Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains

• Diagnosis and management of Silver–Russell syndrome: second international consensus statement

  2026 Nature Reviews Endocrinology review Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

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  citations
• Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype–Phenotype Correlation

  2026 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

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• Hypomethylation of the MEG8:Int2-DMR in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndrome

  2025 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

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• Maternal uniparental disomy of chromosome 7: how chromosome 7-encoded imprinted genes contribute to the Silver–Russell phenotype

  2025 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

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• First‐time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions

  2023 Molecular Genetics & Genomic Medicine article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

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• First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

  2022 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

  36

  citations
• Imprinting Disorders in Humans

  2022 Elsevier eBooks book-chapter Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting

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• Growth Restriction and Genomic Imprinting-Overlapping Phenotypes Support the Concept of an Imprinting Network

  2021 Genes article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

  38

  citations
• Molecular testing for imprinting disorders

  2020 Medizinische Genetik article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

  6

  citations
• Molecular characterization of temple syndrome families with 14q32 epimutations

  2020 European Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting

  6

  citations
• Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences

  2020 Human Reproduction Update article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

  105

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11 results