Concepedia

Haploinsufficiency

Haploinsufficiency is a genetic condition in which a single functional copy of a gene is insufficient to maintain normal cellular function, leading to an abnormal phenotype due to reduced gene dosage.

308

Publications

21.6K

Citations

2.7K

Authors

910

Institutions

Publications per year

2017–2026

94

Parents

Publications

308

Cumulative Haploinsufficiency and Triplosensitivity Drive Aneuploidy Patterns and Shape the Cancer Genome

Teresa Davoli, Andrew Wei Xu, Kristen E. Mengwasser et al. · Cell · 2013 · 892 citations · Full text

, , +16

Characterising and Predicting Haploinsufficiency in the Human Genome

Ni Huang, Insuk Lee, Edward M. Marcotte et al. · PLoS Genetics · 2010 · 686 citations · Full text

, , +16

Dosage requirement of <i>Pitx2</i> for development of multiple organs

Philip J. Gage, Hoonkyo Suh, Sally A. Camper · Development · 1999 · 597 citations

, , +17

Genomic profiling of drug sensitivities via induced haploinsufficiency

Guri Giaever, Daniel Shoemaker, Ted Jones et al. · Nature Genetics · 1999 · 585 citations

, , +11

Mechanisms of Haploinsufficiency Revealed by Genome-Wide Profiling in Yeast

Adam M. Deutschbauer, Daniel F. Jaramillo, Michael Proctor et al. · Genetics · 2005 · 554 citations · Full text

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1–5 of 308

Authors

2.7K

  1. TO
    Tsutomu Ogata

    National Center For Child Health and Development, Japan

    10 publications · 335 citations

    10

    h-index

  2. GR
    Gudrun Rappold

    Heidelberg University, Germany

    6 publications · 208 citations

    6

    h-index

  3. JM
    John M. Graham

    Cedars-Sinai Medical Center, United States

    4 publications · 292 citations

    4

    h-index

  4. KD
    Koenraad Devriendt

    KU Leuven, Belgium

    4 publications · 558 citations

    4

    h-index

  5. MF
    Maki Fukami

    National Center For Child Health and Development, Japan

    4 publications · 109 citations

    4

    h-index

1–5 of 2.7K

Institutions

910

  1. Inserm

    Paris, France

    13 h-index

    69 publications

    4.2K citations

  2. Harvard University

    Cambridge, United States

    13 h-index

    50 publications

    9.4K citations

  3. University of California, San Francisco

    San Francisco, United States

    12 h-index

    45 publications

    6.4K citations

  4. Washington University in St. Louis

    St Louis, United States

    11 h-index

    43 publications

    4.3K citations

  5. Howard Hughes Medical Institute

    Chevy Chase, United States

    11 h-index

    34 publications

    9.8K citations

  6. Baylor College of Medicine

    Houston, United States

    10 h-index

    49 publications

    4.8K citations

  7. Keio University

    Tokyo, Japan

    10 h-index

    21 publications

    701 citations

  8. University College London

    London, United Kingdom

    10 h-index

    22 publications

    1.4K citations

1–8 of 910

Venues

  1. Human Molecular Genetics

    14 publications · 1.3K citations

    14

    h-index

  2. European Journal of Human Genetics

    EJHG · 10 publications · 507 citations

    10

    h-index

  3. American Journal of Medical Genetics Part A

    9 publications · 334 citations

    9

    h-index

  4. The Journal of Clinical Endocrinology & Metabolism

    JCEM · 9 publications · 736 citations

    9

    h-index

  5. Human Mutation

    8 publications · 725 citations

    8

    h-index

1–5