Concepedia

Chromosomal Microdeletions

Chromosomal Microdeletion is a structural genomic aberration characterized by the submicroscopic loss of a segment of DNA, typically ranging from kilobases to a few megabases in size, that may lead to clinically significant genetic disorders when affecting dosage-sensitive genes.

807

Publications

44.9K

Citations

5.4K

Authors

1.6K

Institutions

Publications per year

2017–2026

112

Parents

Publications

807

Activation of proto-oncogenes by disruption of chromosome neighborhoods

Denes Hnisz, Abraham S. Weintraub, Daniel S. Day et al. · Science · 2016 · 1.1K citations

, , +15

Williams–Beuren Syndrome

Barbara R. Pober · New England Journal of Medicine · 2010 · 842 citations

, , +17

Large, rare chromosomal deletions associated with severe early-onset obesity

Elena G. Bochukova, Ni Huang, Julia M. Keogh et al. · Nature · 2009 · 629 citations

, , +14

Microdeletions in the Y Chromosome of Infertile Men

Jon L. Pryor, Marijo Kent‐First, A. Muallem et al. · New England Journal of Medicine · 1997 · 493 citations · Full text

, , +13

EAA/EMQN best practice guidelines for molecular diagnosis of y‐chromosomal microdeletions. State of the art 2004

Manuela Simoni, Egbert Bakker, Csilla Krausz · International Journal of Andrology · 2004 · 487 citations · Full text

, , +14

1–5 of 807

Authors

5.4K

  1. JA
    Jill A. Rosenfeld

    Baylor College of Medicine, United States

    14 publications · 1.4K citations

    14

    h-index

  2. LG
    Lisa G. Shaffer

    Baylor College of Medicine, United States

    12 publications · 1.7K citations

    12

    h-index

  3. BC
    Blake C. Ballif

    Signature Research (United States), United States

    10 publications · 1.4K citations

    10

    h-index

  4. JA
    Joris Andrieux

    Hôpital Jeanne de Flandre, France

    10 publications · 599 citations

    10

    h-index

  5. BB
    Bert B.A. de Vries

    Radboud University Nijmegen, Netherlands

    9 publications · 1.8K citations

    9

    h-index

1–5 of 5.4K

Institutions

1.6K

  1. Inserm

    Paris, France

    23 h-index

    152 publications

    11.3K citations

  2. Baylor College of Medicine

    Houston, United States

    22 h-index

    106 publications

    6.8K citations

  3. Radboud University Nijmegen

    Nijmegen, The Netherlands

    20 h-index

    116 publications

    16.4K citations

  4. Radboud University Medical Center

    Nijmegen, The Netherlands

    20 h-index

    97 publications

    12.2K citations

  5. Harvard University

    Cambridge, United States

    18 h-index

    89 publications

    8.4K citations

  6. KU Leuven

    Leuven, Belgium

    17 h-index

    60 publications

    5.4K citations

  7. Children's Hospital of Philadelphia

    Philadelphia, United States

    17 h-index

    72 publications

    7.4K citations

  8. Centre National de la Recherche Scientifique

    Paris, France

    15 h-index

    39 publications

    3.4K citations

1–8 of 1.6K

Venues

  1. American Journal of Medical Genetics Part A

    74 publications · 2.7K citations

    31

    h-index

  2. PubMed

    Repository · 55 publications · 2.5K citations

    27

    h-index

  3. Journal of Medical Genetics

    JMG · 25 publications · 1.8K citations

    22

    h-index

  4. European Journal of Medical Genetics

    47 publications · 1.7K citations

    22

    h-index

  5. European Journal of Human Genetics

    EJHG · 21 publications · 1.1K citations

    18

    h-index

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