Concepedia

Microduplication Syndromes

Microduplication Syndromes is a chromosomal disorder characterized by the presence of extra copies of small chromosomal segments, typically ranging from kilobases to a few megabases, which leads to dosage-sensitive gene disruptions associated with developmental and phenotypic abnormalities.

270

Publications

13.9K

Citations

2.4K

Authors

794

Institutions

Publications per year

2017–2026

52

Variants

Microduplication Disorders

Parents

Publications

270

Multi-platform discovery of haplotype-resolved structural variation in human genomes

Mark Chaisson, Ashley D. Sanders, Xuefang Zhao et al. · Nature Communications · 2019 · 1K citations · Full text

, , +17

Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

Hilde Van Esch, Marijke Bauters, Jaakko Ignatius et al. · The American Journal of Human Genetics · 2005 · 627 citations · Full text

, , +14

Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients

Regina Ensenauer, Adewale Adeyinka, Heather C. Flynn et al. · The American Journal of Human Genetics · 2003 · 381 citations · Full text

, , +16

Gigantism and Acromegaly Due to Xq26 Microduplications and <i>GPR101</i> Mutation

Giampaolo Trivellin, Adrian Daly, Fábio R. Faucz et al. · New England Journal of Medicine · 2014 · 339 citations · Full text

, , +15

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

Blake C. Ballif, Aaron Theisen, Justine Coppinger et al. · Molecular Cytogenetics · 2008 · 308 citations · Full text

, , +16

1–5 of 270

Authors

2.4K

  1. JA
    Joris Andrieux

    Hôpital Jeanne de Flandre, France

    8 publications · 349 citations

    8

    h-index

  2. JR
    James R. Lupski

    Baylor College of Medicine, United States

    7 publications · 935 citations

    7

    h-index

  3. AN
    Antonio Novelli

    Bambino Gesù Children's Hospital, Italy

    6 publications · 103 citations

    6

    h-index

  4. OZ
    Orsetta Zuffardi

    University of Pavia, Italy

    6 publications · 206 citations

    6

    h-index

  5. JA
    Jill A. Rosenfeld

    Baylor College of Medicine, United States

    6 publications · 360 citations

    6

    h-index

1–5 of 2.4K

Institutions

794

  1. Inserm

    Paris, France

    16 h-index

    74 publications

    4.1K citations

  2. Baylor College of Medicine

    Houston, United States

    15 h-index

    62 publications

    7K citations

  3. Radboud University Nijmegen

    Nijmegen, The Netherlands

    11 h-index

    32 publications

    3.2K citations

  4. KU Leuven

    Leuven, Belgium

    10 h-index

    18 publications

    1.1K citations

  5. Wessex Regional Genetics Laboratory

    Salisbury, United Kingdom

    10 h-index

    24 publications

    1.3K citations

  6. Istituti di Ricovero e Cura a Carattere Scientifico

    Rome, Italy

    10 h-index

    44 publications

    1.2K citations

  7. Children's Hospital of Philadelphia

    Philadelphia, United States

    9 h-index

    35 publications

    3.1K citations

  8. Centre National de la Recherche Scientifique

    Paris, France

    9 h-index

    31 publications

    1K citations

1–8 of 794

Venues

  1. American Journal of Medical Genetics Part A

    42 publications · 1.7K citations

    24

    h-index

  2. European Journal of Medical Genetics

    37 publications · 1.8K citations

    24

    h-index

  3. European Journal of Human Genetics

    EJHG · 15 publications · 876 citations

    15

    h-index

  4. Clinical Genetics

    9 publications · 310 citations

    9

    h-index

  5. Journal of Medical Genetics

    JMG · 9 publications · 794 citations

    9

    h-index

1–5