Recent Advances in Imprinting Disorders

• Imprinting disorders

  2023 Nature Reviews Disease Primers review Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting

  87

  citations
• Prenatal testing for imprinting disorders: A laboratory perspective

  2023 Prenatal Diagnosis article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

  11

  citations
• 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
• Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences

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

  56

  citations
• Maternal Effect Mutations: A Novel Cause for Human Reproductive Failure

  2021 Geburtshilfe und Frauenheilkunde article Medicine Reproductive Biology and Fertility Open access

  10

  citations
• 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
• Epigenetics

  2021 Elsevier eBooks book-chapter Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation

  0

  citations
• Prenatal Detection of Uniparental Disomies (UPD): Intended and Incidental Finding in the Era of Next Generation Genomics

  2020 Genes article Medicine Prenatal Screening and Diagnostics Open access

  42

  citations
• Clinical spectrum and management of imprinting disorders

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

  11

  citations
• Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)

  2020 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  28

  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

  citations

11 results