Concepedia

Mutant Detection

Mutant Detection is a methodological framework within mutation screening that specifically enables the identification and characterization of genetic variants by distinguishing altered nucleotide sequences from wild-type alleles through targeted molecular or computational analysis.

1.5K

Publications

92K

Citations

8.2K

Authors

2.1K

Institutions

Publications per year

2017–2026

216

Variants

Mutation Detection

Parents

Publications

1.5K

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

Mutation detection and single-molecule counting using isothermal rolling-circle amplification

Paul M. Lizardi, Xiaohua Huang, Zhengrong Zhu et al. · Nature Genetics · 1998 · 1.4K citations

, , +14

Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes.

Val C. Sheffield, David R. Cox, Leonard S. Lerman et al. · Proceedings of the National Academy of Sciences · 1989 · 1.3K citations · Full text

, , +14

Identification of p53 Gene Mutations in Bladder Cancers and Urine Samples

David Sidransky, Andrew von Eschenbach, Yvonne Tsai et al. · Science · 1991 · 894 citations

, , +13

A new Salmonella tester strain (TA102) with A X T base pairs at the site of mutation detects oxidative mutagens.

David E. Levin, Monica Hollstein, M F Christman et al. · Proceedings of the National Academy of Sciences · 1982 · 752 citations · Full text

, , +15

1–5 of 1.5K

Authors

8.2K

  1. SS
    Steve S. Sommer

    Mayo Clinic, United States

    12 publications · 885 citations

    12

    h-index

  2. MP
    Mike Papadakis

    University of Luxembourg, Luxembourg

    11 publications · 887 citations

    11

    h-index

  3. WG
    William G. Thilly

    Massachusetts Institute of Technology, United States

    10 publications · 705 citations

    10

    h-index

  4. YL
    Yves Le Traon

    University of Luxembourg, Luxembourg

    9 publications · 551 citations

    9

    h-index

  5. RJ
    René Just

    University of Washington, United States

    8 publications · 1K citations

    8

    h-index

1–5 of 8.2K

Institutions

2.1K

  1. Harvard University

    Cambridge, United States

    23 h-index

    131 publications

    21.7K citations

  2. Inserm

    Paris, France

    22 h-index

    130 publications

    6.9K citations

  3. University of Washington

    Seattle, United States

    19 h-index

    61 publications

    5.5K citations

  4. Howard Hughes Medical Institute

    Chevy Chase, United States

    18 h-index

    66 publications

    11.1K citations

  5. Johns Hopkins University

    Baltimore, United States

    16 h-index

    94 publications

    17.8K citations

  6. Baylor College of Medicine

    Houston, United States

    16 h-index

    47 publications

    2.9K citations

  7. University of California, Los Angeles

    Los Angeles, United States

    15 h-index

    51 publications

    3.8K citations

  8. Stanford University

    Stanford, United States

    14 h-index

    52 publications

    5.3K citations

1–8 of 2.1K

Venues

  1. Nucleic Acids Research

    53 publications · 4K citations

    33

    h-index

  2. Human Mutation

    58 publications · 2.9K citations

    30

    h-index

  3. Proceedings of the National Academy of Sciences

    PNAS · 33 publications · 6.3K citations

    29

    h-index

  4. PubMed

    Repository · 66 publications · 3.7K citations

    28

    h-index

  5. Journal of Molecular Diagnostics

    JMD · 30 publications · 2.3K citations

    24

    h-index

1–5