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Genetic Syndromes and Imprinting Sign in to save
Papers per year
Papers 54
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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 -
Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients2020 Hormone Research in Paediatrics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Giovanna Mantovani, Murat Bastepe, David Monk, Luisa DE SANCTIS, Susanne Thiele, S. Faisal Ahmed, +36 more
79citations -
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
61citations -
Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study2020 British Journal of Cancer article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Sümeyye Cöktü, Claudia Spix, Melanie Kaiser, Jasmin Beygo, Stephanie Kleinle, Nadine Bachmann, +15 more
52citations -
Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family2020 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Thomas Eggermann, Gundula Kadgien, Matthias Begemann, Miriam Elbracht
51citations -
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 -
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 -
HMGA2 Variants in Silver-Russell Syndrome: Homozygous and Heterozygous Occurrence2020 The Journal of Clinical Endocrinology & Metabolism article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Christian Thomas Hübner, Robert Meyer, Asmaa Kenawy, Laima Ambrozaitytė, Aušra Matulevičienė, Florian Kraft, +3 more
27citations -
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome2021 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Robert Meyer, Matthias Begemann, Christian Thomas Hübner, Daniela Dey, Alma Kuechler, Magdeldin Elgizouli, +10 more
25citations -
Molecular Basis of Beckwith–Wiedemann Syndrome Spectrum with Associated Tumors and Consequences for Clinical Practice2022 Cancers article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Thomas Eggermann, Eamonn Richard Maher, Christian Peter Kratz, Dirk Prawitt
25citations -
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
24citations -
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 -
Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important2020 Journal of Molecular Medicine article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Thomas Eggermann, Johanna Brück, Cordula Knopp, György Fekete, Christian Peter Kratz, Velibor B. Tasic, +4 more
20citations -
Patient with an autosomal‐recessive MBTPS1 ‐linked phenotype and clinical features of Silver–Russell syndrome2020 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Robert Meyer, Miriam Elbracht, Thomas Opladen, Thomas Eggermann
17citations -
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 -
Paternal 132 bp deletion affecting KCNQ1OT1 in 11p15.5 is associated with growth retardation but does not affect imprinting2020 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting
Thomas Eggermann, Florian Kraft, Eva Lausberg, Katrin Ergezinger, Erdmute Kunstmann
14citations -
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
Most active Aachen authors
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Thomas Eggermann 17,116 citations overall51 papers
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Matthias Begemann 4,069 citations overall18 papers
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Miriam Elbracht 3,584 citations overall14 papers
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Florian Kraft 1,331 citations overall6 papers
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Daniela Dey 299 citations overall4 papers
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Ingo Kurth 13,878 citations overall3 papers
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Katja Eggermann 2,387 citations overall3 papers
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Robert Meyer 1,775 citations overall3 papers
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Elzem Yapici 66 citations overall3 papers
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Elia Schlaich 15 citations overall3 papers
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Jeremias Krause 2,868 citations overall2 papers
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Cordula Knopp 872 citations overall2 papers
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Christian Thomas Hübner 55 citations overall2 papers
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Johanna Brück 26 citations overall2 papers
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Larissa Bilo 15 citations overall2 papers