tim Vanmierlo
8citations -
Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis2024 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Deborah Mackay, Gabriella E. Gazdagh, David Monk, Frédéric Brioude, Éloïse Giabicani, Izabela M. Krzyzewska, +26 more
25citations -
Genomic signatures of past megafrugivore‐mediated dispersal in Malagasy palms2024 Journal of Ecology article Biochemistry, Genetics and Molecular Biology Genetic diversity and population structure Open access
Laura Méndez, Christopher D. Barratt, Walter Durka, Wilm Daniel Kissling, Wolf L. Eiserhardt, William J. Baker, +2 more
8citations -
Hypomethylation of the MEG8:Int2-DMR in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndrome2025 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Emilia D’Angelo, Laura Pignata, Francesco Cecere, Alessandro Vimercati, Maria Vittoria Cubellis, Abu Saadat, +9 more
2citations -
The role of DNA hydroxymethylation and TET enzymes in placental development and pregnancy outcome2023 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access
Sara Vasconcelos, Carla Caniçais, Susana M. Chuva de Sousa Lopes, Cristina Joana Marques, Sofia Dória
19citations -
Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes2022 Molecular Cytogenetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Naomi Baba, Anna Lengyel, Éva Pinti, Elzem Yapici, Isolde Schreyer, Thomas Liehr, +2 more
5citations