Concepedia

Loss-of-function Effects

Loss-Of-Function Effects is a genetic phenomenon characterized by the reduction or complete absence of protein function due to mutations that impair gene expression or protein activity, thereby distinguishing it from gain-of-function or neutral variants within the spectrum of allelic effects.

768

Publications

59.8K

Citations

7.5K

Authors

1.8K

Institutions

Publications per year

2017–2026

386

Parents

Publications

768

A System for Stable Expression of Short Interfering RNAs in Mammalian Cells

Thijn R. Brummelkamp, René Bernards, Reuven Agami · Science · 2002 · 4.3K citations · Full text

, , +16

Infectious Diseases of the Fetus and Newborn Infant

Jack S. Remington, J. O. Klein · The Pediatric Infectious Disease Journal · 1984 · 2.5K citations

, , +17

KCNQ1 Gain-of-Function Mutation in Familial Atrial Fibrillation

Yi-Han Chen, Shi-Jie Xu, Saı̈d Bendahhou et al. · Science · 2003 · 1K citations

, , +17

Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease

Frederick E. Dewey, Viktoria Gusarova, Richard L. Dunbar et al. · New England Journal of Medicine · 2017 · 875 citations · Full text

, , +15

Genome-Wide RNAi of C. elegans Using the Hypersensitive rrf-3 Strain Reveals Novel Gene Functions

Femke Simmer, Celine Moorman, Alexander M. van der Linden et al. · PLoS Biology · 2003 · 650 citations · Full text

, , +10

1–5 of 768

Authors

7.5K

  1. SK
    Sekar Kathiresan

    Massachusetts General Hospital, United States

    8 publications · 994 citations

    8

    h-index

  2. MB
    Michael Boehnke

    University of Michigan, United States

    6 publications · 697 citations

    6

    h-index

  3. HW
    Hugh Watkins

    University of Oxford, United Kingdom

    5 publications · 557 citations

    5

    h-index

  4. KJ
    Konrad J. Karczewski

    Massachusetts General Hospital, United States

    6 publications · 513 citations

    5

    h-index

  5. MI
    Mark I. McCarthy

    Oxford Centre for Diabetes, Endocrinology and Metabolism, United Kingdom

    5 publications · 606 citations

    5

    h-index

1–5 of 7.5K

Institutions

1.8K

  1. Harvard University

    Cambridge, United States

    32 h-index

    194 publications

    26.1K citations

  2. Inserm

    Paris, France

    24 h-index

    154 publications

    7.9K citations

  3. Centre National de la Recherche Scientifique

    Paris, France

    22 h-index

    141 publications

    8.5K citations

  4. Howard Hughes Medical Institute

    Chevy Chase, United States

    22 h-index

    75 publications

    15.1K citations

  5. University of Pennsylvania

    Philadelphia, United States

    20 h-index

    71 publications

    10.8K citations

  6. University of California San Diego

    San Diego, United States

    19 h-index

    76 publications

    8.4K citations

  7. National Institutes of Health

    Bethesda, United States

    19 h-index

    89 publications

    8.1K citations

  8. Baylor College of Medicine

    Houston, United States

    18 h-index

    113 publications

    7.7K citations

1–8 of 1.8K

Venues

  1. Development

    43 publications · 4.6K citations

    34

    h-index

  2. Nature Communications

    25 publications · 2.1K citations

    22

    h-index

  3. Journal of Biological Chemistry

    JBC · 22 publications · 1.5K citations

    21

    h-index

  4. Proceedings of the National Academy of Sciences

    PNAS · 18 publications · 2.7K citations

    17

    h-index

  5. Scientific Reports

    19 publications · 788 citations

    16

    h-index

1–5