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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 -
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 -
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 -
Novel mutation points to a hot spot in CDKN1C causing Silver–Russell syndrome2020 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Gerhard Binder, Julian Ziegler, Roland Schweizer, Wisam Habhab, Tobias B. Haack, T. Heinrich, +1 more
21citations -
Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome2020 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Carla Eßinger, Stephanie Karch, Ute Moog, György Fekete, Anna Lengyel, Éva Pinti, +2 more
17citations -
Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach2023 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Larissa Bilo, Eguzkine Ochoa, Sunwoo Liv Lee, Daniela Dey, Ingo Kurth, Florian Kraft, +10 more
15citations -
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 -
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
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