Concepedia

Point Mutation Screening

Point Mutation Screening is a systematic molecular analysis method designed to identify single-nucleotide alterations in a DNA sequence, distinguishing it from broader mutation detection techniques by its exclusive focus on point mutations.

868

Publications

50.2K

Citations

5.3K

Authors

1.4K

Institutions

Publications per year

2017–2026

75

Parents

Publications

868

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

Masato Orita, Youichi Suzuki, Takao Sekiya et al. · Genomics · 1989 · 3.5K citations

, , +16

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

Charles R. Newton, Alexander Graham, Lesley Heptinstall et al. · Nucleic Acids Research · 1989 · 2.5K citations · Full text

, , +17

Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder.

H Nagata, A S Worobec, Chang Kyu Oh et al. · Proceedings of the National Academy of Sciences · 1995 · 880 citations

, , +16

High-Throughput Screening for Induced Point Mutations

Trenton Colbert, Bradley J. Till, Rachel Tompa et al. · PLANT PHYSIOLOGY · 2001 · 509 citations · Full text

, , +15

The Booroola (FecB) phenotype is associated with a mutation in the bone morphogenetic receptor type 1 B (BMPR1B) gene

CJ Souza, Colin N. MacDougall, Colin N. MacDougall et al. · Journal of Endocrinology · 2001 · 433 citations · Full text

, , +14

1–5 of 868

Authors

5.3K

  1. WG
    William G. Thilly

    Massachusetts Institute of Technology, United States

    7 publications · 171 citations

    7

    h-index

  2. JJ
    Jian‐Hui Jiang

    Hunan University, China

    5 publications · 213 citations

    5

    h-index

  3. SA
    Steven A. Soper

    Louisiana State University, United States

    5 publications · 489 citations

    5

    h-index

  4. JT
    Johan T. den Dunnen

    Leiden University Medical Center, Netherlands

    5 publications · 355 citations

    5

    h-index

  5. GS
    Guo‐Li Shen

    Hunan University, China

    5 publications · 142 citations

    5

    h-index

1–5 of 5.3K

Institutions

1.4K

  1. Inserm

    Paris, France

    18 h-index

    105 publications

    7.2K citations

  2. Howard Hughes Medical Institute

    Chevy Chase, United States

    17 h-index

    51 publications

    6.3K citations

  3. University College London

    London, United Kingdom

    13 h-index

    37 publications

    1.9K citations

  4. Centre National de la Recherche Scientifique

    Paris, France

    13 h-index

    65 publications

    4.2K citations

  5. Harvard University

    Cambridge, United States

    12 h-index

    23 publications

    1.1K citations

  6. Leiden University

    Leiden, The Netherlands

    11 h-index

    33 publications

    2.6K citations

  7. National Institutes of Health

    Bethesda, United States

    11 h-index

    33 publications

    896 citations

  8. Baylor College of Medicine

    Houston, United States

    11 h-index

    37 publications

    2.4K citations

1–8 of 1.4K

Venues

  1. PubMed

    Repository · 55 publications · 2.5K citations

    29

    h-index

  2. Human Mutation

    44 publications · 1.9K citations

    26

    h-index

  3. Nucleic Acids Research

    31 publications · 5K citations

    23

    h-index

  4. Clinical Chemistry

    16 publications · 961 citations

    14

    h-index

  5. Electrophoresis

    18 publications · 481 citations

    13

    h-index

1–5