Concepedia

Microdeletion Syndromes

Microdeletion Syndromes is a class of chromosomal disorders characterized by the deletion of a small chromosomal segment, typically undetectable by conventional cytogenetics but identifiable through molecular cytogenetic techniques, leading to a constellation of clinically recognizable phenotypic features.

1.5K

Publications

81.4K

Citations

8.7K

Authors

2.1K

Institutions

Publications per year

2017–2026

223

Variants

Microdeletion Disorders

Parents

Publications

1.5K

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

Anthony P. Monaco, Corlee J. Bertelson, Sabina Liechti‐Gallati et al. · Genomics · 1988 · 1.2K citations

, , +11

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

Catechol- <i>O</i> -methyltransferase-deficient mice exhibit sexually dimorphic changes in catecholamine levels and behavior

Joseph A. Gogos, Maria A. Morgan, Victoria N. Luine et al. · Proceedings of the National Academy of Sciences · 1998 · 855 citations · Full text

, , +16

Williams–Beuren Syndrome

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

, , +17

Chromosomal Imbalance in the Aniridia-Wilms' Tumor Association: 11p Interstitial Deletion

Vincent M. Riccardi, Eva Sujansky, Ann C. M. Smith et al. · PEDIATRICS · 1978 · 730 citations

, , +15

1–5 of 1.5K

Authors

8.7K

  1. EH
    Elaine H. Zackai

    Children's Hospital of Philadelphia, United States

    43 publications · 4.5K citations

    32

    h-index

  2. DM
    Donna M. McDonald‐McGinn

    Children's Hospital of Philadelphia, United States

    37 publications · 3.8K citations

    29

    h-index

  3. JA
    Jill A. Rosenfeld

    Baylor College of Medicine, United States

    23 publications · 2.1K citations

    19

    h-index

  4. AS
    Anne S. Bassett

    University of Toronto, Canada

    22 publications · 2.3K citations

    19

    h-index

  5. BS
    Beverly S. Emanuel

    Children's Hospital of Philadelphia, United States

    21 publications · 1.8K citations

    19

    h-index

1–5 of 8.7K

Institutions

2.1K

  1. Children's Hospital of Philadelphia

    Philadelphia, United States

    43 h-index

    263 publications

    25K citations

  2. Baylor College of Medicine

    Houston, United States

    40 h-index

    270 publications

    25K citations

  3. Inserm

    Paris, France

    34 h-index

    158 publications

    9.7K citations

  4. Radboud University Nijmegen

    Nijmegen, The Netherlands

    32 h-index

    202 publications

    31.2K citations

  5. University of Pennsylvania

    Philadelphia, United States

    30 h-index

    156 publications

    14K citations

  6. University of Toronto

    Toronto, Canada

    29 h-index

    145 publications

    10.4K citations

  7. Harvard University

    Cambridge, United States

    27 h-index

    120 publications

    18.1K citations

  8. KU Leuven

    Leuven, Belgium

    27 h-index

    133 publications

    8.2K citations

1–8 of 2.1K

Venues

  1. American Journal of Medical Genetics Part A

    228 publications · 9.6K citations

    54

    h-index

  2. American Journal of Medical Genetics

    121 publications · 6.8K citations

    40

    h-index

  3. Journal of Medical Genetics

    JMG · 83 publications · 5.5K citations

    40

    h-index

  4. European Journal of Human Genetics

    EJHG · 49 publications · 3.5K citations

    35

    h-index

  5. European Journal of Medical Genetics

    87 publications · 3.2K citations

    34

    h-index

1–5