Concepedia

Recessive Mutation Screening

Recessive Mutation Screening is a genetic analysis method designed to identify homozygous or compound heterozygous pathogenic variants in genes associated with recessive disorders by systematically examining individuals or populations for loss-of-function mutations that manifest phenotypically only in the absence of a functional allele.

54

Publications

7.7K

Citations

408

Authors

168

Institutions

Publications per year

2017–2026

5

Parents

Publications

54

Isogenic strain construction and gene mapping in Candida albicans.

William A. Fonzi, M Y Irwin · Genetics · 1993 · 1.7K citations · Full text

, , +17

Genome-wide recessive genetic screening in mammalian cells with a lentiviral CRISPR-guide RNA library

Hiroko Koike-Yusa, Yilong Li, E‐Pien Tan et al. · Nature Biotechnology · 2013 · 1.1K citations

, , +15

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

Callum J. Bell, Darrell L. Dinwiddie, Neil Miller et al. · Science Translational Medicine · 2011 · 712 citations

, , +16

Alterations in Growth, Photosynthesis, and Respiration in a Starchless Mutant of <i>Arabidopsis thaliana</i> (L.) Deficient in Chloroplast Phosphoglucomutase Activity

Timothy Caspar, Steven C. Huber, Chris Somerville · PLANT PHYSIOLOGY · 1985 · 530 citations · Full text

, , +16

A behavioral screen for isolating zebrafish mutants with visual system defects.

Susan E. Brockerhoff, James B. Hurley, Ulrike Janssen‐Bienhold et al. · Proceedings of the National Academy of Sciences · 1995 · 499 citations

, , +12

1–5 of 54

Authors

408

  1. CS
    Chris Somerville

    Michigan State University, United States

    4 publications · 1.5K citations

    4

    h-index

  2. HU
    Hiroshi Uemura

    National Institute of Advanced Industrial Science and Technology, Japan

    3 publications · 133 citations

    3

    h-index

  3. TC
    Timothy Caspar

    Michigan State University, United States

    3 publications · 1.1K citations

    3

    h-index

  4. TL
    Tsan‐Piao Lin

    National Taiwan University, Taiwan

    2 publications · 559 citations

    2

    h-index

  5. MF
    Mathias Friedrich

    Wellcome Sanger Institute, United Kingdom

    2 publications · 244 citations

    2

    h-index

1–5 of 408

Institutions

168

  1. Michigan State University

    East Lansing, United States

    5 h-index

    14 publications

    3.6K citations

  2. Wellcome Sanger Institute

    Cambridge, United Kingdom

    4 h-index

    25 publications

    7.8K citations

  3. Harvard University

    Cambridge, United States

    3 h-index

    10 publications

    3.2K citations

  4. Helmholtz Zentrum München

    Munich, Germany

    2 h-index

    6 publications

    732 citations

  5. German Cancer Research Center

    Heidelberg, Germany

    2 h-index

    12 publications

    1.9K citations

  6. Technical University of Munich

    Munich, Germany

    2 h-index

    35 publications

    4.5K citations

  7. Yokohama City University

    Yokohama, Japan

    2 h-index

    7 publications

    332 citations

  8. Instituto de Medicina Genómica

    Paterna, Spain

    2 h-index

    2 publications

    244 citations

1–8 of 168

Venues

  1. PLANT PHYSIOLOGY

    4 publications · 1.5K citations

    4

    h-index

  2. Genetics

    3 publications · 1.9K citations

    3

    h-index

  3. Journal of Bacteriology

    JB · 2 publications · 100 citations

    2

    h-index

  4. Proceedings of the National Academy of Sciences

    PNAS · 2 publications · 693 citations

    2

    h-index

  5. Molecular and Cellular Biology

    MCB · 2 publications · 97 citations

    2

    h-index

1–5