Concepedia

Imprinting Disorders

Imprinting Disorders is a group of congenital genetic and epigenetic diseases characterized by overlapping abnormalities of growth, development, and metabolism that arise specifically from molecular disturbances (such as aberrant methylation, uniparental disomy, chromosomal imbalance, or sequence mutation) affecting genomically imprinted chromosomal regions and genes with parent-of-origin-specific expression.

475

Publications

42.6K

Citations

2.6K

Authors

1K

Institutions

Publications per year

2017–2026

117

Variants

Imprinting Defects

Parents

Children

Publications

475

A genomic sequencing protocol that yields a positive display of 5-methylcytosine residues in individual DNA strands.

Marianne Frommer, Louise E. McDonald, David Millar et al. · Proceedings of the National Academy of Sciences · 1992 · 3.3K citations

, , +14

UBE3A/E6-AP mutations cause Angelman syndrome

Tatsuya Kishino, Marc Lalande, Joseph Wagstaff · Nature Genetics · 1997 · 1.3K citations

, , +15

Disruption of imprinting caused by deletion of the H19 gene region in mice

Philip A. Leighton, Robert S. Ingram, Jonathan Eggenschwiler et al. · Nature · 1995 · 759 citations

, , +9

Intracytoplasmic Sperm Injection May Increase the Risk of Imprinting Defects

Gerald F. Cox, Joachim Bürger, Va Lip et al. · The American Journal of Human Genetics · 2002 · 705 citations · Full text

, , +14

Genomic imprinting: review and relevance to human diseases.

Judith G. Hall · PubMed · 1990 · 629 citations

, , +14

1–5 of 475

Authors

2.6K

  1. KB
    Karin Buiting

    Essen University Hospital, Germany

    32 publications · 3.2K citations

    26

    h-index

  2. TE
    Thomas Eggermann

    RWTH Aachen University, Germany

    32 publications · 1.5K citations

    20

    h-index

  3. BH
    Bernhard Horsthemke

    Essen University Hospital, Germany

    23 publications · 2.9K citations

    19

    h-index

  4. ER
    Eamonn R. Maher

    University of Birmingham, United Kingdom

    20 publications · 3.1K citations

    19

    h-index

  5. AR
    Andrea Riccio

    Institute of Genetics and Biophysics, Italy

    20 publications · 1.5K citations

    18

    h-index

1–5 of 2.6K

Institutions

1K

  1. Inserm

    Paris, France

    24 h-index

    164 publications

    13.4K citations

  2. Essen University Hospital

    Essen, Germany

    22 h-index

    108 publications

    9.8K citations

  3. RWTH Aachen University

    Aachen, Germany

    21 h-index

    110 publications

    5.3K citations

  4. University of Cambridge

    Cambridge, United Kingdom

    20 h-index

    63 publications

    9.2K citations

  5. Sorbonne Université

    Paris, France

    20 h-index

    115 publications

    8.8K citations

  6. National Center For Child Health and Development

    Tokyo, Japan

    19 h-index

    115 publications

    7.3K citations

  7. Assistance Publique – Hôpitaux de Paris

    Paris, France

    18 h-index

    111 publications

    7.4K citations

  8. Hôpital Armand-Trousseau

    Paris, France

    17 h-index

    99 publications

    9.1K citations

1–8 of 1K

Venues

  1. Human Molecular Genetics

    36 publications · 4.4K citations

    30

    h-index

  2. Clinical Epigenetics

    30 publications · 1.2K citations

    21

    h-index

  3. European Journal of Human Genetics

    EJHG · 19 publications · 1.2K citations

    18

    h-index

  4. American Journal of Medical Genetics Part A

    22 publications · 953 citations

    18

    h-index

  5. Journal of Medical Genetics

    JMG · 20 publications · 1.9K citations

    17

    h-index

1–5